Table 3 ExAC allele frequencies of the 74 hypertrophic cardiomyopathy “gold standard” missense variants
Gene | Variant | Effect | Classification | MAF |
|---|---|---|---|---|
MYBPC3 | NM_000256.3:c.772G > A | p.Glu258Lys | Pathogenic | 0.0039%a |
MYH7 | NM_000257.2:c.2389G > A | p.Ala797Thr | Pathogenic | 0.0033% |
MYBPC3 | NM_000256.3:c.1504C > T | p.Arg502Trp | Pathogenic | 0.0025% |
MYH7 | NM_000257.2:c.2167C > T | p.Arg723Cys | Pathogenic | 0.0025% |
TNNI3 | NM_000363.4:c.485G > A | p.Arg162Gln | Pathogenic | 0.0025% |
MYH7 | NM_000257.2:c.1988G > A | p.Arg663His | Pathogenic | 0.0016% |
MYBPC3 | NM_000256.3:c.1484G > A | p.Arg495Gln | Pathogenic | 0.00083% |
MYL2 | NM_000432.3:c.173G > A | p.Arg58Gln | Pathogenic | 0.00083% |
MYL2 | NM_000432.3:c.64G > A | p.Glu22Lys | Pathogenic | 0.00083% |
TNNI3 | NM_000363.4:c.433C > T | p.Arg145Trp | Pathogenic | 0.00083% |
MYH7 | NM_000257.2:c.2609G > A | p.Arg870His | Pathogenic | 0.00082%b |
TNNT2 | NM_001001430.1:c.274C > T | p.Arg92Trp | Pathogenic | 0.00082% |
TNNI3 | NM_000363.4:c.433C > G | p.Arg145Gly | Pathogenic | 0.00080% |
MYBPC3 | NM_000256.3:c.1351G > C | p.Glu451Gln | Pathogenic | 0 |
MYBPC3 | NM_000256.3:c.1505G > A | p.Arg502Gln | Pathogenic | 0 |
MYBPC3 | NM_000256.3:c.2265C > A | p.Asn755Lys | Pathogenic | 0 |
MYH7 | NM_000257.2:c.1207C > T | p.Arg403Trp | Pathogenic | 0 |
MYH7 | NM_000257.2:c.1208G > A | p.Arg403Gln | Pathogenic | 0 |
MYH7 | NM_000257.2:c.1357C > T | p.Arg453Cys | Pathogenic | 0 |
MYH7 | NM_000257.2:c.1750G > C | p.Gly584Arg | Pathogenic | 0 |
MYH7 | NM_000257.2:c.1816G > A | p.Val606Met | Pathogenic | 0 |
MYH7 | NM_000257.2:c.2146G > A | p.Gly716Arg | Pathogenic | 0 |
MYH7 | NM_000257.2:c.2155C > T | p.Arg719Trp | Pathogenic | 0 |
MYH7 | NM_000257.2:c.2156G > A | p.Arg719Gln | Pathogenic | 0 |
MYH7 | NM_000257.2:c.2167C > G | p.Arg723Gly | Pathogenic | 0 |
MYH7 | NM_000257.2:c.2221G > T | p.Gly741Trp | Pathogenic | 0 |
MYH7 | NM_000257.2:c.2717A > G | p.Asp906Gly | Pathogenic | 0 |
MYH7 | NM_000257.2:c.2722C > G | p.Leu908Val | Pathogenic | 0 |
MYH7 | NM_000257.2:c.2770G > A | p.Glu924Lys | Pathogenic | 0 |
MYH7 | NM_000257.2:c.2788G > A | p.Glu930Lys | Pathogenic | 0 |
MYH7 | NM_000257.2:c.4135G > A | p.Ala1379Thr | Pathogenic | 0 |
MYH7 | NM_000257.2:c.438G > T | p.Lys146Asn | Pathogenic | 0 |
MYH7 | NM_000257.2:c.767G > A | p.Gly256Glu | Pathogenic | 0 |
TNNI3 | NM_000363.4:c.470C > T | p.Ala157Val | Pathogenic | 0 |
TNNI3 | NM_000363.4:c.557G > A | p.Arg186Gln | Pathogenic | 0 |
TNNI3 | NM_000363.4:c.575G > A | p.Arg192His | Pathogenic | 0 |
TNNT2 | NM_001001430.1:c.236 T > A | p.Ile79Asn | Pathogenic | 0 |
TNNT2 | NM_001001430.1:c.275G > A | p.Arg92Gln | Pathogenic | 0 |
TNNT2 | NM_001001430.1:c.421C > T | p.Arg141Trp | Pathogenic | 0 |
TPM1 | NM_000366.5:c.523G > A | p.Asp175Asn | Pathogenic | 0 |
TPM1 | NM_000366.5:c.688G > A | p.Asp230Asn | Pathogenic | 0 |
MYBPC3 | NM_000256.3:c.2686G > A | p.Val896Met | Likely benign | 1.28%a |
MYBPC3 | NM_000256.3:c.833G > A | p.Gly278Glu | Likely benign | 0.29%a |
TNNI3 | NM_000363.4:c.244C > T | p.Pro82Ser | Likely benign | 0.28% |
MYBPC3 | NM_000256.3:c.565G > A | p.Val189Ile | Likely benign | 0.27% |
MYBPC3 | NM_000256.3:c.3413G > A | p.Arg1138His | Likely benign | 0.13% |
MYBPC3 | NM_000256.3:c.1519G > A | p.Gly507Arg | Likely benign | 0.068% |
MYBPC3 | NM_000256.3:c.3004C > T | p.Arg1002Trp | Likely benign | 0.067% |
TNNI3 | NM_000363.4:c.235C > T | p.Arg79Cys | Likely benign | 0.043% |
MYBPC3 | NM_000256.3:c.1564G > A | p.Ala522Thr | Likely benign | 0.039% |
MYBPC3 | NM_000256.3:c.440C > T | p.Pro147Leu | Likely benign | 0.038%a |
MYH7 | NM_000257.2:c.3981C > A | p.Asn1327Lys | Likely benign | 0.010% |
MYBPC3 | NM_000256.3:c.1147C > G | p.Leu383Val | Likely benign | 0.0089% |
MYBPC3 | NM_000256.3:c.842G > A | p.Arg281Gln | Likely benign | 0.0070%a |
MYBPC3 | NM_000256.3:c.1633C > A | p.Leu545Met | Likely benign | 0.0034% |
MYBPC3 | NM_000256.3:c.1246G > A | p.Gly416Ser | Likely benign | 0.0029% |
MYBPC3 | NM_000256.3:c.2063C > A | p.Thr688Lys | Likely benign | 0.0019%a |
MYBPC3 | NM_000256.3:c.3142C > T | p.Arg1048Cys | Likely benign | 0.0017% |
TNNT2 | NM_001001430.1:c.805A > T | p.Asn269Tyr | Likely benign | 0.0017%a |
MYBPC3 | NM_000256.3:c.2410C > A | p.Leu804Met | Likely benign | 0 |
MYH7 | NM_000257.2:c.321 T > G | p.Asp107Glu | Likely benign | 0 |
MYH7 | NM_000257.2:c.4555A > T | p.Ser1519Cys | Likely benign | 0 |
MYH7 | NM_000257.2:c.8A > C | p.Asp3Ala | Likely benign | 0 |
TNNI3 | NM_000363.4:c.244C > A | p.Pro82Thr | Likely benign | 0 |
TNNI3 | NM_000363.4:c.253 T > A | p.Leu85Met | Likely benign | 0 |
TNNI3 | NM_000363.4:c.257C > A | p.Ala86Asp | Likely benign | 0 |
TNNT2 | NM_001001430.1:c.682C > G | p.Gln228Glu | Likely benign | 0 |
MYBPC3 | NM_000256.3:c.706A > G | p.Ser236Gly | Benign | 10.79% |
MYBPC3 | NM_000256.3:c.472G > A | p.Val158Met | Benign | 9.04%a |
TNNT2 | NM_001001430.1:c.758A > G | p.Lys253Arg | Benign | 5.07% |
MYH7 | NM_000257.2:c.4472C > G | p.Ser1491Cys | Benign | 0.75% |
MYBPC3 | NM_000256.3:c.977G > A | p.Arg326Gln | Benign | 0.55% |
MYBPC3 | NM_000256.3:c.1144C > T | p.Arg382Trp | Benign | 0.42% |
MYBPC3 | NM_000256.3:c.2498C > T | p.Ala833Val | Benign | 0.22% |