ClinVar Miner

List of variants studied for Hypertrophic cardiomyopathy 1 by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_003673.4(TCAP):c.353C>T (p.Ala118Val) rs143233087 0.00092
NM_002471.4(MYH6):c.292G>A (p.Glu98Lys) rs140596256 0.00030
NM_002471.4(MYH6):c.831G>T (p.Gln277His) rs140660481 0.00026
NM_001103.4(ACTN2):c.2161C>A (p.Arg721Ser) rs149433837 0.00025
NM_002471.4(MYH6):c.1753G>A (p.Gly585Ser) rs150415679 0.00013
NM_002471.4(MYH6):c.4264C>T (p.Arg1422Trp) rs200465713 0.00010
NM_002880.4(RAF1):c.935T>C (p.Val312Ala) rs370243307 0.00010
NM_000256.3(MYBPC3):c.2882C>T (p.Pro961Leu) rs373056282 0.00009
NM_003476.5(CSRP3):c.272A>T (p.Gln91Leu) rs727504436 0.00009
NM_003673.4(TCAP):c.97C>T (p.Arg33Trp) rs145524909 0.00009
NM_000363.5(TNNI3):c.356C>A (p.Thr119Asn) rs184709702 0.00006
NM_000257.4(MYH7):c.611G>A (p.Arg204His) rs397516260 0.00003
NM_000258.3(MYL3):c.91C>T (p.Arg31Cys) rs377026344 0.00003
NM_014391.3(ANKRD1):c.27+1G>T rs779910001 0.00003
NM_144573.4(NEXN):c.1595T>C (p.Ile532Thr) rs754656961 0.00003
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser) rs782449839 0.00001
NM_000169.3(GLA):c.73G>A (p.Asp25Asn) rs781788693 0.00001
NM_000256.3(MYBPC3):c.1397T>A (p.Met466Lys) rs397515899 0.00001
NM_000256.3(MYBPC3):c.3284C>T (p.Thr1095Met) rs755653624 0.00001
NM_000256.3(MYBPC3):c.916C>T (p.Arg306Trp) rs753884765 0.00001
NM_002471.4(MYH6):c.2589G>C (p.Glu863Asp) rs763692915 0.00001
NM_002471.4(MYH6):c.4700T>G (p.Phe1567Cys) rs750138024 0.00001
NM_014391.3(ANKRD1):c.109G>A (p.Val37Ile) rs1401851050 0.00001
NM_020433.5(JPH2):c.421T>C (p.Tyr141His) rs387906897 0.00001
NM_144573.4(NEXN):c.917G>A (p.Arg306His) rs758055856 0.00001
NM_000256.3(MYBPC3):c.1383_1384dup (p.Asp462fs) rs2095890455
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del) rs727504287
NM_000256.3(MYBPC3):c.2308+1G>A rs112738974
NM_000256.3(MYBPC3):c.3166G>C (p.Ala1056Pro) rs2095879417
NM_000256.3(MYBPC3):c.3788G>C (p.Arg1263Pro) rs781180230
NM_000257.4(MYH7):c.4159G>A (p.Glu1387Lys) rs730880792
NM_000363.5(TNNI3):c.366C>G (p.Ile122Met) rs2085716232
NM_000363.5(TNNI3):c.438A>T (p.Arg146Ser) rs2085712265
NM_001018005.2(TPM1):c.114G>A (p.Gln38=) rs2031445986
NM_001018005.2(TPM1):c.835A>C (p.Asn279His) rs397516392
NM_002471.4(MYH6):c.2091C>A (p.Cys697Ter) rs1891418103
NM_002471.4(MYH6):c.4645G>A (p.Ala1549Thr) rs1342437470
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val) rs80338797
NM_003476.5(CSRP3):c.319C>A (p.Pro107Thr) rs1318623802
NM_003476.5(CSRP3):c.483dup (p.Lys162fs) rs1436046253
NM_016203.4(PRKAG2):c.1038T>G (p.Ile346Met) rs755029209
NM_020433.5(JPH2):c.438C>A (p.Ser146Arg) rs762464432
NM_170707.4(LMNA):c.1228C>T (p.Gln410Ter) rs1057515421

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