ClinVar Miner

List of variants reported as likely benign by Agnes Ginges Centre for Molecular Cardiology, Centenary Institute

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg) rs45550635 0.00271
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120 0.00106
NM_001037.5(SCN1B):c.412G>A (p.Val138Ile) rs72558029 0.00058
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu) rs146664754 0.00055
NM_001267550.2(TTN):c.25619C>T (p.Ser8540Phe) rs201523784 0.00045
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser) rs138991195 0.00039
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr) rs141122361 0.00034
NM_002471.4(MYH6):c.831G>T (p.Gln277His) rs140660481 0.00029
NM_007078.3(LDB3):c.1051A>G (p.Thr351Ala) rs138251566 0.00026
NM_007078.3(LDB3):c.1049C>T (p.Thr350Ile) rs200796750 0.00022
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_000337.6(SGCD):c.848A>G (p.Gln283Arg) rs397516338 0.00019
NM_002471.4(MYH6):c.3867G>T (p.Leu1289Phe) rs138127105 0.00008
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645 0.00006
NM_001018005.2(TPM1):c.240+4430G>A rs397516490 0.00003
NM_000257.4(MYH7):c.5704G>C (p.Glu1902Gln) rs187073962 0.00002
NM_000238.4(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1]) rs551056698
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000335.5(SCN5A):c.1756_1761del (p.Ala586_Leu587del) rs397517953
NM_001148.6(ANK2):c.11198_11200del (p.Gly3733del) rs730880049
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del) rs573843615

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