ClinVar Miner

List of variants in gene MYBPC3 reported as uncertain significance for Familial hypertrophic cardiomyopathy 4

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Total variants: 26
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HGVS dbSNP
NM_000256.3(MYBPC3):c.1246G>A (p.Gly416Ser) rs371513491
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) rs193922377
NM_000256.3(MYBPC3):c.1445C>T (p.Ala482Val) rs370285346
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435
NM_000256.3(MYBPC3):c.1766G>A (p.Arg589His) rs397515923
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299
NM_000256.3(MYBPC3):c.194C>T (p.Thr65Met) rs753300898
NM_000256.3(MYBPC3):c.2077G>T (p.Ala693Ser) rs771753579
NM_000256.3(MYBPC3):c.2197C>T (p.Arg733Cys) rs397515956
NM_000256.3(MYBPC3):c.2198G>A (p.Arg733His) rs534345197
NM_000256.3(MYBPC3):c.2320G>A (p.Ala774Thr) rs368104687
NM_000256.3(MYBPC3):c.2500C>T (p.Arg834Trp) rs752007810
NM_000256.3(MYBPC3):c.2815C>T (p.Arg939Trp) rs534366414
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380
NM_000256.3(MYBPC3):c.2873C>T (p.Thr958Ile) rs376504548
NM_000256.3(MYBPC3):c.2905+1G>A rs397515991
NM_000256.3(MYBPC3):c.2927C>G (p.Pro976Arg) rs954096716
NM_000256.3(MYBPC3):c.3358C>T (p.Arg1120Cys) rs368721523
NM_000256.3(MYBPC3):c.3613C>T (p.Arg1205Trp) rs727503171
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) rs201312636
NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys) rs193922385
NM_000256.3(MYBPC3):c.626T>C (p.Leu209Pro)
NM_000256.3(MYBPC3):c.713G>A (p.Arg238His) rs727504396
NM_000256.3(MYBPC3):c.808G>A (p.Ala270Thr) rs775337081
NM_000256.3(MYBPC3):c.818G>A (p.Arg273His) rs376461745
NM_000256.3(MYBPC3):c.821+5G>A rs397516077

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