ClinVar Miner

List of variants reported as likely pathogenic for Cardiomyopathy by Institute of Human Genetics, University of Wuerzburg

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln) rs397516347 0.00004
NM_000256.3(MYBPC3):c.1574_1580del (p.Tyr525fs) rs2142860924
NM_000256.3(MYBPC3):c.2068-1G>A rs2142857371
NM_000256.3(MYBPC3):c.2905+1G>T
NM_000257.4(MYH7):c.578A>G (p.Gln193Arg)
NM_001267550.2(TTN):c.74080G>T (p.Glu24694Ter)
NM_001267550.2(TTN):c.79809dup (p.Val26604fs)
NM_001267550.2(TTN):c.87877del (p.Arg29293fs) rs2154155591
NM_001458.5(FLNC):c.2504dup (p.Pro836fs) rs1554398705
NM_001458.5(FLNC):c.3307_3313del (p.Cys1103fs) rs2128936386
NM_001458.5(FLNC):c.4702del (p.Asp1568fs)
NM_003476.5(CSRP3):c.282-1G>A

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