ClinVar Miner

List of variants reported as uncertain significance for Cardiomyopathy by GeneDx

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.3335_3337dup (p.Trp1112dup) rs730880673
NM_000256.3(MYBPC3):c.3744_3758del (p.Gly1249_Cys1253del) rs730880676
NM_000256.3(MYBPC3):c.654+2_654+4dup rs730880682
NM_000257.4(MYH7):c.5346GAA[2] (p.Lys1784del) rs730880935
NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup) rs397516593
NM_001276345.2(TNNT2):c.304_305insTTC (p.His101_Arg102insLeu) rs730881117
NM_002667.5(PLN):c.63_64dup (p.Gln22fs) rs794729138
NM_006393.3(NEBL):c.72AGA[1] (p.Glu25del) rs794729080

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