ClinVar Miner

List of variants reported as pathogenic for Primary dilated cardiomyopathy by Blueprint Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter) rs201754030 0.00136
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) rs267607004 0.00001
NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys) rs727503253
NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser) rs267607002
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) rs74315379
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) rs397516706
NM_170707.4(LMNA):c.1086del (p.Leu363fs) rs58389804
NM_170707.4(LMNA):c.710T>C (p.Phe237Ser) rs730880132

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