ClinVar Miner

List of variants reported as pathogenic for Primary dilated cardiomyopathy by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) rs59301204 0.00004
NM_001267550.2(TTN):c.49648+2del rs727504851 0.00003
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) rs45516091 0.00001
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) rs45546039 0.00001
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) rs267607004 0.00001
NM_001267550.2(TTN):c.80716C>T (p.Arg26906Ter) rs727505284 0.00001
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) rs60682848 0.00001
NM_170707.4(LMNA):c.768G>A (p.Val256=) rs794728593 0.00001
NM_000116.5(TAFAZZIN):c.718G>C (p.Gly240Arg) rs387907218
NM_000256.3(MYBPC3):c.2504del (p.Arg835fs) rs876657704
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) rs606231324
NM_000257.4(MYH7):c.1594T>C (p.Ser532Pro) rs121913642
NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys) rs727503253
NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys) rs397516254
NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys) rs397516355
NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn) rs199476317
NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu) rs267607003
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys) rs397516607
NM_001267550.2(TTN):c.66618C>A (p.Cys22206Ter) rs397517664
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.71980_71986delinsTA (p.Ala23994_Glu23996delinsTer) rs794729338
NM_001267550.2(TTN):c.86363G>A (p.Trp28788Ter) rs1064793814
NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln) rs397516464
NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp) rs727503512
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del) rs45578238
NM_001927.4(DES):c.38C>T (p.Ser13Phe) rs62636495
NM_002667.5(PLN):c.25C>T (p.Arg9Cys) rs111033559
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del) rs397516784
NM_004281.4(BAG3):c.1363G>A (p.Glu455Lys) rs397516881
NM_004281.4(BAG3):c.925C>T (p.Arg309Ter) rs869248137
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys) rs56984562
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_170707.4(LMNA):c.16C>T (p.Gln6Ter) rs61046466
NM_170707.4(LMNA):c.244G>A (p.Glu82Lys) rs59270054
NM_170707.4(LMNA):c.348dup (p.Lys117fs) rs267607646
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) rs28933093
NM_170707.4(LMNA):c.585C>G (p.Asn195Lys) rs28933091
NM_170707.4(LMNA):c.608A>G (p.Glu203Gly) rs28933092
NM_170707.4(LMNA):c.799T>C (p.Tyr267His) rs267607593
NM_170707.4(LMNA):c.958del (p.Leu320fs) rs397517915
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) rs267607554

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