ClinVar Miner

List of variants reported as likely pathogenic for Primary familial dilated cardiomyopathy

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Total variants: 30
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HGVS dbSNP
NM_000117.3(EMD):c.265+2T>A rs1603365762
NM_000256.3(MYBPC3):c.3771C>A (p.Asn1257Lys) rs730880603
NM_000257.4(MYH7):c.1549C>A (p.Leu517Met) rs727504237
NM_000257.4(MYH7):c.3578G>A (p.Arg1193His) rs397516187
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) rs267607004
NM_001267550.1(TTN):c.42315_42318del rs878854371
NM_001267550.2(TTN):c.103857G>A (p.Trp34619Ter) rs1575253896
NM_001267550.2(TTN):c.104771C>A (p.Ser34924Ter) rs1559003939
NM_001267550.2(TTN):c.104950del (p.Glu34984fs) rs727503533
NM_001267550.2(TTN):c.12268C>T (p.Gln4090Ter) rs1574087037
NM_001267550.2(TTN):c.12523_12524del (p.Gln4175fs) rs1574083547
NM_001267550.2(TTN):c.51436C>T (p.Gln17146Ter) rs906494713
NM_001267550.2(TTN):c.65655del (p.Thr21886fs) rs1575948935
NM_001267550.2(TTN):c.69838C>T (p.Gln23280Ter)
NM_001267550.2(TTN):c.81532G>T (p.Glu27178Ter) rs397517721
NM_001267550.2(TTN):c.89197+1G>C rs1131691873
NM_001276345.2(TNNT2):c.385G>C (p.Glu129Gln) rs1571627006
NM_001276345.2(TNNT2):c.445C>T (p.Arg149Cys) rs397516465
NM_001276345.2(TNNT2):c.490-1G>C rs111344408
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp) rs45586240
NM_001276345.2(TNNT2):c.784G>A (p.Glu262Lys) rs727504488
NM_001458.4(FLNC):c.7385-1G>A rs1585171818
NM_004281.3(BAG3):c.836C>A (p.Ser279Ter) rs751261054
NM_004281.4(BAG3):c.969_972del (p.Lys324fs) rs1589632398
NM_004415.4(DSP):c.3466C>T (p.Gln1156Ter) rs1581815654
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys) rs61094188
NM_170707.4(LMNA):c.1494G>T (p.Trp498Cys) rs57730570
NM_170707.4(LMNA):c.274C>T (p.Leu92Phe) rs267607560
NM_170707.4(LMNA):c.296G>C (p.Arg99Pro) rs1572332762
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906

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