ClinVar Miner

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

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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys) rs61094188 0.00015
NM_001267550.2(TTN):c.89197+1G>C rs1131691873 0.00003
NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter) rs745376275 0.00002
NM_000257.4(MYH7):c.3578G>A (p.Arg1193His) rs397516187 0.00001
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) rs267607004 0.00001
NM_001276345.2(TNNT2):c.490-1G>C rs111344408 0.00001
NM_170707.4(LMNA):c.274C>T (p.Leu92Phe) rs267607560 0.00001
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906 0.00001
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_000363.5(TNNI3):c.204del (p.Arg69fs) rs727504872
NM_001134363.3(RBM20):c.2687del (p.Glu896fs) rs2135120754
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.105747_105766del (p.Pro35250fs)
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.42315_42318del (p.Lys14105fs) rs878854371
NM_001267550.2(TTN):c.43960C>T (p.Gln14654Ter) rs1463883512
NM_001267550.2(TTN):c.51436C>T (p.Gln17146Ter) rs906494713
NM_001267550.2(TTN):c.52233_52237del (p.Lys17413fs) rs2055544893
NM_001267550.2(TTN):c.53259del (p.Lys17753fs) rs1389777522
NM_001267550.2(TTN):c.55200_55204delinsG (p.Val18401fs)
NM_001267550.2(TTN):c.60993_60994del (p.Arg20331fs) rs2154184570
NM_001267550.2(TTN):c.61614del (p.Ala20539fs)
NM_001267550.2(TTN):c.65655del (p.Thr21886fs) rs1575948935
NM_001267550.2(TTN):c.69838C>T (p.Gln23280Ter) rs1710057805
NM_001267550.2(TTN):c.75568del (p.Ala25190fs)
NM_001267550.2(TTN):c.78348dup (p.Gly26117fs)
NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter) rs869025545
NM_001267550.2(TTN):c.81532G>T (p.Glu27178Ter) rs397517721
NM_001267550.2(TTN):c.83339_83342del (p.Lys27780fs)
NM_001267550.2(TTN):c.85612_85619del (p.Glu28538fs) rs794729353
NM_001267550.2(TTN):c.89040G>A (p.Trp29680Ter)
NM_001267550.2(TTN):c.8983del (p.Glu2995fs)
NM_001267550.2(TTN):c.90370G>T (p.Glu30124Ter) rs1553539995
NM_001267550.2(TTN):c.90760G>T (p.Gly30254Ter) rs1060500495
NM_001267550.2(TTN):c.98468dup (p.Asp32823fs) rs2154140040
NM_001267550.2(TTN):c.98994del (p.Lys32998fs) rs727504535
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.643C>T (p.Arg215Trp) rs45586240
NM_001276345.2(TNNT2):c.784G>A (p.Glu262Lys) rs727504488
NM_001458.5(FLNC):c.4346C>G (p.Ser1449Ter)
NM_001458.5(FLNC):c.4581-2A>G
NM_001458.5(FLNC):c.4584dup (p.Phe1529fs)
NM_001458.5(FLNC):c.617G>A (p.Trp206Ter)
NM_001458.5(FLNC):c.6742C>T (p.Gln2248Ter)
NM_001458.5(FLNC):c.7385-1G>A rs1585171818
NM_001458.5(FLNC):c.7581del (p.Ile2527fs)
NM_001458.5(FLNC):c.7750_7769dup (p.Lys2591fs) rs2128940399
NM_004281.4(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.1494G>T (p.Trp498Cys) rs57730570
NM_170707.4(LMNA):c.296G>C (p.Arg99Pro) rs1572332762

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