ClinVar Miner

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

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.40558+1G>A rs368219776 0.00004
NM_001267550.2(TTN):c.89197+1G>C rs1131691873 0.00003
NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter) rs745376275 0.00002
NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter) rs1575649368 0.00001
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.107867T>C (p.Leu35956Pro) rs267607156
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.34709-1G>A rs727503634
NM_001267550.2(TTN):c.35029G>T (p.Glu11677Ter)
NM_001267550.2(TTN):c.36119-1G>C rs1239720687
NM_001267550.2(TTN):c.36267_36280+16del rs745871962
NM_001267550.2(TTN):c.42315_42318del (p.Lys14105fs) rs878854371
NM_001267550.2(TTN):c.43693C>T (p.Gln14565Ter)
NM_001267550.2(TTN):c.43960C>T (p.Gln14654Ter) rs1463883512
NM_001267550.2(TTN):c.47808del (p.Glu15937fs)
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.53653G>T (p.Glu17885Ter) rs727503607
NM_001267550.2(TTN):c.54112del (p.Glu18038fs) rs794729325
NM_001267550.2(TTN):c.55200_55204delinsG (p.Val18401fs)
NM_001267550.2(TTN):c.56283dup (p.Tyr18762fs)
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.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.84553C>T (p.Arg28185Ter) rs397517729
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

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