ClinVar Miner

List of variants reported as likely pathogenic for Dilated cardiomyopathy 1G by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.101943C>G (p.Tyr33981Ter) rs1575283255 0.00001
NM_001267550.2(TTN):c.59201_59202del (p.Pro19734fs) rs752948913 0.00001
NM_001267550.2(TTN):c.67348+1G>A rs758279518 0.00001
NM_001267550.2(TTN):c.76654C>T (p.Arg25552Ter) rs545954490 0.00001
NM_001267550.2(TTN):c.83416C>T (p.Arg27806Ter) rs886055237 0.00001
NM_001267550.2(TTN):c.94855C>T (p.Arg31619Ter) rs869312121 0.00001
NM_001267550.2(TTN):c.101098delinsCT (p.Asp33700fs) rs794729367
NM_001267550.2(TTN):c.103899_103903dup (p.Ala34635fs)
NM_001267550.2(TTN):c.13174A>T (p.Arg4392Ter) rs2530637215
NM_001267550.2(TTN):c.14056del (p.Thr4686fs) rs869312104
NM_001267550.2(TTN):c.14089dup (p.Arg4697fs)
NM_001267550.2(TTN):c.3351dup (p.Ser1118fs) rs2092847994
NM_001267550.2(TTN):c.41473C>T (p.Arg13825Ter) rs869312043
NM_001267550.2(TTN):c.43727_43728del (p.Glu14576fs) rs794729316
NM_001267550.2(TTN):c.44284C>T (p.Arg14762Ter) rs770767998
NM_001267550.2(TTN):c.45567C>G (p.Tyr15189Ter)
NM_001267550.2(TTN):c.4607C>T (p.Ala1536Val)
NM_001267550.2(TTN):c.47142_47143del (p.Cys15714_Glu15715delinsTer) rs869312107
NM_001267550.2(TTN):c.47802_47803dup (p.Ser15935fs)
NM_001267550.2(TTN):c.47875+1G>A rs869312047
NM_001267550.2(TTN):c.48639-2A>C
NM_001267550.2(TTN):c.49997dup (p.Asn16666fs)
NM_001267550.2(TTN):c.50110_50111del (p.Thr16704fs)
NM_001267550.2(TTN):c.50353A>T (p.Arg16785Ter)
NM_001267550.2(TTN):c.51739+1G>C rs727504799
NM_001267550.2(TTN):c.52705+1G>A
NM_001267550.2(TTN):c.57718C>T (p.Arg19240Ter) rs2051361827
NM_001267550.2(TTN):c.58870C>T (p.Arg19624Ter) rs1553649171
NM_001267550.2(TTN):c.59926+2T>C
NM_001267550.2(TTN):c.60407_60410dup (p.Ile20138fs) rs2469472881
NM_001267550.2(TTN):c.61495C>T (p.Arg20499Ter) rs869312112
NM_001267550.2(TTN):c.62909dup (p.Glu20971fs) rs876657666
NM_001267550.2(TTN):c.64245G>A (p.Trp21415Ter) rs369299712
NM_001267550.2(TTN):c.67491G>A (p.Trp22497Ter)
NM_001267550.2(TTN):c.75328C>T (p.Arg25110Ter) rs794729382
NM_001267550.2(TTN):c.78340_78349del (p.Tyr26114fs) rs2468336617
NM_001267550.2(TTN):c.80922del (p.Pro26975fs)
NM_001267550.2(TTN):c.84586_84589del (p.Arg28196fs) rs1703664543
NM_001267550.2(TTN):c.86190_86191insTAAAAAAAAAG (p.Val28731Ter)
NM_001267550.2(TTN):c.87716del (p.Gly29239fs) rs869312028
NM_001267550.2(TTN):c.87814del (p.Tyr29272fs)
NM_001267550.2(TTN):c.90085del (p.Glu30029fs) rs2469304171
NM_001267550.2(TTN):c.92248_92260del (p.Glu30750fs)
NM_004415.4(DSP):c.4473_4495dup (p.Cys1499fs)

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