ClinVar Miner

List of variants in gene TTN reported as likely pathogenic by Stanford Center for Inherited Cardiovascular Disease,Stanford University

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Total variants: 16
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HGVS dbSNP
NM_001267550.2(TTN):c.47269+2T>C rs1060500419
NM_001267550.2(TTN):c.52077_52078delinsT (p.Lys17359fs) rs1559756452
NM_001267550.2(TTN):c.52307_52310dup (p.Glu17437delinsAspTer) rs794729323
NM_001267550.2(TTN):c.53259del (p.Lys17753fs) rs1389777522
NM_001267550.2(TTN):c.56732dup (p.Asp18911fs) rs397517626
NM_001267550.2(TTN):c.59634del (p.Pro19880fs) rs876661398
NM_001267550.2(TTN):c.62217T>A (p.Tyr20739Ter) rs727503586
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter) rs764243269
NM_001267550.2(TTN):c.66039del (p.Ser22014fs) rs1553628052
NM_001267550.2(TTN):c.74045del (p.Gly24682fs) rs1559409637
NM_001267550.2(TTN):c.75328C>T (p.Arg25110Ter) rs794729382
NM_001267550.2(TTN):c.75663del (p.Lys25221fs) rs1131691542
NM_001267550.2(TTN):c.76397_76398del (p.Ile25466fs) rs794729342
NM_001267550.2(TTN):c.94182_94183insAGCAGCT (p.Leu31395fs) rs1219954334
NM_001267550.2(TTN):c.94939del (p.Ile31647fs) rs1553521978
NM_001267550.2(TTN):c.99496G>T (p.Glu33166Ter) rs886038825

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