ClinVar Miner

List of variants in gene TTN reported by Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre

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Total variants: 21
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HGVS dbSNP
NM_001256850.1(TTN):c.3295G>A (p.Val1099Met) rs368282893
NM_001256850.1(TTN):c.78358G>A (p.Val26120Ile) rs371788070
NM_001256850.1(TTN):c.93098G>A (p.Arg31033His) rs750969198
NM_001267550.2(TTN):c.107255G>A (p.Arg35752His) rs760107623
NM_001267550.2(TTN):c.22682A>G (p.Tyr7561Cys) rs786205544
NM_001267550.2(TTN):c.27677G>A (p.Cys9226Tyr) rs369108107
NM_001267550.2(TTN):c.32470+3A>G rs786205543
NM_001267550.2(TTN):c.44269C>G (p.Leu14757Val) rs786205542
NM_001267550.2(TTN):c.52553G>A (p.Arg17518His) rs559590585
NM_001267550.2(TTN):c.62330G>A (p.Gly20777Glu) rs786205541
NM_001267550.2(TTN):c.6292C>G (p.Arg2098Gly) rs763722868
NM_001267550.2(TTN):c.66283C>T (p.Arg22095Trp) rs571093313
NM_001267550.2(TTN):c.67534G>T (p.Asp22512Tyr) rs786205540
NM_001267550.2(TTN):c.6959G>A (p.Arg2320His) rs374615369
NM_001267550.2(TTN):c.70819G>A (p.Ala23607Thr) rs786205539
NM_001267550.2(TTN):c.74840G>A (p.Arg24947His) rs765512476
NM_001267550.2(TTN):c.88613delG (p.Gly29538Valfs) rs786205639
NM_001267550.2(TTN):c.90223C>T (p.Gln30075Ter) rs786205538
NM_001267550.2(TTN):c.90890T>A (p.Phe30297Tyr) rs786205537
NM_001267550.2(TTN):c.92813G>C (p.Arg30938Thr) rs786205536
NM_001267550.2(TTN):c.97315C>T (p.Gln32439Ter) rs767837705

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