ClinVar Miner

List of variants in gene TTN reported by Broad Institute Rare Disease Group,Broad Institute

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Gene type:
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Total variants: 16
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HGVS dbSNP
NM_001267550.2(TTN):c.101789del (p.Leu33930fs) rs1575285509
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.105423C>G (p.Tyr35141Ter) rs534484592
NM_001267550.2(TTN):c.107163_107167del (p.Phe35721fs) rs794727544
NM_001267550.2(TTN):c.107351C>G (p.Ser35784Ter) rs1575185742
NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter) rs1009131948
NM_001267550.2(TTN):c.107889del (p.Lys35963fs) rs281864930
NM_001267550.2(TTN):c.29619_29620AG[1] (p.Glu9874fs) rs777924443
NM_001267550.2(TTN):c.30440A>C (p.Tyr10147Ser) rs1577672002
NM_001267550.2(TTN):c.35041G>T (p.Glu11681Ter) rs557526069
NM_001267550.2(TTN):c.35678C>G (p.Thr11893Ser) rs750832804
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter) rs878854299
NM_001267550.2(TTN):c.35828dup (p.Glu11945Argfs) rs765879488
NM_001267550.2(TTN):c.58195C>T (p.Arg19399Ter) rs768073446
NM_001267550.2(TTN):c.59205del (p.Glu19735fs) rs397517643
NM_001267550.2(TTN):c.91715dup (p.Asn30572fs) rs779129892

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