ClinVar Miner

List of variants in gene combination LOC126806433, TTN reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser) rs4894048 0.05739
NM_001267550.2(TTN):c.7061G>A (p.Arg2354His) rs75031300 0.00287
NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys) rs145039979 0.00021
NM_001267550.2(TTN):c.7316G>A (p.Arg2439His) rs142129359 0.00016
NM_001267550.2(TTN):c.7157G>A (p.Gly2386Asp) rs142926566 0.00006
NM_001267550.2(TTN):c.6949C>T (p.Arg2317Cys) rs750101152 0.00002
NM_001267550.2(TTN):c.7392T>C (p.Leu2464=) rs565784637 0.00002
NM_001267550.2(TTN):c.6844T>C (p.Tyr2282His) rs727503691 0.00001
NM_001267550.2(TTN):c.6941T>C (p.Ile2314Thr) rs397517708 0.00001
NM_001267550.2(TTN):c.7173C>T (p.Asp2391=) rs374509926 0.00001
NM_001267550.2(TTN):c.6913G>A (p.Glu2305Lys) rs367761468
NM_001267550.2(TTN):c.6981T>C (p.Asp2327=) rs397517709
NM_001267550.2(TTN):c.7133A>G (p.Lys2378Arg) rs727503690
NM_001267550.2(TTN):c.7242T>C (p.Ile2414=) rs727503689

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