ClinVar Miner

List of variants in gene TTN reported by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.54796G>T (p.Ala18266Ser) rs199837769 0.00013
NM_001267550.2(TTN):c.104261C>T (p.Ala34754Val) rs727505020 0.00006
NM_001267550.2(TTN):c.100590C>G (p.Tyr33530Ter) rs1489832770
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.2447T>C (p.Phe816Ser) rs2093121464
NM_001267550.2(TTN):c.28383del (p.Gly9462fs) rs2154295037
NM_001267550.2(TTN):c.38424del (p.Lys12809fs) rs1553775991
NM_001267550.2(TTN):c.49621G>T (p.Glu16541Ter) rs2056671421
NM_001267550.2(TTN):c.54406_54409del (p.Gln18136fs)
NM_001267550.2(TTN):c.54652C>T (p.Arg18218Ter)
NM_001267550.2(TTN):c.60988T>C (p.Phe20330Leu) rs2050031384
NM_001267550.2(TTN):c.61009G>T (p.Glu20337Ter) rs2050024892
NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter) rs794729280
NM_001267550.2(TTN):c.80762_80765del (p.Lys26921fs) rs2154164725
NM_001267550.2(TTN):c.86168del (p.Phe28723fs)
NM_001267550.2(TTN):c.87315dup (p.Glu29106fs) rs1702181550
NM_001267550.2(TTN):c.97472_97473del (p.Ile32491fs)
NM_001267550.2(TTN):c.97560G>A (p.Trp32520Ter) rs1694489284

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