ClinVar Miner

List of variants in gene TTN reported by Centre for Mendelian Genomics,University Medical Centre Ljubljana

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Total variants: 16
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HGVS dbSNP
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) rs757082154
NM_001267550.2(TTN):c.11311+4088A>G rs142304137
NM_001267550.2(TTN):c.11444A>C (p.Lys3815Thr) rs1184657184
NM_001267550.2(TTN):c.12614T>C (p.Leu4205Ser) rs1057518931
NM_001267550.2(TTN):c.20836+1G>A rs1553915256
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys) rs375266859
NM_001267550.2(TTN):c.30395A>G (p.His10132Arg) rs1057518758
NM_001267550.2(TTN):c.35265dup (p.Pro11756fs) rs1198364572
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn) rs201257644
NM_001267550.2(TTN):c.47961del (p.Gly15988fs) rs1553707780
NM_001267550.2(TTN):c.73604C>A (p.Ser24535Tyr) rs201804005
NM_001267550.2(TTN):c.74567G>A (p.Trp24856Ter) rs1057518851
NM_001267550.2(TTN):c.81899G>A (p.Arg27300His) rs55850344
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr) rs200766837
NM_133378.4(TTN):c.61120+1G>A rs112484439

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