ClinVar Miner

List of variants in gene TTN studied for See cases

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.60232G>A (p.Val20078Met) rs77351975 0.00719
NM_001267550.2(TTN):c.35921T>C (p.Met11974Thr) rs535815566 0.00035
NM_001267550.2(TTN):c.73303C>T (p.Arg24435Cys) rs200028088 0.00012
NM_001267550.2(TTN):c.13376T>C (p.Ile4459Thr) rs763065439 0.00006
NM_001267550.2(TTN):c.94507G>A (p.Ala31503Thr) rs375657115 0.00004
NM_001267550.2(TTN):c.12103A>G (p.Met4035Val) rs727503659 0.00003
NM_001267550.2(TTN):c.63709A>G (p.Thr21237Ala) rs766847414 0.00001
NM_001267550.2(TTN):c.78989G>A (p.Ser26330Asn) rs1427996263 0.00001
NM_001267550.2(TTN):c.91781G>A (p.Arg30594His) rs759363893 0.00001
NM_001267550.2(TTN):c.104714_104715delinsG (p.Phe34905fs) rs2154133864
NM_001267550.2(TTN):c.13194A>C (p.Gln4398His) rs375347596
NM_001267550.2(TTN):c.34708+8C>A rs762808097
NM_001267550.2(TTN):c.52102+5G>A rs886042399
NM_001267550.2(TTN):c.5311G>T (p.Asp1771Tyr) rs2154346208
NM_001267550.2(TTN):c.56330_56334del (p.Met18777fs) rs1559669161
NM_001267550.2(TTN):c.59127del (p.Ser19710fs) rs2050559188
NM_133379.5(TTN):c.10707G>T (p.Arg3569Ser) rs527359787

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