ClinVar Miner

List of variants in gene combination LOC126806425, TTN reported by PreventionGenetics, part of Exact Sciences

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.52917T>C (p.Asp17639=) rs73036398 0.02352
NM_001267550.2(TTN):c.52821T>C (p.Asp17607=) rs2303831 0.02082
NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile) rs2303832 0.02072
NM_001267550.2(TTN):c.52706-17A>G rs72646807 0.01524
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His) rs72646808 0.00118
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys) rs201213901 0.00115
NM_001267550.2(TTN):c.53055G>A (p.Met17685Ile) rs200387466 0.00074
NM_001267550.2(TTN):c.53226T>C (p.Tyr17742=) rs202200861 0.00028
NM_001267550.2(TTN):c.52656T>C (p.Pro17552=) rs371031259 0.00025
NM_001267550.2(TTN):c.53142T>C (p.Asp17714=) rs373316165 0.00007
NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu) rs397517612 0.00001
NM_001267550.2(TTN):c.53390C>T (p.Thr17797Ile) rs727503610 0.00001
NM_001267550.2(TTN):c.52778dup (p.Ala17594fs)
NM_001267550.2(TTN):c.53011G>T (p.Ala17671Ser)
NM_001267550.2(TTN):c.53122_53123delinsGT (p.Lys17708Val) rs886042743
NM_001267550.2(TTN):c.53259A>T (p.Lys17753Asn)
NM_001267550.2(TTN):c.53287+10G>A
NM_001267550.2(TTN):c.53287+7A>G
NM_001267550.2(TTN):c.53355G>A (p.Trp17785Ter) rs794729273

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