ClinVar Miner

List of variants in gene TBK1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_013254.4(TBK1):c.1391T>C (p.Val464Ala) rs35635889 0.01470
NM_013254.4(TBK1):c.519G>A (p.Leu173=) rs73313869 0.00315
NM_013254.4(TBK1):c.9C>T (p.Ser3=) rs115692983 0.00280
NM_013254.4(TBK1):c.1110C>T (p.Phe370=) rs143590388 0.00155
NM_013254.4(TBK1):c.135C>T (p.Phe45=) rs11538420 0.00108
NM_013254.4(TBK1):c.378A>G (p.Leu126=) rs144462850 0.00011
NM_013254.4(TBK1):c.871A>G (p.Lys291Glu) rs34774243 0.00011
NM_013254.4(TBK1):c.1073G>A (p.Arg358His) rs374208742 0.00010
NM_013254.4(TBK1):c.630A>T (p.Thr210=) rs201336522 0.00008
NM_013254.4(TBK1):c.125A>G (p.Asn42Ser) rs748061846 0.00004
NM_013254.4(TBK1):c.2177T>C (p.Val726Ala) rs765585935 0.00003
NM_013254.4(TBK1):c.314A>G (p.Tyr105Cys) rs1366668789 0.00002
NM_013254.4(TBK1):c.2047T>C (p.Leu683=) rs369067312 0.00001
NM_013254.3(TBK1):c.1644-5_1644-2del rs755646937
NM_013254.4(TBK1):c.1063G>A (p.Glu355Lys)
NM_013254.4(TBK1):c.1341-3del rs201728462
NM_013254.4(TBK1):c.1402T>C (p.Leu468=)
NM_013254.4(TBK1):c.1463T>G (p.Ile488Ser)
NM_013254.4(TBK1):c.146T>G (p.Val49Gly) rs2040531971
NM_013254.4(TBK1):c.1475C>T (p.Ala492Val) rs2040854843
NM_013254.4(TBK1):c.1644T>C (p.Asn548=)
NM_013254.4(TBK1):c.1760+4_1760+7del rs753802322
NM_013254.4(TBK1):c.1922AAG[2] (p.Glu643del) rs1402092579
NM_013254.4(TBK1):c.2138+2T>C rs876657406
NM_013254.4(TBK1):c.217A>G (p.Ile73Val)
NM_013254.4(TBK1):c.286A>G (p.Thr96Ala)
NM_013254.4(TBK1):c.312C>T (p.Ala104=)
NM_013254.4(TBK1):c.358+7T>C rs2136061133
NM_013254.4(TBK1):c.379C>T (p.Arg127Ter) rs1064797170
NM_013254.4(TBK1):c.548A>G (p.Asp183Gly) rs1592362609
NM_013254.4(TBK1):c.709A>G (p.Ile237Val) rs2136074639
NM_013254.4(TBK1):c.723G>C (p.Lys241Asn)
NM_013254.4(TBK1):c.87+1831A>G

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