ClinVar Miner

List of variants in gene TTBK2 reported by Athena Diagnostics Inc

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Gene type:
ClinVar version:
Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_173500.4(TTBK2):c.23T>C (p.Leu8Pro) rs6493068 0.47359
NM_173500.4(TTBK2):c.-8G>A rs16957250 0.08720
NM_173500.4(TTBK2):c.3251C>T (p.Thr1084Met) rs34348991 0.02971
NM_173500.4(TTBK2):c.3669C>T (p.His1223=) rs74398902 0.01170
NM_173500.4(TTBK2):c.2592A>G (p.Glu864=) rs56307230 0.01001
NM_173500.4(TTBK2):c.2133C>A (p.Phe711Leu) rs76000738 0.00477
NM_173500.4(TTBK2):c.980+8C>A rs143836514 0.00447
NM_173500.4(TTBK2):c.937A>G (p.Thr313Ala) rs56017612 0.00284
NM_173500.4(TTBK2):c.2210T>C (p.Ile737Thr) rs146515654 0.00267
NM_173500.4(TTBK2):c.1059C>T (p.Ser353=) rs200405805 0.00172
NM_173500.4(TTBK2):c.3185C>T (p.Thr1062Ile) rs55833708 0.00138
NM_173500.4(TTBK2):c.1105C>T (p.Pro369Ser) rs202237707 0.00137
NM_173500.4(TTBK2):c.3331C>G (p.Leu1111Val) rs144199562 0.00136
NM_173500.4(TTBK2):c.2941C>G (p.Leu981Val) rs180791005 0.00124
NM_173500.4(TTBK2):c.3329G>A (p.Arg1110His) rs146279300 0.00094
NM_173500.4(TTBK2):c.1929T>C (p.Ala643=) rs376543555 0.00066
NM_173500.4(TTBK2):c.144A>C (p.Ala48=) rs183146681 0.00043
NM_173500.4(TTBK2):c.3021A>G (p.Leu1007=) rs201662235 0.00038
NM_173500.4(TTBK2):c.1555G>C (p.Ala519Pro) rs200124857 0.00029
NM_173500.4(TTBK2):c.245G>C (p.Gly82Ala) rs200821440 0.00029
NM_173500.4(TTBK2):c.1949C>T (p.Ala650Val) rs369045579 0.00028
NM_173500.4(TTBK2):c.1618C>T (p.Leu540=) rs369686818 0.00024
NM_173500.4(TTBK2):c.2071G>A (p.Glu691Lys) rs369896751 0.00016
NM_173500.4(TTBK2):c.3543G>A (p.Ser1181=) rs199635198 0.00016
NM_173500.4(TTBK2):c.3258T>C (p.Pro1086=) rs772205818 0.00014
NM_173500.4(TTBK2):c.1015C>T (p.Leu339Phe) rs371538715 0.00013
NM_173500.4(TTBK2):c.1100A>T (p.Lys367Ile) rs764753481 0.00013
NM_173500.4(TTBK2):c.1247A>G (p.Asn416Ser) rs200010694 0.00013
NM_173500.4(TTBK2):c.1897T>C (p.Tyr633His) rs370977106 0.00013
NM_173500.4(TTBK2):c.1645T>G (p.Ser549Ala) rs376556189 0.00012
NM_173500.4(TTBK2):c.1408T>C (p.Cys470Arg) rs373500080 0.00011
NM_173500.4(TTBK2):c.3722A>C (p.Lys1241Thr) rs36104367 0.00011
NM_173500.4(TTBK2):c.1274G>A (p.Arg425His) rs370495535 0.00006
NM_173500.4(TTBK2):c.1354G>A (p.Glu452Lys) rs527763642 0.00006
NM_173500.4(TTBK2):c.1822C>G (p.His608Asp) rs184167929 0.00006
NM_173500.4(TTBK2):c.2514C>G (p.Asp838Glu) rs763268802 0.00006
NM_173500.4(TTBK2):c.3443G>A (p.Arg1148His) rs199594294 0.00006
NM_173500.4(TTBK2):c.441C>T (p.Phe147=) rs754428166 0.00006
NM_173500.4(TTBK2):c.588C>T (p.Asn196=) rs531094726 0.00006
NM_173500.4(TTBK2):c.2299G>A (p.Val767Met) rs752400040 0.00005
NM_173500.4(TTBK2):c.2598G>A (p.Gln866=) rs767693364 0.00005
NM_173500.4(TTBK2):c.2746C>A (p.Leu916Ile) rs371807025 0.00005
NM_173500.4(TTBK2):c.3484C>T (p.Arg1162Cys) rs200437800 0.00005
NM_173500.4(TTBK2):c.1936C>G (p.Gln646Glu) rs200773248 0.00004
NM_173500.4(TTBK2):c.1060G>A (p.Asp354Asn) rs748178741 0.00003
NM_173500.4(TTBK2):c.108C>T (p.Tyr36=) rs56234199 0.00003
NM_173500.4(TTBK2):c.187A>G (p.Met63Val) rs749472718 0.00003
NM_173500.4(TTBK2):c.3418C>T (p.Pro1140Ser) rs576737530 0.00003
NM_173500.4(TTBK2):c.3216G>A (p.Gln1072=) rs765294536 0.00002
NM_173500.4(TTBK2):c.3367C>T (p.Arg1123Trp) rs199820364 0.00002
NM_173500.4(TTBK2):c.452G>A (p.Arg151His) rs375070421 0.00002
NM_173500.4(TTBK2):c.1051C>A (p.Gln351Lys) rs908445283 0.00001
NM_173500.4(TTBK2):c.1126C>T (p.Arg376Cys) rs759216076 0.00001
NM_173500.4(TTBK2):c.1261G>A (p.Gly421Arg) rs1889964761 0.00001
NM_173500.4(TTBK2):c.1360C>T (p.Arg454Cys) rs758352842 0.00001
NM_173500.4(TTBK2):c.1399C>T (p.Leu467Phe) rs377471302 0.00001
NM_173500.4(TTBK2):c.1895A>T (p.Gln632Leu) rs779249410 0.00001
NM_173500.4(TTBK2):c.2619G>A (p.Met873Ile) rs1167737727 0.00001
NM_173500.4(TTBK2):c.3035C>T (p.Ala1012Val) rs752316838 0.00001
NM_173500.4(TTBK2):c.3130A>G (p.Ile1044Val) rs1439802446 0.00001
NM_173500.4(TTBK2):c.3357T>G (p.Ser1119=) rs745306977 0.00001
NM_173500.4(TTBK2):c.3427A>G (p.Ser1143Gly) rs777159553 0.00001
NM_173500.4(TTBK2):c.3431C>T (p.Pro1144Leu) rs2061791659 0.00001
NM_173500.4(TTBK2):c.1112C>T (p.Ser371Phe)
NM_173500.4(TTBK2):c.112G>A (p.Ala38Thr)
NM_173500.4(TTBK2):c.1200T>C (p.Ala400=)
NM_173500.4(TTBK2):c.1232dup (p.Asn412fs) rs2140770415
NM_173500.4(TTBK2):c.1271T>C (p.Ile424Thr) rs1595898962
NM_173500.4(TTBK2):c.1319T>G (p.Val440Gly) rs1555422978
NM_173500.4(TTBK2):c.1437T>A (p.Ser479Arg) rs1889887053
NM_173500.4(TTBK2):c.1439C>A (p.Ala480Glu) rs1238647143
NM_173500.4(TTBK2):c.1499G>C (p.Arg500Pro) rs56039839
NM_173500.4(TTBK2):c.1552C>G (p.Pro518Ala) rs1555422795
NM_173500.4(TTBK2):c.1698A>G (p.Thr566=) rs1171245575
NM_173500.4(TTBK2):c.1973C>T (p.Ala658Val)
NM_173500.4(TTBK2):c.2120C>T (p.Pro707Leu)
NM_173500.4(TTBK2):c.2175A>G (p.Gly725=) rs759376111
NM_173500.4(TTBK2):c.2293C>G (p.Leu765Val)
NM_173500.4(TTBK2):c.2356T>G (p.Ser786Ala)
NM_173500.4(TTBK2):c.2484A>C (p.Thr828=) rs567793736
NM_173500.4(TTBK2):c.2484A>G (p.Thr828=)
NM_173500.4(TTBK2):c.2798T>C (p.Met933Thr)
NM_173500.4(TTBK2):c.2980G>T (p.Asp994Tyr) rs377620628
NM_173500.4(TTBK2):c.2983del (p.Leu995fs) rs2140591830
NM_173500.4(TTBK2):c.3471C>T (p.Ser1157=)
NM_173500.4(TTBK2):c.3620A>G (p.Glu1207Gly) rs1555418358
NM_173500.4(TTBK2):c.477T>C (p.Cys159=)
NM_173500.4(TTBK2):c.822G>C (p.Gln274His) rs2140925012
NM_173500.4(TTBK2):c.934T>A (p.Ser312Thr)

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