ClinVar Miner

List of variants in gene TTBK2 reported as uncertain significance by Athena Diagnostics Inc

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Gene type:
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_173500.4(TTBK2):c.2071G>A (p.Glu691Lys) rs369896751 0.00016
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.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.2746C>A (p.Leu916Ile) rs371807025 0.00005
NM_173500.4(TTBK2):c.3484C>T (p.Arg1162Cys) rs200437800 0.00005
NM_173500.4(TTBK2):c.1060G>A (p.Asp354Asn) rs748178741 0.00003
NM_173500.4(TTBK2):c.187A>G (p.Met63Val) rs749472718 0.00003
NM_173500.4(TTBK2):c.3367C>T (p.Arg1123Trp) rs199820364 0.00002
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.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.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.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.2293C>G (p.Leu765Val)
NM_173500.4(TTBK2):c.2356T>G (p.Ser786Ala)
NM_173500.4(TTBK2):c.2484A>G (p.Thr828=)
NM_173500.4(TTBK2):c.2798T>C (p.Met933Thr)
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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