ClinVar Miner

Variants in gene TTBK2 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 18
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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.603+17G>C rs115190236 0.01219
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.1059C>T (p.Ser353=) rs200405805 0.00172
NM_173500.4(TTBK2):c.3185C>T (p.Thr1062Ile) rs55833708 0.00138
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.1555G>C (p.Ala519Pro) rs200124857 0.00029
NM_173500.4(TTBK2):c.1949C>T (p.Ala650Val) rs369045579 0.00028
NM_173500.4(TTBK2):c.2171G>A (p.Gly724Glu) rs201524659 0.00027
NM_173500.4(TTBK2):c.1618C>T (p.Leu540=) rs369686818 0.00024
NM_173500.4(TTBK2):c.1354G>A (p.Glu452Lys) rs527763642 0.00006
NM_173500.4(TTBK2):c.441C>T (p.Phe147=) rs754428166 0.00006
NM_173500.4(TTBK2):c.1936C>G (p.Gln646Glu) rs200773248 0.00004
NM_173500.4(TTBK2):c.1499G>C (p.Arg500Pro) rs56039839

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