ClinVar Miner

List of variants reported as benign for Spinocerebellar ataxia type 11

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_173500.4(TTBK2):c.-250G>C rs12437637 0.57925
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.*1162T>A rs79592696 0.00943
NM_173500.4(TTBK2):c.*966C>T rs145576687 0.00571
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.*581A>T rs575564250 0.00142
NM_173500.4(TTBK2):c.3185C>T (p.Thr1062Ile) rs55833708 0.00138
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_173500.3(TTBK2):c.-413G>C rs528520159 0.00096
NM_173500.4(TTBK2):c.3329G>A (p.Arg1110His) rs146279300 0.00094
NM_173500.4(TTBK2):c.2171G>A (p.Gly724Glu) rs201524659 0.00027
NM_173500.4(TTBK2):c.*490T>C rs142589086 0.00018
NM_173500.4(TTBK2):c.1100A>T (p.Lys367Ile) rs764753481 0.00013
NM_173500.4(TTBK2):c.2418A>G (p.Pro806=) rs185441376 0.00013
NM_173500.4(TTBK2):c.3517C>T (p.Arg1173Trp) rs373828657 0.00002
NM_173500.4(TTBK2):c.1499G>C (p.Arg500Pro) rs56039839
NM_173500.4(TTBK2):c.2030C>G (p.Thr677Arg)

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