ClinVar Miner

List of variants reported as benign for Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_013254.4(TBK1):c.978T>A (p.Ile326=) rs7486100 0.43650
NM_013254.4(TBK1):c.66T>C (p.Asn22=) rs41292019 0.03018
NM_013254.4(TBK1):c.1391T>C (p.Val464Ala) rs35635889 0.01470
NM_013254.4(TBK1):c.2139-11G>A rs41292027 0.00800
NM_013254.4(TBK1):c.1761-11C>T rs145696668 0.00344
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.1522C>A (p.Leu508Ile) rs144424516 0.00245
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.1227C>T (p.Asp409=) rs150609728 0.00088
NM_013254.4(TBK1):c.1189+10G>A rs185457813 0.00061
NM_013254.4(TBK1):c.916C>A (p.Leu306Ile) rs201970436 0.00018
NM_013254.4(TBK1):c.108T>C (p.Ala36=) rs202056661 0.00012
NM_013254.4(TBK1):c.630A>T (p.Thr210=) rs201336522 0.00008
NM_013254.4(TBK1):c.1839G>T (p.Leu613Phe) rs368859659 0.00003
NM_013254.4(TBK1):c.1341-3del rs201728462
NM_013254.4(TBK1):c.1796C>T (p.Thr599Met)
NM_013254.4(TBK1):c.1954_1956del (p.Asn652del) rs141727722
NM_013254.4(TBK1):c.1960-10G>T rs371275822
NM_013254.4(TBK1):c.201T>C (p.Ile67=)
NM_013254.4(TBK1):c.229-4dup rs57810028
NM_013254.4(TBK1):c.229-5_229-4dup
NM_013254.4(TBK1):c.358+13A>G
NM_013254.4(TBK1):c.541-9del rs369498196
NM_013254.4(TBK1):c.541-9dup rs369498196
NM_013254.4(TBK1):c.812+18A>G
NM_013254.4(TBK1):c.992+13A>G
NM_013254.4(TBK1):c.992+21_992+23del rs138753162

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