ClinVar Miner

List of variants in gene TBK1 reported by Genome Diagnostics Laboratory, Amsterdam University Medical Center

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Total variants: 8
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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.1110C>T (p.Phe370=) rs143590388 0.00155
NM_013254.4(TBK1):c.871A>G (p.Lys291Glu) rs34774243 0.00011
NM_013254.4(TBK1):c.1960-10G>T rs371275822
NM_013254.4(TBK1):c.229-4dup rs57810028
NM_013254.4(TBK1):c.541-9del rs369498196

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