ClinVar Miner

List of variants in gene TAOK1 studied for Neurodevelopmental disorder

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_020791.4(TAOK1):c.1960C>T (p.Arg654Ter) rs2031934299 0.00001
NM_020791.4(TAOK1):c.2494C>T (p.Arg832Cys) rs372056956 0.00001
NM_020791.4(TAOK1):c.1303C>T (p.Arg435Ter) rs2153028697
NM_020791.4(TAOK1):c.1436dup (p.Met479fs) rs2153029219
NM_020791.4(TAOK1):c.210G>A (p.Trp70Ter) rs2153026442
NM_020791.4(TAOK1):c.2125C>T (p.Arg709Ter) rs1347078601
NM_020791.4(TAOK1):c.2161C>T (p.Gln721Ter) rs2150772043
NM_020791.4(TAOK1):c.227A>C (p.Glu76Ala) rs2508195156
NM_020791.4(TAOK1):c.289C>T (p.Arg97Cys) rs2508195356
NM_020791.4(TAOK1):c.332C>T (p.Ser111Phe) rs2030976698

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