ClinVar Miner

List of variants in gene KHK reported as uncertain significance for not specified

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_006488.3(KHK):c.210-304C>T rs201995559 0.00011
NM_006488.3(KHK):c.470A>C (p.Asn157Thr) rs150233686 0.00009
NM_006488.3(KHK):c.396G>T (p.Gln132His) rs755158028 0.00002
NM_006488.3(KHK):c.104A>G (p.Gln35Arg) rs143419158 0.00001
NM_006488.3(KHK):c.463G>A (p.Ala155Thr) rs776211460 0.00001
NM_006488.3(KHK):c.157C>T (p.Leu53Phe)
NM_006488.3(KHK):c.163G>A (p.Ala55Thr) rs973664792
NM_006488.3(KHK):c.163G>C (p.Ala55Pro)
NM_006488.3(KHK):c.178A>C (p.Met60Leu)
NM_006488.3(KHK):c.210-269T>G
NM_006488.3(KHK):c.383T>C (p.Val128Ala) rs761767044
NM_006488.3(KHK):c.431C>G (p.Ser144Trp) rs756258011
NM_006488.3(KHK):c.431C>T (p.Ser144Leu)
NM_006488.3(KHK):c.464C>G (p.Ala155Gly) rs933339831
NM_006488.3(KHK):c.556G>A (p.Gly186Arg)
NM_006488.3(KHK):c.59T>G (p.Val20Gly)
NM_006488.3(KHK):c.640C>T (p.Arg214Cys)
NM_006488.3(KHK):c.88A>T (p.Ile30Leu) rs2465617315

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