ClinVar Miner

List of variants in gene KHK reported as benign for Fructosuria, essential

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Total variants: 8
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HGVS dbSNP
NM_006488.3(KHK):c.-245G>A rs192615638
NM_006488.3(KHK):c.-324C>T rs114973335
NM_006488.3(KHK):c.-444C>A rs116365550
NM_006488.3(KHK):c.-449T>G rs116028777
NM_006488.3(KHK):c.-469A>C rs6742004
NM_006488.3(KHK):c.145G>A (p.Val49Ile) rs2304681
NM_006488.3(KHK):c.159C>T (p.Leu53=) rs112920456
NM_006488.3(KHK):c.210-328A>G rs74537742

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