ClinVar Miner

List of variants in gene combination CGREF1, KHK reported as uncertain significance for Fructosuria, essential

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Total variants: 27
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HGVS dbSNP
NM_006488.3(KHK):c.*11C>T
NM_006488.3(KHK):c.*159G>A rs886055892
NM_006488.3(KHK):c.*176G>A
NM_006488.3(KHK):c.*198A>C rs886055893
NM_006488.3(KHK):c.*200A>G rs751205514
NM_006488.3(KHK):c.*214G>A
NM_006488.3(KHK):c.*259T>G
NM_006488.3(KHK):c.*28T>C rs745543858
NM_006488.3(KHK):c.*326G>A rs148558475
NM_006488.3(KHK):c.*469G>A rs187387157
NM_006488.3(KHK):c.*49C>T rs776688675
NM_006488.3(KHK):c.*52C>T rs747976594
NM_006488.3(KHK):c.*596C>T
NM_006488.3(KHK):c.*739G>C
NM_006488.3(KHK):c.*791G>A rs886055894
NM_006488.3(KHK):c.*810A>C rs543665606
NM_006488.3(KHK):c.*896T>G
NM_006488.3(KHK):c.*954C>T
NM_006488.3(KHK):c.680AGG[1] (p.Glu228del) rs745546639
NM_006488.3(KHK):c.687C>T (p.Gly229=)
NM_006488.3(KHK):c.688G>A (p.Ala230Thr)
NM_006488.3(KHK):c.698T>G (p.Leu233Arg)
NM_006488.3(KHK):c.790G>A (p.Val264Ile) rs114353144
NM_006488.3(KHK):c.818G>A (p.Ser273Asn) rs575951862
NM_006488.3(KHK):c.820G>A (p.Val274Met) rs138164728
NM_006488.3(KHK):c.826G>A (p.Glu276Lys)
NM_006488.3(KHK):c.866G>A (p.Cys289Tyr)

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