ClinVar Miner

List of variants in gene CGREF1, KHK studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP
NM_006488.3(KHK):c.*1008G>A
NM_006488.3(KHK):c.*1009T>G rs78413769
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.*20_*21AC[2] rs370253620
NM_006488.3(KHK):c.*214G>A
NM_006488.3(KHK):c.*259T>G
NM_006488.3(KHK):c.*27A>G rs189674797
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.*505G>A rs78939351
NM_006488.3(KHK):c.*52C>T rs747976594
NM_006488.3(KHK):c.*540G>C rs60769101
NM_006488.3(KHK):c.*554C>T
NM_006488.3(KHK):c.*580T>C rs7573066
NM_006488.3(KHK):c.*596C>T
NM_006488.3(KHK):c.*623G>A
NM_006488.3(KHK):c.*739G>C
NM_006488.3(KHK):c.*754T>C rs73921452
NM_006488.3(KHK):c.*767C>T rs1131375
NM_006488.3(KHK):c.*791G>A rs886055894
NM_006488.3(KHK):c.*79G>A rs75067630
NM_006488.3(KHK):c.*806G>A rs113859516
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.811+5G>C
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)
NM_006488.3(KHK):c.879C>A (p.Gly293=) rs116026105
NM_006488.3(KHK):c.885T>C (p.Asp295=)

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