ClinVar Miner

List of variants in gene CGREF1, KHK studied for essential fructosuria

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_006488.3(KHK):c.*767C>T rs1131375 0.32419
NM_006488.3(KHK):c.*580T>C rs7573066 0.03950
NM_006488.3(KHK):c.*754T>C rs73921452 0.02190
NM_006488.3(KHK):c.*806G>A rs113859516 0.02073
NM_006488.3(KHK):c.*79G>A rs75067630 0.01036
NM_006488.3(KHK):c.*1009T>G rs78413769 0.01034
NM_006488.3(KHK):c.*540G>C rs60769101 0.00934
NM_006488.3(KHK):c.879C>A (p.Gly293=) rs116026105 0.00740
NM_006488.3(KHK):c.*1008G>A rs114062151 0.00364
NM_006488.3(KHK):c.811+5G>C rs7578864 0.00289
NM_006488.3(KHK):c.*27A>G rs189674797 0.00278
NM_006488.3(KHK):c.*214G>A rs183949231 0.00184
NM_006488.3(KHK):c.*596C>T rs547856736 0.00155
NM_006488.3(KHK):c.*469G>A rs187387157 0.00154
NM_006488.3(KHK):c.790G>A (p.Val264Ile) rs114353144 0.00150
NM_006488.3(KHK):c.820G>A (p.Val274Met) rs138164728 0.00135
NM_006488.3(KHK):c.885T>C (p.Asp295=) rs144476131 0.00095
NM_006488.3(KHK):c.*505G>A rs78939351 0.00094
NM_006488.3(KHK):c.*259T>G rs766868467 0.00086
NM_006488.3(KHK):c.*623G>A rs192172107 0.00056
NM_006488.3(KHK):c.*326G>A rs148558475 0.00018
NM_006488.3(KHK):c.687C>T (p.Gly229=) rs142428157 0.00006
NM_006488.3(KHK):c.688G>A (p.Ala230Thr) rs745997707 0.00006
NM_006488.3(KHK):c.*554C>T rs558714226 0.00004
NM_006488.3(KHK):c.698T>G (p.Leu233Arg) rs768902999 0.00004
NM_006488.3(KHK):c.*200A>G rs751205514 0.00003
NM_006488.3(KHK):c.*28T>C rs745543858 0.00002
NM_006488.3(KHK):c.*49C>T rs776688675 0.00002
NM_006488.3(KHK):c.*954C>T rs1459521395 0.00002
NM_006488.3(KHK):c.*52C>T rs747976594 0.00001
NM_006488.3(KHK):c.*791G>A rs886055894 0.00001
NM_006488.3(KHK):c.*810A>C rs543665606 0.00001
NM_006488.3(KHK):c.*896T>G rs1276594858 0.00001
NM_006488.3(KHK):c.818G>A (p.Ser273Asn) rs575951862 0.00001
NM_006488.3(KHK):c.866G>A (p.Cys289Tyr) rs201037118 0.00001
NM_006488.3(KHK):c.*11C>T rs759689060
NM_006488.3(KHK):c.*159G>A rs886055892
NM_006488.3(KHK):c.*176G>A rs1558454561
NM_006488.3(KHK):c.*198A>C rs886055893
NM_006488.3(KHK):c.*20AC[2] rs370253620
NM_006488.3(KHK):c.*739G>C rs751242318
NM_006488.3(KHK):c.680AGG[1] (p.Glu228del) rs745546639
NM_006488.3(KHK):c.826G>A (p.Glu276Lys) rs761486852

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