ClinVar Miner

List of variants studied for Fructosuria, essential

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Total variants: 80
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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.-140G>A rs886055884
NM_006488.3(KHK):c.-15T>G rs763655731
NM_006488.3(KHK):c.-245G>A rs192615638
NM_006488.3(KHK):c.-324C>T rs114973335
NM_006488.3(KHK):c.-379T>A rs886055883
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.-97G>A rs886055885
NM_006488.3(KHK):c.101C>A (p.Ser34Tyr)
NM_006488.3(KHK):c.118G>A (p.Gly40Arg) rs104893643
NM_006488.3(KHK):c.127G>A (p.Ala43Thr) rs104893644
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.15G>A (p.Gln5=)
NM_006488.3(KHK):c.189G>A (p.Met63Ile)
NM_006488.3(KHK):c.19C>T (p.Leu7=)
NM_006488.3(KHK):c.210-199T>C
NM_006488.3(KHK):c.210-200A>G
NM_006488.3(KHK):c.210-211C>T rs141417422
NM_006488.3(KHK):c.210-245C>G rs202153228
NM_006488.3(KHK):c.210-253G>A
NM_006488.3(KHK):c.210-283C>T rs886055886
NM_006488.3(KHK):c.210-328A>G rs74537742
NM_006488.3(KHK):c.210-334C>T rs368871098
NM_006488.3(KHK):c.463G>A (p.Ala155Thr) rs776211460
NM_006488.3(KHK):c.470A>C (p.Asn157Thr)
NM_006488.3(KHK):c.473C>A (p.Thr158Asn) rs773003580
NM_006488.3(KHK):c.48C>T (p.Val16=)
NM_006488.3(KHK):c.499C>T (p.Arg167Trp) rs886055887
NM_006488.3(KHK):c.500G>A (p.Arg167Gln) rs201707861
NM_006488.3(KHK):c.507C>T (p.Ser169=)
NM_006488.3(KHK):c.527G>A (p.Arg176Gln) rs143669793
NM_006488.3(KHK):c.557G>A (p.Gly186Glu) rs886055888
NM_006488.3(KHK):c.562G>A (p.Val188Met)
NM_006488.3(KHK):c.643G>C (p.Val215Leu) rs886055889
NM_006488.3(KHK):c.653+5G>A
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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