ClinVar Miner

List of variants reported as uncertain significance for essential fructosuria by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
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.507C>T (p.Ser169=) rs148222785 0.00111
NM_006488.3(KHK):c.*259T>G rs766868467 0.00086
NM_006488.3(KHK):c.562G>A (p.Val188Met) rs41288797 0.00068
NM_006488.3(KHK):c.210-211C>T rs141417422 0.00020
NM_006488.3(KHK):c.*326G>A rs148558475 0.00018
NM_006488.3(KHK):c.48C>T (p.Val16=) rs200769127 0.00017
NM_006488.3(KHK):c.470A>C (p.Asn157Thr) rs150233686 0.00010
NM_006488.3(KHK):c.-97G>A rs886055885 0.00006
NM_006488.3(KHK):c.210-199T>C rs201650300 0.00006
NM_006488.3(KHK):c.210-334C>T rs368871098 0.00006
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.19C>T (p.Leu7=) rs750201072 0.00005
NM_006488.3(KHK):c.-379T>A rs886055883 0.00004
NM_006488.3(KHK):c.210-253G>A rs780961189 0.00004
NM_006488.3(KHK):c.473C>A (p.Thr158Asn) rs773003580 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.-15T>G rs763655731 0.00002
NM_006488.3(KHK):c.210-283C>T rs886055886 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.101C>A (p.Ser34Tyr) rs746381366 0.00001
NM_006488.3(KHK):c.210-200A>G rs1482514899 0.00001
NM_006488.3(KHK):c.463G>A (p.Ala155Thr) rs776211460 0.00001
NM_006488.3(KHK):c.499C>T (p.Arg167Trp) rs886055887 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.*739G>C rs751242318
NM_006488.3(KHK):c.-140G>A rs886055884
NM_006488.3(KHK):c.15G>A (p.Gln5=) rs1669712582
NM_006488.3(KHK):c.210-245C>G rs202153228
NM_006488.3(KHK):c.500G>A (p.Arg167Gln) rs201707861
NM_006488.3(KHK):c.557G>A (p.Gly186Glu) rs886055888
NM_006488.3(KHK):c.643G>C (p.Val215Leu) rs886055889
NM_006488.3(KHK):c.653+5G>A rs1670622215
NM_006488.3(KHK):c.680AGG[1] (p.Glu228del) rs745546639
NM_006488.3(KHK):c.826G>A (p.Glu276Lys) rs761486852

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