List of variants studied for essential fructosuria

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		ClinVar version:

Total variants: 81

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HGVS	dbSNP	gnomAD frequency
NM_006488.3(KHK):c.-469A>C	rs6742004	0.50895
NM_006488.3(KHK):c.145G>A (p.Val49Ile)	rs2304681	0.36761
NM_006488.3(KHK):c.*767C>T	rs1131375	0.32419
NM_006488.3(KHK):c.-449T>G	rs116028777	0.06231
NM_006488.3(KHK):c.-444C>A	rs116365550	0.06226
NM_006488.3(KHK):c.210-328A>G	rs74537742	0.06212
NM_006488.3(KHK):c.*580T>C	rs7573066	0.03950
NM_006488.3(KHK):c.-324C>T	rs114973335	0.03642
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.-245G>A	rs192615638	0.00724
NM_006488.3(KHK):c.159C>T (p.Leu53=)	rs112920456	0.00463
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.527G>A (p.Arg176Gln)	rs143669793	0.00227
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.189G>A (p.Met63Ile)	rs142663158	0.00108
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.562G>A (p.Val188Met)	rs41288797	0.00068
NM_006488.3(KHK):c.*623G>A	rs192172107	0.00056
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.127G>A (p.Ala43Thr)	rs104893644	0.00010
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.118G>A (p.Gly40Arg)	rs104893643	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.*554C>T	rs558714226	0.00004
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.*20AC[2]	rs370253620
NM_006488.3(KHK):c.*739G>C	rs751242318
NM_006488.3(KHK):c.-140G>A	rs886055884
NM_006488.3(KHK):c.112C>T (p.Gln38Ter)
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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