List of variants in gene KHK reported as uncertain significance for essential fructosuria

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_006488.3(KHK):c.507C>T (p.Ser169=)	rs148222785	0.00111
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.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.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.-15T>G	rs763655731	0.00002
NM_006488.3(KHK):c.210-283C>T	rs886055886	0.00002
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.-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

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