ClinVar Miner

List of variants in gene KHK reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NM_006488.3(KHK):c.-140G>A rs886055884
NM_006488.3(KHK):c.-15T>G rs763655731
NM_006488.3(KHK):c.-379T>A rs886055883
NM_006488.3(KHK):c.-97G>A rs886055885
NM_006488.3(KHK):c.101C>A (p.Ser34Tyr)
NM_006488.3(KHK):c.15G>A (p.Gln5=)
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.210-334C>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.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

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