ClinVar Miner

List of variants in gene KHK reported as pathogenic by OMIM

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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_006488.3(KHK):c.118G>A (p.Gly40Arg)	rs104893643	0.00024
NM_006488.3(KHK):c.127G>A (p.Ala43Thr)	rs104893644	0.00006

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