ClinVar Miner

List of variants in gene combination CGREF1, KHK reported as likely benign for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_006488.3(KHK):c.*20_*21AC[2] rs370253620
NM_006488.3(KHK):c.*27A>G rs189674797
NM_006488.3(KHK):c.*623G>A
NM_006488.3(KHK):c.885T>C (p.Asp295=)

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