ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_006488.3(KHK):c.*1008G>A
NM_006488.3(KHK):c.*1009T>G rs78413769
NM_006488.3(KHK):c.*505G>A rs78939351
NM_006488.3(KHK):c.*540G>C rs60769101
NM_006488.3(KHK):c.*554C>T
NM_006488.3(KHK):c.*580T>C rs7573066
NM_006488.3(KHK):c.*754T>C rs73921452
NM_006488.3(KHK):c.*767C>T rs1131375
NM_006488.3(KHK):c.*79G>A rs75067630
NM_006488.3(KHK):c.*806G>A rs113859516
NM_006488.3(KHK):c.811+5G>C
NM_006488.3(KHK):c.879C>A (p.Gly293=) rs116026105

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