ClinVar Miner

List of variants in gene combination HMGCS2, PHGDH reported as likely benign for 3-phosphoglycerate dehydrogenase deficiency

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_006623.3(PHGDH):c.*200A>G rs17258425 0.11740
NM_005518.4(HMGCS2):c.*332A>C rs56828380 0.02618
NM_005518.4(HMGCS2):c.*165C>T rs138575225 0.01059

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