ClinVar Miner

List of variants in gene PHKA2 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: 7
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HGVS dbSNP
NM_000292.3(PHKA2):c.1398G>A (p.Ala466=) rs146631734
NM_000292.3(PHKA2):c.1989T>C (p.Tyr663=) rs770108234
NM_000292.3(PHKA2):c.2365C>T (p.Pro789Ser) rs138395800
NM_000292.3(PHKA2):c.3111+14G>T
NM_000292.3(PHKA2):c.3330C>T (p.Thr1110=) rs749097024
NM_000292.3(PHKA2):c.339C>T (p.His113=) rs142799459
NM_000292.3(PHKA2):c.3492G>T (p.Val1164=)

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