ClinVar Miner

List of variants in gene PHKA2 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: 21
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HGVS dbSNP
NM_000292.3(PHKA2):c.112G>C (p.Glu38Gln) rs17313469
NM_000292.3(PHKA2):c.1246-12C>T rs759418361
NM_000292.3(PHKA2):c.1246G>A (p.Gly416Arg) rs16980929
NM_000292.3(PHKA2):c.1398G>A (p.Ala466=) rs146631734
NM_000292.3(PHKA2):c.1670C>G (p.Thr557Arg) rs201183167
NM_000292.3(PHKA2):c.1896C>T (p.Ser632=) rs139852230
NM_000292.3(PHKA2):c.1952C>A (p.Thr651Asn) rs149991825
NM_000292.3(PHKA2):c.1964-7A>G rs376658808
NM_000292.3(PHKA2):c.2077A>G (p.Ile693Val) rs143732206
NM_000292.3(PHKA2):c.2436G>A (p.Gly812=) rs61733281
NM_000292.3(PHKA2):c.2532G>A (p.Leu844=) rs61729452
NM_000292.3(PHKA2):c.3069G>A (p.Val1023=) rs748792637
NM_000292.3(PHKA2):c.3187C>A (p.Arg1063=) rs139136352
NM_000292.3(PHKA2):c.3243C>T (p.Pro1081=) rs150764699
NM_000292.3(PHKA2):c.3282+13G>A rs200925279
NM_000292.3(PHKA2):c.3705A>G (p.Gln1235=) rs112249974
NM_000292.3(PHKA2):c.472A>G (p.Thr158Ala) rs142034171
NM_000292.3(PHKA2):c.718-3C>T rs140662042
NM_000292.3(PHKA2):c.742A>C (p.Arg248=) rs149219369
NM_000292.3(PHKA2):c.849T>A (p.Ile283=) rs61733284
NM_000292.3(PHKA2):c.963C>T (p.Phe321=) rs35010660

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