ClinVar Miner

List of variants in gene PHKG2 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: 10
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HGVS dbSNP
NM_000294.3(PHKG2):c.1137T>C (p.Pro379=) rs61731628
NM_000294.3(PHKG2):c.174A>T (p.Thr58=) rs56207641
NM_000294.3(PHKG2):c.256G>A (p.Gly86Ser) rs143983247
NM_000294.3(PHKG2):c.288C>T (p.Ser96=) rs56029513
NM_000294.3(PHKG2):c.324C>T (p.Asp108=) rs138416154
NM_000294.3(PHKG2):c.585G>A (p.Ala195=) rs187710792
NM_000294.3(PHKG2):c.921G>T (p.Arg307=) rs201113602
NM_000294.3(PHKG2):c.927+17C>G rs143558058
NM_000294.3(PHKG2):c.96-10G>T rs74015042
NM_001172432.1(PHKG2):c.-114T>C rs11863277

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