ClinVar Miner

List of variants in gene PHKA2 studied for Glycogen phosphorylase kinase deficiency

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Gene type: Distinguish antisense genes from sense genes
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000292.3(PHKA2):c.2137+5G>A	rs372314504	0.00005
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly)	rs140014925	0.00005
NM_000292.3(PHKA2):c.2606C>G (p.Pro869Arg)	rs777137574	0.00001
NM_000292.3(PHKA2):c.3058-1G>A	rs751364453

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