ClinVar Miner

List of variants reported as benign for Glycogen phosphorylase kinase deficiency

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000293.3(PHKB):c.3144+34dup rs5816579
NM_002637.4(PHKA1):c.*1241GT[13] rs111688568
NM_002637.4(PHKA1):c.*625CT[2] rs3070316

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