ClinVar Miner

List of variants reported as uncertain significance for glycogen storage disease IXa1 by Revvity Omics, Revvity

Included ClinVar conditions (2):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000292.3(PHKA2):c.1975G>A (p.Glu659Lys)
NM_000292.3(PHKA2):c.488C>T (p.Ala163Val)
NM_000292.3(PHKA2):c.959T>C (p.Leu320Pro)
NM_000292.3(PHKA2):c.977G>A (p.Cys326Tyr)	rs1601758342

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