List of variants in gene PHKA2 reported as pathogenic for Glycogen storage disease IXa2

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000292.3(PHKA2):c.557G>A (p.Arg186His)	rs137852290	0.00001
NM_000292.3(PHKA2):c.3327_3332dup (p.Arg1111_Glu1112insThrArg)	rs2147806786
NM_000292.3(PHKA2):c.3341C>T (p.Thr1114Ile)	rs137852293
NM_000292.3(PHKA2):c.394C>T (p.His132Tyr)	rs137852292
NM_000292.3(PHKA2):c.395A>C (p.His132Pro)	rs137852291
NM_000292.3(PHKA2):c.556C>T (p.Arg186Cys)	rs137852294
NM_000292.3(PHKA2):c.565A>G (p.Lys189Glu)	rs137852295
NM_000292.3(PHKA2):c.750_752del (p.Thr251del)	rs587776733

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