List of variants in gene PHKG2 reported as benign for Glycogen storage disease IXc

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

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000294.3(PHKG2):c.271+38C>T	rs4889504	0.96355
NM_000294.3(PHKG2):c.96-10G>T	rs74015042	0.00340
NM_000294.3(PHKG2):c.256G>A (p.Gly86Ser)	rs143983247	0.00332
NM_000294.3(PHKG2):c.927+17C>G	rs143558058	0.00288
NM_000294.3(PHKG2):c.324C>T (p.Asp108=)	rs138416154	0.00252
NM_000294.3(PHKG2):c.1137T>C (p.Pro379=)	rs61731628	0.00240
NM_000294.3(PHKG2):c.288C>T (p.Ser96=)	rs56029513	0.00158
NM_000294.3(PHKG2):c.174A>T (p.Thr58=)	rs56207641	0.00059
NM_000294.3(PHKG2):c.585G>A (p.Ala195=)	rs187710792	0.00038
NM_000294.3(PHKG2):c.21G>A (p.Pro7=)	rs200427925	0.00032
NM_000294.3(PHKG2):c.921G>T (p.Arg307=)	rs201113602	0.00018
NM_000294.3(PHKG2):c.802-17C>T	rs772388120	0.00003
NM_000294.3(PHKG2):c.647+20del

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