List of variants in gene PHKA2 reported as likely benign for Glycogen storage disease IXa1

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: 94

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HGVS	dbSNP	gnomAD frequency
NM_000292.3(PHKA2):c.2077A>G (p.Ile693Val)	rs143732206	0.00657
NM_000292.3(PHKA2):c.2806+13C>A	rs186550641	0.00296
NM_000292.3(PHKA2):c.1398G>A (p.Ala466=)	rs146631734	0.00207
NM_000292.3(PHKA2):c.3243C>T (p.Pro1081=)	rs150764699	0.00076
NM_000292.3(PHKA2):c.2365C>T (p.Pro789Ser)	rs138395800	0.00068
NM_000292.3(PHKA2):c.1670C>G (p.Thr557Arg)	rs201183167	0.00038
NM_000292.3(PHKA2):c.3244G>A (p.Val1082Met)	rs142123423	0.00034
NM_000292.3(PHKA2):c.3615G>A (p.Pro1205=)	rs200550207	0.00023
NM_000292.3(PHKA2):c.339C>T (p.His113=)	rs142799459	0.00022
NM_000292.3(PHKA2):c.295G>A (p.Val99Met)	rs200281934	0.00020
NM_000292.3(PHKA2):c.2807-18C>T	rs373513953	0.00015
NM_000292.3(PHKA2):c.3038G>A (p.Arg1013Gln)	rs753106449	0.00013
NM_000292.3(PHKA2):c.1308T>G (p.Pro436=)	rs148492015	0.00012
NM_000292.3(PHKA2):c.1138-15T>G	rs199624054	0.00011
NM_000292.3(PHKA2):c.2670C>T (p.Leu890=)	rs143721284	0.00011
NM_000292.3(PHKA2):c.1978C>T (p.Leu660Phe)	rs773591957	0.00009
NM_000292.3(PHKA2):c.477C>T (p.Leu159=)	rs187396860	0.00009
NM_000292.3(PHKA2):c.3567G>A (p.Glu1189=)	rs773943898	0.00006
NM_000292.3(PHKA2):c.1989T>C (p.Tyr663=)	rs770108234	0.00005
NM_000292.3(PHKA2):c.2677-17G>A	rs755254108	0.00004
NM_000292.3(PHKA2):c.585G>A (p.Pro195=)	rs143424727	0.00004
NM_000292.3(PHKA2):c.285+12C>T	rs765795350	0.00003
NM_000292.3(PHKA2):c.718-19C>T	rs770389791	0.00003
NM_000292.3(PHKA2):c.1702C>T (p.Arg568Cys)	rs757043355	0.00002
NM_000292.3(PHKA2):c.3282+14C>T	rs760202357	0.00002
NM_000292.3(PHKA2):c.1245+9T>C	rs1462014190	0.00001
NM_000292.3(PHKA2):c.1460-5A>C	rs1409969328	0.00001
NM_000292.3(PHKA2):c.1793+8G>T	rs761684724	0.00001
NM_000292.3(PHKA2):c.1889A>G (p.Asn630Ser)	rs760621953	0.00001
NM_000292.3(PHKA2):c.2385C>G (p.Leu795=)	rs777278113	0.00001
NM_000292.3(PHKA2):c.2622A>G (p.Thr874=)	rs1249240827	0.00001
NM_000292.3(PHKA2):c.2868C>T (p.His956=)	rs779163512	0.00001
NM_000292.3(PHKA2):c.3189G>T (p.Arg1063=)	rs775954610	0.00001
NM_000292.3(PHKA2):c.3330C>T (p.Thr1110=)	rs749097024	0.00001
NM_000292.3(PHKA2):c.37G>A (p.Gly13Arg)	rs202065000	0.00001
NM_000292.3(PHKA2):c.1107G>T (p.Val369=)
NM_000292.3(PHKA2):c.1137+17G>A
NM_000292.3(PHKA2):c.1188G>A (p.Gly396=)
NM_000292.3(PHKA2):c.1215C>T (p.Ser405=)	rs368320508
NM_000292.3(PHKA2):c.1221C>T (p.Tyr407=)
NM_000292.3(PHKA2):c.1232C>T (p.Ser411Leu)
NM_000292.3(PHKA2):c.1324+11G>C
NM_000292.3(PHKA2):c.147C>T (p.Tyr49=)
NM_000292.3(PHKA2):c.1632G>A (p.Arg544=)	rs201710031
NM_000292.3(PHKA2):c.1653C>T (p.Cys551=)
NM_000292.3(PHKA2):c.18T>C (p.Asn6=)	rs954792469
NM_000292.3(PHKA2):c.1942C>T (p.Leu648=)
NM_000292.3(PHKA2):c.1964-15C>A
NM_000292.3(PHKA2):c.1980T>C (p.Leu660=)
NM_000292.3(PHKA2):c.216C>T (p.Ala72=)
NM_000292.3(PHKA2):c.2257G>A (p.Asp753Asn)
NM_000292.3(PHKA2):c.2360+12A>G
NM_000292.3(PHKA2):c.238-18T>G
NM_000292.3(PHKA2):c.2398G>A (p.Gly800Arg)
NM_000292.3(PHKA2):c.2445C>T (p.Gly815=)
NM_000292.3(PHKA2):c.2578C>T (p.Arg860Trp)
NM_000292.3(PHKA2):c.2598-14A>G
NM_000292.3(PHKA2):c.2613G>A (p.Glu871=)
NM_000292.3(PHKA2):c.2788C>T (p.Arg930Trp)
NM_000292.3(PHKA2):c.2802C>G (p.Cys934Trp)
NM_000292.3(PHKA2):c.2806+11C>T
NM_000292.3(PHKA2):c.2806+12G>A
NM_000292.3(PHKA2):c.2807-11T>C
NM_000292.3(PHKA2):c.286-15T>A
NM_000292.3(PHKA2):c.2895C>T (p.Gly965=)
NM_000292.3(PHKA2):c.2955C>T (p.His985=)
NM_000292.3(PHKA2):c.3027+10C>T
NM_000292.3(PHKA2):c.3027+8C>A
NM_000292.3(PHKA2):c.3111+14G>A	rs759056537
NM_000292.3(PHKA2):c.3111+14G>T	rs759056537
NM_000292.3(PHKA2):c.3158C>T (p.Ser1053Leu)
NM_000292.3(PHKA2):c.3159G>A (p.Ser1053=)
NM_000292.3(PHKA2):c.3174C>T (p.Ile1058=)
NM_000292.3(PHKA2):c.3282+15G>A
NM_000292.3(PHKA2):c.3282+8G>A
NM_000292.3(PHKA2):c.3336+10G>T
NM_000292.3(PHKA2):c.3336+16C>T
NM_000292.3(PHKA2):c.3336+20G>T
NM_000292.3(PHKA2):c.3337-6T>C
NM_000292.3(PHKA2):c.3357G>A (p.Lys1119=)
NM_000292.3(PHKA2):c.3474C>T (p.Ile1158=)
NM_000292.3(PHKA2):c.3492G>A (p.Val1164=)
NM_000292.3(PHKA2):c.3492G>T (p.Val1164=)	rs754254758
NM_000292.3(PHKA2):c.3507G>A (p.Gln1169=)
NM_000292.3(PHKA2):c.354C>T (p.Thr118=)
NM_000292.3(PHKA2):c.3615G>C (p.Pro1205=)
NM_000292.3(PHKA2):c.3624T>G (p.Ala1208=)
NM_000292.3(PHKA2):c.3638C>G (p.Thr1213Ser)
NM_000292.3(PHKA2):c.3665A>C (p.Tyr1222Ser)
NM_000292.3(PHKA2):c.3690G>C (p.Ser1230=)	rs369001472
NM_000292.3(PHKA2):c.454+10G>A
NM_000292.3(PHKA2):c.454+9G>C
NM_000292.3(PHKA2):c.84C>T (p.Pro28=)
NM_000292.3(PHKA2):c.858G>A (p.Lys286=)

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