List of variants in gene PHKA2 reported by Mendelics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000292.3(PHKA2):c.1493C>T (p.Pro498Leu)	rs199792389	0.00011
NM_000292.3(PHKA2):c.3289G>A (p.Gly1097Ser)	rs145952475	0.00007
NM_000292.3(PHKA2):c.1499G>A (p.Arg500Gln)	rs753412659	0.00001
NM_000292.3(PHKA2):c.1138-2A>G	rs1601748216
NM_000292.3(PHKA2):c.1210C>T (p.Gln404Ter)	rs2147934341
NM_000292.3(PHKA2):c.1324+1G>A	rs1289077489
NM_000292.3(PHKA2):c.133C>T (p.Arg45Trp)	rs1601781031
NM_000292.3(PHKA2):c.1541G>A (p.Arg514Lys)	rs2048198507
NM_000292.3(PHKA2):c.2735T>C (p.Met912Thr)	rs1158193880
NM_000292.3(PHKA2):c.2785G>C (p.Ala929Pro)	rs1324893950
NM_000292.3(PHKA2):c.314_317del (p.Thr105fs)	rs1601776523
NM_000292.3(PHKA2):c.3383T>C (p.Leu1128Pro)	rs797044921
NM_000292.3(PHKA2):c.3397C>T (p.Gln1133Ter)	rs1601687244
NM_000292.3(PHKA2):c.395A>C (p.His132Pro)	rs137852291
NM_000292.3(PHKA2):c.557G>C (p.Arg186Pro)	rs137852290
NM_000292.3(PHKA2):c.883C>T (p.Arg295Cys)	rs797045008
NM_000292.3(PHKA2):c.884G>T (p.Arg295Leu)	rs797044877
NM_000292.3(PHKA2):c.919-1G>A	rs2147954328

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