List of variants in gene PHKA2 reported by OMIM

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: 15

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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.2296C>T (p.Gln766Ter)	rs137852286
NM_000292.3(PHKA2):c.3025C>T (p.Gln1009Ter)	rs137852285
NM_000292.3(PHKA2):c.3146C>A (p.Ser1049Ter)	rs137852287
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.3614C>T (p.Pro1205Leu)	rs137852288
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.421_423del (p.Phe141del)	rs587776732
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.717+1G>T	rs587776731
NM_000292.3(PHKA2):c.750_752del (p.Thr251del)	rs587776733
NM_000292.3(PHKA2):c.896A>G (p.Asp299Gly)	rs137852289

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