List of variants in gene PHKA2 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000292.3(PHKA2):c.3289G>A (p.Gly1097Ser)	rs145952475	0.00007
NM_000292.3(PHKA2):c.1325-2A>G	rs1569310542
NM_000292.3(PHKA2):c.1490G>A (p.Arg497Gln)	rs2048199652
NM_000292.3(PHKA2):c.1A>G (p.Met1Val)	rs2148058081
NM_000292.3(PHKA2):c.2395del (p.His799fs)	rs1555995689
NM_000292.3(PHKA2):c.505_509del (p.Val169fs)	rs2048628868
NM_000292.3(PHKA2):c.560G>A (p.Gly187Glu)	rs2147972073
NM_000292.3(PHKA2):c.898G>A (p.Gly300Ser)	rs2147958526

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