List of variants in gene AGK reported as pathogenic by GeneDx

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_018238.4(AGK):c.297+2T>C	rs765471424	0.00005
NM_018238.4(AGK):c.409C>T (p.Arg137Ter)	rs746709222	0.00001
NM_018238.4(AGK):c.841C>T (p.Arg281Ter)	rs387907025	0.00001
NM_018238.4(AGK):c.102-1G>T	rs886041835
NM_018238.4(AGK):c.1047-2A>T	rs886041491
NM_018238.4(AGK):c.3G>C (p.Met1Ile)	rs863223895
NM_018238.4(AGK):c.979A>T (p.Lys327Ter)	rs2117028700

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