List of variants in gene combination GLA, RPL36A-HNRNPH2 reported as likely 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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000169.3(GLA):c.619T>C (p.Tyr207His)	rs372416832	0.00005
NM_000169.3(GLA):c.124A>C (p.Met42Leu)	rs797044613	0.00001
NM_000169.3(GLA):c.868A>C (p.Met290Leu)	rs375538532	0.00001
NM_000169.3(GLA):c.1018T>C (p.Trp340Arg)	rs1555984869
NM_000169.3(GLA):c.1019_1020insA (p.Trp340Ter)	rs398123197
NM_000169.3(GLA):c.1085C>T (p.Pro362Leu)	rs730880441
NM_000169.3(GLA):c.1156C>T (p.Gln386Ter)	rs869312233
NM_000169.3(GLA):c.1241T>C (p.Leu414Ser)	rs869312246
NM_000169.3(GLA):c.224_228delinsCA (p.Leu75_Met76delinsPro)	rs2147480882
NM_000169.3(GLA):c.607G>A (p.Glu203Lys)	rs869312345
NM_000169.3(GLA):c.613C>G (p.Pro205Ala)
NM_000169.3(GLA):c.95T>C (p.Leu32Pro)	rs1569306168

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