List of variants in gene combination GLA, RPL36A-HNRNPH2 reported by Blueprint Genetics

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000169.3(GLA):c.352C>T (p.Arg118Cys)	rs148158093	0.00040
NM_000169.3(GLA):c.427G>A (p.Ala143Thr)	rs104894845	0.00039
NM_000169.3(GLA):c.640-801G>A	rs199473684	0.00005
NM_000169.3(GLA):c.644A>G (p.Asn215Ser)	rs28935197	0.00001
NM_000169.3(GLA):c.679C>T (p.Arg227Ter)	rs104894841	0.00001
NM_000169.3(GLA):c.1229C>T (p.Thr410Ile)	rs730880442
NM_000169.3(GLA):c.640-814T>C	rs1603040008
NM_000169.3(GLA):c.692A>C (p.Asp231Ala)	rs1569303295
NM_000169.3(GLA):c.823del (p.Leu275fs)	rs869025435

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