List of variants in gene G6PD reported as pathogenic by Ambry Genetics

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_000402.4(G6PD):c.466A>G (p.Asn156Asp)	rs1050829	0.08672
NM_000402.4(G6PD):c.292G>A (p.Val98Met)	rs1050828	0.03616
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)	rs5030868	0.00028
NM_000402.4(G6PD):c.1478G>A (p.Arg493His)	rs72554664	0.00012
NM_000402.4(G6PD):c.961G>A (p.Val321Met)	rs137852327	0.00010
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)	rs5030869	0.00003
NM_001360016.2(G6PD):c.1088A>T (p.Asn363Ile)	rs1557229736

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