List of variants in gene BPGM studied for familial hemolytic anemia

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_001724.5(BPGM):c.185G>A (p.Arg62Gln)	rs751972865	0.00001
NM_001724.5(BPGM):c.268C>T (p.Arg90Cys)	rs121964925	0.00001
NM_001724.5(BPGM):c.269G>A (p.Arg90His)	rs781222092	0.00001
NM_001724.5(BPGM):c.461G>A (p.Arg154Gln)
NM_001724.5(BPGM):c.61del (p.Arg21fs)	rs786205092
NM_001724.5(BPGM):c.62G>A (p.Arg21His)
NM_001724.5(BPGM):c.679C>T (p.Arg227Cys)

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