List of variants reported as pathogenic for Hemolytic anemia due to glucophosphate isomerase deficiency by Revvity Omics, Revvity

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000175.5(GPI):c.1336C>T (p.Arg446Ter)	rs774419705	0.00004
NM_000175.5(GPI):c.1040G>A (p.Arg347His)	rs137853583
NM_000175.5(GPI):c.1415G>A (p.Arg472His)
NM_000175.5(GPI):c.244del (p.Glu82fs)	rs769026153

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