ClinVar Miner

List of variants studied for Hemolytic anemia due to glucophosphate isomerase deficiency by OMIM

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000175.5(GPI):c.671C>T (p.Thr224Met) rs61754634 0.00005
NM_000175.5(GPI):c.1028A>G (p.Gln343Arg) rs267606851 0.00002
NM_000175.5(GPI):c.14C>T (p.Thr5Ile) rs267606852 0.00001
NM_000175.5(GPI):c.1574T>C (p.Ile525Thr) rs137853584 0.00001
NM_000175.5(GPI):c.475G>A (p.Gly159Ser) rs137853582 0.00001
NM_000175.5(GPI):c.59A>C (p.His20Pro) rs137853586 0.00001
NM_000175.5(GPI):c.1016T>C (p.Leu339Pro) rs137853587
NM_000175.5(GPI):c.1040G>A (p.Arg347His) rs137853583
NM_000175.5(GPI):c.1124C>G (p.Thr375Arg) rs267606853
NM_000175.5(GPI):c.1615G>A (p.Asp539Asn) rs137853585

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