ClinVar Miner

List of variants studied for Hemolytic anemia due to glucophosphate isomerase deficiency by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000175.5(GPI):c.489A>G (p.Gly163=) rs1801015 0.14862
NM_000175.5(GPI):c.762G>A (p.Lys254=) rs1864139 0.09803
NM_000175.5(GPI):c.122+20G>A rs8191360 0.02067
NM_000175.5(GPI):c.948C>A (p.Ala316=) rs8191416 0.01470
NM_000175.5(GPI):c.623T>C (p.Ile208Thr) rs8191371 0.01437
NM_000175.5(GPI):c.907A>C (p.Met303Leu) rs143733383 0.00185
NC_000019.10:g.34364916G>A rs549433538 0.00127
NM_000175.5(GPI):c.987C>T (p.Asn329=) rs140676743 0.00125
NM_000175.5(GPI):c.1366C>G (p.Pro456Ala) rs139853344 0.00036
NM_000175.5(GPI):c.317G>A (p.Arg106Gln) rs143827313 0.00029
NM_000175.5(GPI):c.1497C>T (p.Phe499=) rs138799755 0.00023
NM_000175.5(GPI):c.1063-13G>C rs202206681 0.00017
NM_000175.5(GPI):c.1270-9G>A rs191051353 0.00015
NM_000175.5(GPI):c.1325C>T (p.Thr442Met) rs758328180 0.00006
NM_000175.5(GPI):c.-9A>G rs552574934 0.00005
NM_000175.5(GPI):c.1039C>T (p.Arg347Cys) rs758132799 0.00004
NM_000175.5(GPI):c.286C>T (p.Arg96Ter) rs781245249 0.00004
NM_000175.5(GPI):c.1048G>A (p.Ala350Thr) rs750631078 0.00003
NM_000175.5(GPI):c.16C>T (p.Arg6Trp) rs761450928 0.00003
NM_000175.5(GPI):c.487-14A>G rs756884854 0.00002
NM_000175.5(GPI):c.1009G>A (p.Ala337Thr) rs1238884216 0.00001
NM_000175.5(GPI):c.241C>T (p.Arg81Trp) rs1249863293 0.00001
NM_000175.5(GPI):c.475G>A (p.Gly159Ser) rs137853582 0.00001
NM_000175.5(GPI):c.572A>G (p.His191Arg) rs758281551 0.00001
NM_000175.5(GPI):c.1040G>A (p.Arg347His) rs137853583
NM_000175.5(GPI):c.1143G>C (p.Gly381=) rs1214297048
NM_000175.5(GPI):c.1144G>T (p.Glu382Ter) rs2074944986
NM_000175.5(GPI):c.1182C>T (p.Leu394=)
NM_000175.5(GPI):c.1356G>A (p.Ala452=) rs34604585
NM_000175.5(GPI):c.1356G>C (p.Ala452=) rs34604585
NM_000175.5(GPI):c.403-13G>A
NM_000175.5(GPI):c.414C>T (p.Ser138=)
NM_000175.5(GPI):c.603C>G (p.Pro201=) rs1062480
NM_000175.5(GPI):c.633+11C>G
NM_000175.5(GPI):c.751-5del rs375313737
NM_000175.5(GPI):c.751-5dup rs375313737
NM_000175.5(GPI):c.894G>A (p.Ser298=)

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