ClinVar Miner

List of variants in gene GPI reported as uncertain significance for Hemolytic anemia due to glucophosphate isomerase deficiency

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Total variants: 70
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HGVS dbSNP gnomAD frequency
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.1366C>G (p.Pro456Ala) rs139853344 0.00036
NM_000175.5(GPI):c.926C>T (p.Thr309Met) rs138381340 0.00036
NM_000175.5(GPI):c.317G>A (p.Arg106Gln) rs143827313 0.00029
NM_000175.5(GPI):c.1270-9G>A rs191051353 0.00015
NM_000175.5(GPI):c.1597G>T (p.Ala533Ser) rs149348999 0.00011
NM_000175.5(GPI):c.695C>T (p.Ala232Val) rs199742342 0.00007
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.1397A>C (p.Lys466Thr) rs146668588 0.00005
NM_000175.5(GPI):c.1498G>A (p.Val500Ile) rs552424309 0.00005
NM_000175.5(GPI):c.671C>T (p.Thr224Met) rs61754634 0.00004
NM_000175.5(GPI):c.851T>C (p.Ile284Thr) rs368458579 0.00004
NM_000175.5(GPI):c.1022A>G (p.Tyr341Cys) rs373311425 0.00003
NM_000175.5(GPI):c.1048G>A (p.Ala350Thr) rs750631078 0.00003
NM_000175.5(GPI):c.1109G>A (p.Arg370His) rs747466827 0.00003
NM_000175.5(GPI):c.1322C>T (p.Ser441Leu) rs201770056 0.00003
NM_000175.5(GPI):c.1594A>G (p.Ser532Gly) rs768287124 0.00003
NM_000175.5(GPI):c.1595G>C (p.Ser532Thr) rs139035514 0.00003
NM_000175.5(GPI):c.16C>T (p.Arg6Trp) rs761450928 0.00003
NM_000175.5(GPI):c.190G>A (p.Val64Met) rs775411168 0.00003
NM_000175.5(GPI):c.719C>T (p.Ala240Val) rs765378795 0.00003
NM_000175.5(GPI):c.404G>A (p.Arg135His) rs141002760 0.00002
NM_000175.5(GPI):c.1081G>A (p.Gly361Arg) rs940137788 0.00001
NM_000175.5(GPI):c.1618G>A (p.Ala540Thr) rs547475819 0.00001
NM_000175.5(GPI):c.1648A>G (p.Lys550Glu) rs933668811 0.00001
NM_000175.5(GPI):c.241C>T (p.Arg81Trp) rs1249863293 0.00001
NM_000175.5(GPI):c.247C>T (p.Arg83Trp) rs983725326 0.00001
NM_000175.5(GPI):c.413G>A (p.Ser138Asn) rs376016521 0.00001
NM_000175.5(GPI):c.418G>A (p.Asp140Asn) rs1447174024 0.00001
NM_000175.5(GPI):c.475G>A (p.Gly159Ser) rs137853582 0.00001
NM_000175.5(GPI):c.557A>G (p.Asn186Ser) rs765932960 0.00001
NM_000175.5(GPI):c.572A>G (p.His191Arg) rs758281551 0.00001
NM_000175.5(GPI):c.640A>G (p.Thr214Ala) rs536683131 0.00001
NM_000175.5(GPI):c.880G>A (p.Glu294Lys) rs560277140 0.00001
NM_000175.5(GPI):c.1094C>T (p.Thr365Ile) rs2074943794
NM_000175.5(GPI):c.1166A>G (p.His389Arg)
NM_000175.5(GPI):c.1199A>G (p.Lys400Arg)
NM_000175.5(GPI):c.121A>G (p.Ser41Gly)
NM_000175.5(GPI):c.1238A>G (p.Gln413Arg) rs2513870905
NM_000175.5(GPI):c.1313G>C (p.Arg438Thr)
NM_000175.5(GPI):c.1330G>A (p.Glu444Lys)
NM_000175.5(GPI):c.1337G>A (p.Arg446Gln)
NM_000175.5(GPI):c.1358G>T (p.Gly453Val)
NM_000175.5(GPI):c.1431T>G (p.Ile477Met) rs543065808
NM_000175.5(GPI):c.146G>C (p.Gly49Ala)
NM_000175.5(GPI):c.1484A>G (p.Glu495Gly)
NM_000175.5(GPI):c.1579C>G (p.Pro527Ala)
NM_000175.5(GPI):c.1614C>G (p.His538Gln) rs537943038
NM_000175.5(GPI):c.1632del (p.Leu545fs)
NM_000175.5(GPI):c.1640A>G (p.Asn547Ser) rs370893425
NM_000175.5(GPI):c.242G>A (p.Arg81Gln)
NM_000175.5(GPI):c.244G>C (p.Glu82Gln)
NM_000175.5(GPI):c.287G>A (p.Arg96Gln) rs1436713572
NM_000175.5(GPI):c.326C>T (p.Thr109Ile)
NM_000175.5(GPI):c.337G>A (p.Val113Ile)
NM_000175.5(GPI):c.527C>T (p.Ser176Leu)
NM_000175.5(GPI):c.539G>A (p.Arg180His)
NM_000175.5(GPI):c.634-3C>T
NM_000175.5(GPI):c.637T>A (p.Phe213Ile) rs2145365520
NM_000175.5(GPI):c.720G>T (p.Ala240=)
NM_000175.5(GPI):c.805T>C (p.Trp269Arg) rs2513860084
NM_000175.5(GPI):c.817C>T (p.Arg273Cys)
NM_000175.5(GPI):c.866-8T>C
NM_000175.5(GPI):c.885G>T (p.Gln295His) rs2074901638
NM_000175.5(GPI):c.892T>G (p.Ser298Ala) rs928767869
NM_000175.5(GPI):c.91G>C (p.Asp31His) rs1349915053
NM_000175.5(GPI):c.946G>A (p.Ala316Thr)
NM_000175.5(GPI):c.998G>A (p.Cys333Tyr)

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