ClinVar Miner

List of variants in gene GPI studied for carbohydrate metabolism disease

Included ClinVar conditions (302):
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Gene type:
ClinVar version:
Total variants: 74
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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 0.01510
NM_000175.5(GPI):c.623T>C (p.Ile208Thr) rs8191371 0.01437
NM_000175.5(GPI):c.907A>C (p.Met303Leu) rs143733383 0.00202
NM_001184722.1(GPI):c.7G>A (p.Ala3Thr) rs549433538 0.00139
NM_000175.5(GPI):c.987C>T (p.Asn329=) rs140676743 0.00123
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.1270-9G>A rs191051353 0.00018
NM_000175.5(GPI):c.1325C>T (p.Thr442Met) rs758328180 0.00006
NM_000175.5(GPI):c.671C>T (p.Thr224Met) rs61754634 0.00005
NM_000175.5(GPI):c.1039C>T (p.Arg347Cys) rs758132799 0.00004
NM_000175.5(GPI):c.1336C>T (p.Arg446Ter) rs774419705 0.00004
NM_000175.5(GPI):c.286C>T (p.Arg96Ter) rs781245249 0.00004
NM_000175.5(GPI):c.-9A>G rs552574934 0.00003
NM_000175.5(GPI):c.475G>A (p.Gly159Ser) rs137853582 0.00003
NM_000175.5(GPI):c.1028A>G (p.Gln343Arg) rs267606851 0.00002
NM_000175.5(GPI):c.1009G>A (p.Ala337Thr) rs1238884216 0.00001
NM_000175.5(GPI):c.1498G>A (p.Val500Ile) rs552424309 0.00001
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.1618G>A (p.Ala540Thr) rs547475819 0.00001
NM_000175.5(GPI):c.1648A>G (p.Lys550Glu) rs933668811 0.00001
NM_000175.5(GPI):c.301G>A (p.Val101Met) rs757341382 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.1022A>G (p.Tyr341Cys)
NM_000175.5(GPI):c.1040G>A (p.Arg347His) rs137853583
NM_000175.5(GPI):c.1063-13G>C
NM_000175.5(GPI):c.1081G>A (p.Gly361Arg)
NM_000175.5(GPI):c.1094C>T (p.Thr365Ile)
NM_000175.5(GPI):c.1124C>G (p.Thr375Arg) rs267606853
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.1238A>G (p.Gln413Arg)
NM_000175.5(GPI):c.1269+1G>A
NM_000175.5(GPI):c.1356G>C (p.Ala452=) rs34604585
NM_000175.5(GPI):c.1366C>G (p.Pro456Ala)
NM_000175.5(GPI):c.1414C>T (p.Arg472Cys) rs1364382189
NM_000175.5(GPI):c.1415G>A (p.Arg472His)
NM_000175.5(GPI):c.1498_1501del (p.Val500fs)
NM_000175.5(GPI):c.1594A>G (p.Ser532Gly)
NM_000175.5(GPI):c.1595G>C (p.Ser532Thr) rs139035514
NM_000175.5(GPI):c.1607C>T (p.Thr536Ile)
NM_000175.5(GPI):c.1614C>G (p.His538Gln) rs537943038
NM_000175.5(GPI):c.1615G>A (p.Asp539Asn) rs137853585
NM_000175.5(GPI):c.1640A>G (p.Asn547Ser)
NM_000175.5(GPI):c.16C>T (p.Arg6Trp)
NM_000175.5(GPI):c.190G>A (p.Val64Met)
NM_000175.5(GPI):c.241C>T (p.Arg81Trp)
NM_000175.5(GPI):c.244del (p.Glu82fs) rs769026153
NM_000175.5(GPI):c.287G>A (p.Arg96Gln)
NM_000175.5(GPI):c.413G>A (p.Ser138Asn)
NM_000175.5(GPI):c.418G>A (p.Asp140Asn)
NM_000175.5(GPI):c.487-14A>G
NM_000175.5(GPI):c.603C>G (p.Pro201=) rs1062480
NM_000175.5(GPI):c.637T>A (p.Phe213Ile) rs2145365520
NM_000175.5(GPI):c.695C>T (p.Ala232Val)
NM_000175.5(GPI):c.719C>T (p.Ala240Val)
NM_000175.5(GPI):c.751-5del rs375313737
NM_000175.5(GPI):c.751-5dup rs375313737
NM_000175.5(GPI):c.804+1_804+2del
NM_000175.5(GPI):c.805T>C (p.Trp269Arg)
NM_000175.5(GPI):c.812del (p.Gly271fs) rs2145419704
NM_000175.5(GPI):c.833C>T (p.Ser278Leu)
NM_000175.5(GPI):c.851T>C (p.Ile284Thr)
NM_000175.5(GPI):c.885G>T (p.Gln295His)
NM_000175.5(GPI):c.892T>G (p.Ser298Ala)
NM_000175.5(GPI):c.91G>C (p.Asp31His)
NM_000175.5(GPI):c.926C>T (p.Thr309Met)
NM_000175.5(GPI):c.937_952dup (p.Val318fs)

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