ClinVar Miner

List of variants studied for anemia due to erythrocyte enzyme disorder by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 102
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HGVS dbSNP gnomAD frequency
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716 0.28514
NM_001166686.2(PFKM):c.5A>T (p.His2Leu) rs11609399 0.21767
NM_000289.6(PFKM):c.516C>T (p.Thr172=) rs1049392 0.18973
NM_000289.6(PFKM):c.2093-14A>G rs11168427 0.16418
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500 0.16379
NM_000175.5(GPI):c.489A>G (p.Gly163=) rs1801015 0.14862
NM_001365304.2(LOC112694756):c.*1508+17G>T rs2071390 0.13976
NM_001159287.1(TPI1):c.69A>G (p.Arg23=) rs1800200 0.09809
NM_000175.5(GPI):c.762G>A (p.Lys254=) rs1864139 0.09803
NM_000289.6(PFKM):c.246G>A (p.Thr82=) rs2228501 0.06196
NM_001159287.1(TPI1):c.66G>A (p.Pro22=) rs1800201 0.03488
NM_000365.6(TPI1):c.544-10C>G rs115061797 0.02638
NM_000365.6(TPI1):c.631+13G>A rs60115912 0.02344
NM_000175.5(GPI):c.122+20G>A rs8191360 0.02067
NM_000289.6(PFKM):c.1500+32C>T rs41291967 0.02028
NM_000289.6(PFKM):c.1342-14G>T rs56117548 0.01990
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507 0.01954
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_000365.6(TPI1):c.544-14G>A rs72661109 0.01198
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971 0.01088
NM_001243177.4(ALDOA):c.1200C>T (p.Ser400=) rs77290575 0.01088
NM_001365304.2(LOC112694756):c.*889-16C>A rs78124282 0.00797
NM_000365.6(TPI1):c.600G>A (p.Ala200=) rs61747602 0.00452
NM_001243177.4(ALDOA):c.411A>G (p.Thr137=) rs76767223 0.00362
NM_001159287.1(TPI1):c.50T>G (p.Ile17Arg) rs1800202 0.00329
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser) rs138824667 0.00256
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513 0.00243
NM_000289.6(PFKM):c.1339C>A (p.Gln447Lys) rs145040928 0.00243
NM_000289.6(PFKM):c.2199-12A>G rs202008060 0.00204
NM_001365304.2(LOC112694756):c.*621+4C>T rs200278984 0.00204
NM_000175.5(GPI):c.907A>C (p.Met303Leu) rs143733383 0.00202
NM_001159287.1(TPI1):c.31C>T (p.His11Tyr) rs781949460 0.00200
NM_000289.6(PFKM):c.702A>T (p.Pro234=) rs138022863 0.00185
NM_000289.6(PFKM):c.1500+29C>T rs138256599 0.00183
NM_001184722.1(GPI):c.7G>A (p.Ala3Thr) rs549433538 0.00139
NM_001243177.4(ALDOA):c.648C>G (p.Leu216=) rs112110009 0.00124
NM_000175.5(GPI):c.987C>T (p.Asn329=) rs140676743 0.00123
NM_000365.6(TPI1):c.321T>C (p.Asp107=) rs141972556 0.00104
NM_000365.6(TPI1):c.366C>T (p.Leu122=) rs138131191 0.00081
NM_000365.6(TPI1):c.448G>T (p.Val150Phe) rs150585849 0.00067
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_001243177.4(ALDOA):c.973C>T (p.Leu325=) rs111252736 0.00022
NM_000289.6(PFKM):c.459C>T (p.Ser153=) rs145519821 0.00021
NM_000289.6(PFKM):c.52A>G (p.Ile18Val) rs150405056 0.00020
NM_000365.6(TPI1):c.116-12T>C rs369077745 0.00019
NM_000175.5(GPI):c.1270-9G>A rs191051353 0.00018
NM_000289.6(PFKM):c.139C>T (p.Arg47Cys) rs774921979 0.00012
NM_000289.6(PFKM):c.1925A>G (p.Asn642Ser) rs141550921 0.00011
NM_000365.6(TPI1):c.-11G>A rs199634350 0.00010
NM_000289.6(PFKM):c.1501-15C>T rs756212415 0.00008
NM_000175.5(GPI):c.1325C>T (p.Thr442Met) rs758328180 0.00006
NM_000289.6(PFKM):c.237+1G>A rs202143236 0.00006
NM_000289.6(PFKM):c.857G>A (p.Arg286His) rs768496070 0.00006
NM_000289.6(PFKM):c.1212T>C (p.Ala404=) rs1203272613 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_000289.6(PFKM):c.1063-18G>A rs531023136 0.00004
NM_000365.6(TPI1):c.690C>T (p.Phe230=) rs782267337 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_000365.6(TPI1):c.543+5C>G rs782153322 0.00002
NM_000175.5(GPI):c.1009G>A (p.Ala337Thr) rs1238884216 0.00001
NM_000175.5(GPI):c.572A>G (p.His191Arg) rs758281551 0.00001
NM_000289.6(PFKM):c.2126G>A (p.Cys709Tyr) rs373055147 0.00001
NM_000289.6(PFKM):c.888G>A (p.Leu296=) rs753083173 0.00001
NM_001243177.4(ALDOA):c.322G>A (p.Glu108Lys) rs199852002 0.00001
NM_001354741.2(PFKM):c.-81+1955A>G rs755094329 0.00001
NM_000175.5(GPI):c.1040G>A (p.Arg347His) rs137853583
NM_000175.5(GPI):c.1063-13G>C
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.1356G>C (p.Ala452=) rs34604585
NM_000175.5(GPI):c.1366C>G (p.Pro456Ala)
NM_000175.5(GPI):c.16C>T (p.Arg6Trp)
NM_000175.5(GPI):c.241C>T (p.Arg81Trp)
NM_000175.5(GPI):c.487-14A>G
NM_000175.5(GPI):c.603C>G (p.Pro201=) rs1062480
NM_000175.5(GPI):c.751-5del rs375313737
NM_000175.5(GPI):c.751-5dup rs375313737
NM_000289.6(PFKM):c.1043T>C (p.Leu348Pro) rs1203659685
NM_000289.6(PFKM):c.1063-6C>A rs371033104
NM_000289.6(PFKM):c.1295G>A (p.Arg432Gln) rs374824469
NM_000289.6(PFKM):c.1338_1339delinsAA (p.Gln447Lys) rs1555206566
NM_000289.6(PFKM):c.1413-58C>A rs78496902
NM_000289.6(PFKM):c.150T>C (p.Phe50=)
NM_000289.6(PFKM):c.1771G>A (p.Asp591Asn)
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000289.6(PFKM):c.2219A>G (p.Gln740Arg) rs1950977797
NM_000289.6(PFKM):c.550C>T (p.Arg184Trp)
NM_000365.6(TPI1):c.-29C>G rs181882616
NM_000365.6(TPI1):c.383T>C (p.Ile128Thr) rs199881593
NM_000365.6(TPI1):c.457+7C>G
NM_001243177.4(ALDOA):c.1141G>A (p.Glu381Lys)
NM_001243177.4(ALDOA):c.684T>C (p.Tyr228=) rs1596813728
NM_001243177.4(ALDOA):c.925A>G (p.Thr309Ala)
NM_001243177.4(ALDOA):c.966C>T (p.Ile322=)
NM_001354741.2(PFKM):c.-81+1966C>T
NM_001365304.2(LOC112694756):c.*1509-16C>T
NM_001365304.2(LOC112694756):c.*833+17C>G rs78209292
NM_001724.5(BPGM):c.62G>A (p.Arg21His)

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