ClinVar Miner

List of variants studied for familial hemolytic anemia by Revvity Omics, Revvity

Included ClinVar conditions (77):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 591
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693 0.00154
NM_000365.6(TPI1):c.463G>A (p.Val155Met) rs188138723 0.00118
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His) rs34193178 0.00110
NM_000289.6(PFKM):c.41T>C (p.Ile14Thr) rs140473672 0.00078
NM_000365.6(TPI1):c.448G>T (p.Val150Phe) rs150585849 0.00067
NM_000037.4(ANK1):c.1483A>C (p.Asn495His) rs143839208 0.00057
NM_138477.4(CDAN1):c.3188C>T (p.Thr1063Met) rs143857276 0.00048
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu) rs72554665 0.00046
NM_001114134.2(EPB42):c.581G>A (p.Arg194His) rs146348439 0.00044
NM_001114134.2(EPB42):c.953G>T (p.Gly318Val) rs143974871 0.00044
NM_001114134.2(EPB42):c.2032A>G (p.Asn678Asp) rs201674874 0.00042
NM_000037.4(ANK1):c.4156T>C (p.Tyr1386His) rs201439151 0.00041
NM_000637.5(GSR):c.697C>T (p.Arg233Cys) rs145851500 0.00037
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_001243177.4(ALDOA):c.679C>T (p.Arg227Cys) rs374042346 0.00025
NM_001114134.2(EPB42):c.10+91G>A rs150530456 0.00024
NM_001114134.2(EPB42):c.1487C>T (p.Thr496Met) rs199787216 0.00024
NM_138477.4(CDAN1):c.3524G>A (p.Cys1175Tyr) rs192268080 0.00024
NM_000037.4(ANK1):c.3298G>A (p.Val1100Ile) rs147741842 0.00023
NM_001114134.2(EPB42):c.556G>C (p.Gly186Arg) rs199634098 0.00023
NM_000037.4(ANK1):c.3229G>C (p.Gly1077Arg) rs200263785 0.00022
NM_000375.3(UROS):c.217T>C (p.Cys73Arg) rs121908012 0.00022
NM_000037.4(ANK1):c.499G>C (p.Gly167Arg) rs201024919 0.00021
NM_000289.6(PFKM):c.820A>G (p.Ile274Val) rs142868881 0.00021
NM_001243177.4(ALDOA):c.668A>G (p.Asn223Ser) rs142957871 0.00019
NM_001243177.4(ALDOA):c.898C>T (p.His300Tyr) rs144693278 0.00016
NM_000037.4(ANK1):c.5614C>T (p.Arg1872Trp) rs145235970 0.00014
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) rs398123546 0.00014
NM_001243177.4(ALDOA):c.922G>A (p.Val308Ile) rs142759891 0.00013
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu) rs120074167 0.00013
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) rs72554664 0.00012
NM_138477.4(CDAN1):c.1822C>T (p.Pro608Ser) rs146810840 0.00012
NM_000289.6(PFKM):c.1925A>G (p.Asn642Ser) rs141550921 0.00011
NM_001002010.5(NT5C3A):c.406A>G (p.Thr136Ala) rs141651499 0.00011
NM_138477.4(CDAN1):c.29G>A (p.Arg10Gln) rs910234195 0.00011
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_138477.4(CDAN1):c.2197A>C (p.Ser733Arg) rs150491625 0.00010
NM_000037.4(ANK1):c.3652C>T (p.Arg1218Trp) rs142542271 0.00009
NM_001114134.2(EPB42):c.859C>T (p.Arg287Cys) rs515726212 0.00009
NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu) rs80338694 0.00009
NM_000402.4(G6PD):c.185A>G (p.His62Arg) rs137852340 0.00008
NM_000637.5(GSR):c.878C>G (p.Ser293Cys) rs762024253 0.00008
NM_001114134.2(EPB42):c.1124C>T (p.Thr375Met) rs115972761 0.00008
NM_001114134.2(EPB42):c.353C>T (p.Ser118Leu) rs200509497 0.00007
NM_001114134.2(EPB42):c.620A>G (p.Gln207Arg) rs758323919 0.00007
NM_001243177.4(ALDOA):c.223C>T (p.His75Tyr) rs766734350 0.00007
NM_001367805.3(KIF23):c.2246C>T (p.Thr749Met) rs535792693 0.00007
NM_138477.4(CDAN1):c.2984G>A (p.Arg995His) rs369919247 0.00007
NM_000037.4(ANK1):c.4105-5T>G rs768183148 0.00006
NM_000175.5(GPI):c.1325C>T (p.Thr442Met) rs758328180 0.00006
NM_000289.6(PFKM):c.1060G>A (p.Val354Met) rs930337550 0.00006
NM_000289.6(PFKM):c.237+1G>A rs202143236 0.00006
NM_001114134.2(EPB42):c.1007G>A (p.Arg336Gln) rs374503872 0.00006
NM_138477.4(CDAN1):c.1964C>T (p.Pro655Leu) rs368192130 0.00006
NM_000175.5(GPI):c.671C>T (p.Thr224Met) rs61754634 0.00005
NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu) rs80338699 0.00005
NM_000037.4(ANK1):c.4472G>A (p.Arg1491His) rs372878614 0.00004
NM_000037.4(ANK1):c.5600C>T (p.Ala1867Val) rs767580738 0.00004
NM_000037.4(ANK1):c.563C>T (p.Thr188Met) rs146346710 0.00004
NM_000175.5(GPI):c.1336C>T (p.Arg446Ter) rs774419705 0.00004
NM_000375.3(UROS):c.683C>T (p.Thr228Met) rs121908014 0.00004
NM_000637.5(GSR):c.859G>A (p.Val287Met) rs750862066 0.00004
NM_001114134.2(EPB42):c.712G>C (p.Glu238Gln) rs886051168 0.00004
NM_138477.4(CDAN1):c.3217C>T (p.Pro1073Ser) rs776881666 0.00004
NM_138477.4(CDAN1):c.3383C>T (p.Pro1128Leu) rs752497862 0.00004
NM_000037.4(ANK1):c.1415C>T (p.Thr472Ile) rs150655828 0.00003
NM_000365.6(TPI1):c.730A>G (p.Ile244Val) rs143000041 0.00003
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869 0.00003
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342 0.00003
NM_000637.5(GSR):c.242G>A (p.Arg81His) rs767823911 0.00003
NM_001243177.4(ALDOA):c.1129G>T (p.Ala377Ser) rs148828956 0.00003
NM_000037.4(ANK1):c.1178C>T (p.Thr393Met) rs563833117 0.00002
NM_000037.4(ANK1):c.5119G>A (p.Gly1707Ser) rs746486928 0.00002
NM_000289.6(PFKM):c.140G>A (p.Arg47His) rs748718049 0.00002
NM_000402.4(G6PD):c.298T>C (p.Tyr100His) rs137852349 0.00002
NM_001243177.4(ALDOA):c.475G>T (p.Val159Leu) rs570385246 0.00002
NM_001360016.2(G6PD):c.209A>G (p.Tyr70Cys) rs782090947 0.00002
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys) rs979416826 0.00002
NM_138477.4(CDAN1):c.2800C>T (p.Arg934Trp) rs751799284 0.00002
NM_138477.4(CDAN1):c.3019C>T (p.Arg1007Trp) rs142276684 0.00002
NM_138477.4(CDAN1):c.845G>A (p.Arg282Gln) rs777323929 0.00002
NM_000037.4(ANK1):c.1265A>T (p.Asn422Ile) rs768063027 0.00001
NM_000037.4(ANK1):c.4153C>T (p.Arg1385Ter) rs750820522 0.00001
NM_000037.4(ANK1):c.4462C>T (p.Arg1488Ter) rs777701149 0.00001
NM_000175.5(GPI):c.1498G>A (p.Val500Ile) rs552424309 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_000289.6(PFKM):c.1500+1G>A rs770066278 0.00001
NM_000365.6(TPI1):c.569G>A (p.Arg190Gln) rs1565538350 0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_001114134.2(EPB42):c.1501del (p.Ser501fs) rs777764528 0.00001
NM_001114134.2(EPB42):c.308C>A (p.Thr103Asn) rs1374938976 0.00001
NM_001114134.2(EPB42):c.830C>T (p.Thr277Ile) rs515726211 0.00001
NM_001243177.4(ALDOA):c.937C>T (p.Arg313Cys) rs779421883 0.00001
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro) rs78365220 0.00001
NM_001376013.1(EPB41):c.1505C>T (p.Ala502Val) rs745905322 0.00001
NM_138477.4(CDAN1):c.1273C>G (p.Pro425Ala) rs191247450 0.00001
NM_138477.4(CDAN1):c.2576C>T (p.Pro859Leu) rs370476233 0.00001
G6PD NARA rs587776730
NM_000037.4(ANK1):c.1028A>C (p.His343Pro)
NM_000037.4(ANK1):c.1124del (p.Leu375fs)
NM_000037.4(ANK1):c.1150G>A (p.Val384Ile)
NM_000037.4(ANK1):c.1187C>T (p.Ser396Leu)
NM_000037.4(ANK1):c.1277G>A (p.Arg426Gln) rs776721065
NM_000037.4(ANK1):c.1282dup (p.Ala428fs)
NM_000037.4(ANK1):c.1303G>A (p.Val435Met)
NM_000037.4(ANK1):c.1351G>A (p.Glu451Lys)
NM_000037.4(ANK1):c.1381_1382del (p.Ala461fs)
NM_000037.4(ANK1):c.1405-9G>A
NM_000037.4(ANK1):c.1435C>T (p.Arg479Cys)
NM_000037.4(ANK1):c.1438A>G (p.Ile480Val)
NM_000037.4(ANK1):c.1452del (p.Asn484fs) rs2150635459
NM_000037.4(ANK1):c.1488dup (p.Asn497fs)
NM_000037.4(ANK1):c.1519del (p.Leu507fs)
NM_000037.4(ANK1):c.1519dup (p.Leu507fs) rs397514029
NM_000037.4(ANK1):c.1537G>T (p.Glu513Ter)
NM_000037.4(ANK1):c.1540G>T (p.Gly514Cys)
NM_000037.4(ANK1):c.1585C>T (p.Gln529Ter)
NM_000037.4(ANK1):c.1675del (p.Asp559fs)
NM_000037.4(ANK1):c.1702-2A>G rs1554567249
NM_000037.4(ANK1):c.1709del (p.Leu570fs)
NM_000037.4(ANK1):c.1717del (p.Leu573fs) rs1826989524
NM_000037.4(ANK1):c.1717dup (p.Leu573fs)
NM_000037.4(ANK1):c.1779_1800+1dup
NM_000037.4(ANK1):c.1781_1794del (p.Ser594fs) rs2150631832
NM_000037.4(ANK1):c.1784dup (p.His596fs)
NM_000037.4(ANK1):c.1786C>A (p.His596Asn)
NM_000037.4(ANK1):c.1801-17G>A rs786205243
NM_000037.4(ANK1):c.1801-3C>G
NM_000037.4(ANK1):c.1888G>A (p.Ala630Thr)
NM_000037.4(ANK1):c.1895C>A (p.Ser632Ter) rs749423708
NM_000037.4(ANK1):c.1900C>T (p.Gln634Ter)
NM_000037.4(ANK1):c.1910C>T (p.Thr637Met)
NM_000037.4(ANK1):c.1930C>T (p.Gln644Ter)
NM_000037.4(ANK1):c.1933G>T (p.Glu645Ter)
NM_000037.4(ANK1):c.1972C>T (p.Gln658Ter)
NM_000037.4(ANK1):c.1982G>A (p.Gly661Asp)
NM_000037.4(ANK1):c.2023dup (p.Val675fs)
NM_000037.4(ANK1):c.2098-5T>C rs2150613009
NM_000037.4(ANK1):c.2148_2157del (p.Val717fs)
NM_000037.4(ANK1):c.2164C>T (p.Gln722Ter) rs747701761
NM_000037.4(ANK1):c.2234G>A (p.Gly745Glu)
NM_000037.4(ANK1):c.2294C>T (p.Ser765Leu)
NM_000037.4(ANK1):c.2296-1G>A
NM_000037.4(ANK1):c.2296-2A>G
NM_000037.4(ANK1):c.2320_2350del (p.Ala774fs)
NM_000037.4(ANK1):c.2369C>T (p.Thr790Met)
NM_000037.4(ANK1):c.2389-2A>G
NM_000037.4(ANK1):c.2390_2393del
NM_000037.4(ANK1):c.2394_2397del (p.Ser799fs) rs2150605978
NM_000037.4(ANK1):c.242C>A (p.Ala81Asp)
NM_000037.4(ANK1):c.247C>T (p.His83Tyr)
NM_000037.4(ANK1):c.2485del (p.Ala829fs)
NM_000037.4(ANK1):c.2510T>C (p.Val837Ala)
NM_000037.4(ANK1):c.2539G>T (p.Val847Leu)
NM_000037.4(ANK1):c.253G>A (p.Ala85Thr)
NM_000037.4(ANK1):c.253G>T (p.Ala85Ser)
NM_000037.4(ANK1):c.2558+2T>C rs2150602525
NM_000037.4(ANK1):c.2572G>C (p.Ala858Pro)
NM_000037.4(ANK1):c.265G>A (p.Gly89Arg)
NM_000037.4(ANK1):c.2681del (p.Pro894fs)
NM_000037.4(ANK1):c.2764del (p.Arg922fs)
NM_000037.4(ANK1):c.2768del (p.Gly923fs) rs2150597126
NM_000037.4(ANK1):c.28-6_29dup
NM_000037.4(ANK1):c.2803C>T (p.Arg935Ter) rs2150597061
NM_000037.4(ANK1):c.2823del (p.Thr942fs)
NM_000037.4(ANK1):c.283C>T (p.Arg95Trp)
NM_000037.4(ANK1):c.2924T>C (p.Ile975Thr)
NM_000037.4(ANK1):c.2960+1G>A rs2150596703
NM_000037.4(ANK1):c.2961-2A>G rs2150594692
NM_000037.4(ANK1):c.2971G>A (p.Val991Met)
NM_000037.4(ANK1):c.3019G>A (p.Val1007Met)
NM_000037.4(ANK1):c.3049T>G (p.Trp1017Gly)
NM_000037.4(ANK1):c.3050G>A (p.Trp1017Ter)
NM_000037.4(ANK1):c.3073G>T (p.Gly1025Ter)
NM_000037.4(ANK1):c.310G>A (p.Val104Ile)
NM_000037.4(ANK1):c.3123del (p.Ser1042fs)
NM_000037.4(ANK1):c.3123dup (p.Ser1042fs)
NM_000037.4(ANK1):c.3150_3151insAAGG (p.Val1051fs)
NM_000037.4(ANK1):c.3157C>T (p.Arg1053Ter) rs2150593517
NM_000037.4(ANK1):c.3179C>T (p.Pro1060Leu) rs267601925
NM_000037.4(ANK1):c.3196_3199dup (p.Ser1067fs)
NM_000037.4(ANK1):c.3220G>A (p.Asp1074Asn)
NM_000037.4(ANK1):c.3235G>A (p.Glu1079Lys)
NM_000037.4(ANK1):c.3386G>T (p.Ser1129Ile) rs2150592257
NM_000037.4(ANK1):c.3387C>A (p.Ser1129Arg)
NM_000037.4(ANK1):c.3395T>A (p.Val1132Asp)
NM_000037.4(ANK1):c.341C>T (p.Pro114Leu)
NM_000037.4(ANK1):c.344T>A (p.Leu115Gln)
NM_000037.4(ANK1):c.3493_3496dup (p.Asp1166fs)
NM_000037.4(ANK1):c.3533-2A>G
NM_000037.4(ANK1):c.3550C>T (p.Gln1184Ter)
NM_000037.4(ANK1):c.3563_3564del (p.Ile1188fs)
NM_000037.4(ANK1):c.3623_3624del (p.Ser1208fs) rs1586144223
NM_000037.4(ANK1):c.3630-1G>A
NM_000037.4(ANK1):c.3641C>T (p.Ser1214Leu)
NM_000037.4(ANK1):c.3727G>A (p.Val1243Ile)
NM_000037.4(ANK1):c.3754C>T (p.Arg1252Ter)
NM_000037.4(ANK1):c.3763C>T (p.Arg1255Cys)
NM_000037.4(ANK1):c.3777C>G (p.Tyr1259Ter)
NM_000037.4(ANK1):c.3820G>A (p.Glu1274Lys)
NM_000037.4(ANK1):c.3829G>C (p.Val1277Leu)
NM_000037.4(ANK1):c.3841del (p.Arg1281fs)
NM_000037.4(ANK1):c.3857A>G (p.Glu1286Gly)
NM_000037.4(ANK1):c.3859-2A>G
NM_000037.4(ANK1):c.3893_3894del (p.Ser1298fs)
NM_000037.4(ANK1):c.3928C>T (p.Gln1310Ter) rs2150586181
NM_000037.4(ANK1):c.3946C>G (p.Gln1316Glu)
NM_000037.4(ANK1):c.3954del (p.Arg1319fs)
NM_000037.4(ANK1):c.4000C>T (p.Arg1334Ter) rs1172677213
NM_000037.4(ANK1):c.4030C>T (p.Arg1344Cys)
NM_000037.4(ANK1):c.4092_4101del (p.Pro1365fs)
NM_000037.4(ANK1):c.409C>T (p.Gln137Ter) rs2150661792
NM_000037.4(ANK1):c.4104G>C (p.Lys1368Asn)
NM_000037.4(ANK1):c.4114G>A (p.Ala1372Thr)
NM_000037.4(ANK1):c.4184-2A>G
NM_000037.4(ANK1):c.4259-1G>T
NM_000037.4(ANK1):c.4267del (p.Arg1423fs)
NM_000037.4(ANK1):c.4370G>A (p.Arg1457His)
NM_000037.4(ANK1):c.4387_4390del (p.Asn1463fs)
NM_000037.4(ANK1):c.4390+1G>A rs2150580336
NM_000037.4(ANK1):c.4391-1G>C
NM_000037.4(ANK1):c.441_466del (p.Pro147_Leu148insTer)
NM_000037.4(ANK1):c.4427G>T (p.Arg1476Leu)
NM_000037.4(ANK1):c.4492C>T (p.Arg1498Trp)
NM_000037.4(ANK1):c.4492_4493del (p.Arg1498fs)
NM_000037.4(ANK1):c.4501G>C (p.Asp1501His)
NM_000037.4(ANK1):c.4529del (p.Gln1510fs)
NM_000037.4(ANK1):c.4599_4600del (p.Pro1534fs)
NM_000037.4(ANK1):c.4694_4711del (p.Asp1565_Ser1570del)
NM_000037.4(ANK1):c.4771G>T (p.Glu1591Ter)
NM_000037.4(ANK1):c.4779_4780del (p.Asp1594fs)
NM_000037.4(ANK1):c.47_50del (p.Ser15_Phe16insTer)
NM_000037.4(ANK1):c.4813del (p.Ala1605fs) rs2150563125
NM_000037.4(ANK1):c.4835_4847del (p.Gly1612fs)
NM_000037.4(ANK1):c.4835del (p.Gly1612fs) rs2150563078
NM_000037.4(ANK1):c.4886del (p.Asp1629fs)
NM_000037.4(ANK1):c.500dup (p.Thr168fs)
NM_000037.4(ANK1):c.5026del (p.His1676fs)
NM_000037.4(ANK1):c.5033G>T (p.Arg1678Met)
NM_000037.4(ANK1):c.5044C>T (p.Arg1682Ter)
NM_000037.4(ANK1):c.5076dup (p.Thr1693fs)
NM_000037.4(ANK1):c.5096+2T>G
NM_000037.4(ANK1):c.5096G>A (p.Arg1699Lys)
NM_000037.4(ANK1):c.5097-33G>A
NM_000037.4(ANK1):c.511_541del (p.Lys171fs)
NM_000037.4(ANK1):c.5126T>C (p.Ile1709Thr)
NM_000037.4(ANK1):c.5163G>A (p.Trp1721Ter) rs137852830
NM_000037.4(ANK1):c.5164del (p.Gln1722fs)
NM_000037.4(ANK1):c.5189A>T (p.His1730Leu)
NM_000037.4(ANK1):c.5282C>T (p.Thr1761Met)
NM_000037.4(ANK1):c.5323_5324del (p.Arg1775fs)
NM_000037.4(ANK1):c.5333G>A (p.Arg1778Lys)
NM_000037.4(ANK1):c.5372A>T (p.Asn1791Ile)
NM_000037.4(ANK1):c.5374_5375del (p.Thr1792fs)
NM_000037.4(ANK1):c.547_559del (p.Asn183fs)
NM_000037.4(ANK1):c.5500C>T (p.Gln1834Ter)
NM_000037.4(ANK1):c.557del (p.Thr186fs)
NM_000037.4(ANK1):c.5606T>G (p.Ile1869Arg)
NM_000037.4(ANK1):c.612+1G>C
NM_000037.4(ANK1):c.613-1G>A
NM_000037.4(ANK1):c.634A>G (p.Ile212Val)
NM_000037.4(ANK1):c.659A>G (p.Asn220Ser)
NM_000037.4(ANK1):c.694G>A (p.Val232Ile)
NM_000037.4(ANK1):c.6dup (p.Tyr3fs)
NM_000037.4(ANK1):c.711+3A>C
NM_000037.4(ANK1):c.712-2A>T rs2150653010
NM_000037.4(ANK1):c.725del (p.Pro242fs) rs2150652933
NM_000037.4(ANK1):c.749G>T (p.Gly250Val)
NM_000037.4(ANK1):c.761T>C (p.Met254Thr)
NM_000037.4(ANK1):c.782G>A (p.Arg261Gln)
NM_000037.4(ANK1):c.806C>T (p.Thr269Ile)
NM_000037.4(ANK1):c.810+1G>A
NM_000037.4(ANK1):c.814G>T (p.Glu272Ter)
NM_000037.4(ANK1):c.841C>T (p.Arg281Ter) rs1829712320
NM_000037.4(ANK1):c.856C>T (p.Arg286Ter) rs2150651762
NM_000037.4(ANK1):c.86del (p.Leu29fs)
NM_000037.4(ANK1):c.910-2A>G
NM_000037.4(ANK1):c.935C>T (p.Ala312Val)
NM_000037.4(ANK1):c.958T>C (p.Cys320Arg)
NM_000037.4(ANK1):c.964C>T (p.Arg322Trp)
NM_000119.2(EPB42):c.929G>A (p.Arg310Gln) rs121917734
NM_000175.5(GPI):c.1022A>G (p.Tyr341Cys)
NM_000175.5(GPI):c.1040G>A (p.Arg347His) rs137853583
NM_000175.5(GPI):c.1081G>A (p.Gly361Arg)
NM_000175.5(GPI):c.1366C>G (p.Pro456Ala)
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.1640A>G (p.Asn547Ser)
NM_000175.5(GPI):c.190G>A (p.Val64Met)
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.695C>T (p.Ala232Val)
NM_000175.5(GPI):c.719C>T (p.Ala240Val)
NM_000175.5(GPI):c.805T>C (p.Trp269Arg)
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)
NM_000289.6(PFKM):c.1199C>T (p.Ser400Leu)
NM_000289.6(PFKM):c.1487T>C (p.Ile496Thr)
NM_000289.6(PFKM):c.1618G>A (p.Val540Ile)
NM_000289.6(PFKM):c.1654-54_1654-46del
NM_000289.6(PFKM):c.1918A>G (p.Ile640Val)
NM_000289.6(PFKM):c.1934C>T (p.Ser645Phe)
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000289.6(PFKM):c.2041G>A (p.Ala681Thr)
NM_000289.6(PFKM):c.2053A>G (p.Asn685Asp)
NM_000289.6(PFKM):c.2093-33G>C
NM_000289.6(PFKM):c.20A>G (p.His7Arg)
NM_000289.6(PFKM):c.2120C>T (p.Ser707Leu)
NM_000289.6(PFKM):c.2202T>G (p.His734Gln)
NM_000289.6(PFKM):c.2312C>T (p.Thr771Ile)
NM_000289.6(PFKM):c.238-3A>G
NM_000289.6(PFKM):c.452C>T (p.Thr151Met)
NM_000289.6(PFKM):c.558G>A (p.Met186Ile)
NM_000289.6(PFKM):c.619G>C (p.Val207Leu)
NM_000289.6(PFKM):c.74G>T (p.Gly25Val)
NM_000289.6(PFKM):c.86G>A (p.Gly29Asp)
NM_000289.6(PFKM):c.962T>C (p.Val321Ala)
NM_000365.6(TPI1):c.158G>A (p.Arg53Gln)
NM_000365.6(TPI1):c.182C>T (p.Ala61Val)
NM_000365.6(TPI1):c.227C>G (p.Thr76Ser)
NM_000365.6(TPI1):c.37T>C (p.Trp13Arg)
NM_000365.6(TPI1):c.409G>C (p.Ala137Pro)
NM_000365.6(TPI1):c.453C>G (p.Ile151Met)
NM_000365.6(TPI1):c.478A>G (p.Lys160Glu)
NM_000365.6(TPI1):c.673C>A (p.Pro225Thr)
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu) rs137852320
NM_000402.4(G6PD):c.1250G>A (p.Arg417His) rs137852321
NM_000402.4(G6PD):c.1268G>A (p.Arg423His) rs137852316
NM_000402.4(G6PD):c.1318G>T (p.Gly440Cys) rs137852323
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) rs137852337
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) rs78478128
NM_000402.4(G6PD):c.482G>T (p.Gly161Val) rs137852341
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) rs137852326
NM_000476.3(AK1):c.148_149delinsAA (p.Gly50Asn)
NM_000476.3(AK1):c.158G>A (p.Arg53Lys)
NM_000476.3(AK1):c.229C>T (p.Arg77Trp)
NM_000476.3(AK1):c.238A>G (p.Met80Val)
NM_000476.3(AK1):c.254A>G (p.Asn85Ser)
NM_000476.3(AK1):c.319C>T (p.Arg107Ter) rs104894102
NM_000476.3(AK1):c.409G>A (p.Gly137Arg)
NM_000476.3(AK1):c.530G>A (p.Gly177Asp)
NM_000476.3(AK1):c.535G>C (p.Val179Leu)
NM_000476.3(AK1):c.55T>G (p.Ser19Ala)
NM_000476.3(AK1):c.78G>C (p.Glu26Asp)
NM_000637.5(GSR):c.1023C>G (p.Asp341Glu)
NM_000637.5(GSR):c.1054G>A (p.Asp352Asn)
NM_000637.5(GSR):c.1060A>G (p.Lys354Glu)
NM_000637.5(GSR):c.1081G>A (p.Glu361Lys)
NM_000637.5(GSR):c.1171C>T (p.Arg391Ter)
NM_000637.5(GSR):c.1196A>C (p.Glu399Ala)
NM_000637.5(GSR):c.1256C>T (p.Pro419Leu)
NM_000637.5(GSR):c.1358C>T (p.Ala453Val)
NM_000637.5(GSR):c.13C>T (p.Pro5Ser)
NM_000637.5(GSR):c.1486A>C (p.Lys496Gln)
NM_000637.5(GSR):c.1525G>A (p.Ala509Thr)
NM_000637.5(GSR):c.172G>T (p.Ala58Ser)
NM_000637.5(GSR):c.372T>C (p.His124=)
NM_000637.5(GSR):c.395C>T (p.Pro132Leu)
NM_000637.5(GSR):c.433G>A (p.Glu145Lys)
NM_000637.5(GSR):c.439C>G (p.Arg147Gly) rs150594097
NM_000637.5(GSR):c.476A>T (p.Gln159Leu)
NM_000637.5(GSR):c.781A>G (p.Ile261Val)
NM_000637.5(GSR):c.815C>T (p.Ser272Leu)
NM_000637.5(GSR):c.94G>T (p.Glu32Ter)
NM_001002010.5(NT5C3A):c.139-9048_139-9037del
NM_001002010.5(NT5C3A):c.142C>A (p.Pro48Thr)
NM_001002010.5(NT5C3A):c.254A>T (p.Asp85Val)
NM_001002010.5(NT5C3A):c.362A>C (p.Gln121Pro)
NM_001002010.5(NT5C3A):c.430A>G (p.Met144Val)
NM_001002010.5(NT5C3A):c.520G>A (p.Val174Ile)
NM_001002010.5(NT5C3A):c.544A>C (p.Asn182His)
NM_001002010.5(NT5C3A):c.554A>G (p.Asp185Gly)
NM_001002010.5(NT5C3A):c.599G>T (p.Gly200Val)
NM_001002010.5(NT5C3A):c.607G>A (p.Asp203Asn)
NM_001002010.5(NT5C3A):c.628C>T (p.Arg210Cys)
NM_001002010.5(NT5C3A):c.697G>T (p.Val233Leu)
NM_001002010.5(NT5C3A):c.809T>C (p.Leu270Pro)
NM_001002010.5(NT5C3A):c.903G>C (p.Glu301Asp)
NM_001002010.5(NT5C3A):c.921_953dup (p.Glu318_Ser319insAspSerTyrAspIleValLeuValGlnAspGlu)
NM_001114134.2(EPB42):c.10+6C>T
NM_001114134.2(EPB42):c.1097T>C (p.Val366Ala)
NM_001114134.2(EPB42):c.1213G>A (p.Glu405Lys)
NM_001114134.2(EPB42):c.1280G>A (p.Arg427His)
NM_001114134.2(EPB42):c.1315G>A (p.Glu439Lys)
NM_001114134.2(EPB42):c.1373G>A (p.Arg458His)
NM_001114134.2(EPB42):c.1564C>A (p.Leu522Ile)
NM_001114134.2(EPB42):c.1619A>G (p.Glu540Gly)
NM_001114134.2(EPB42):c.1696G>A (p.Ala566Thr)
NM_001114134.2(EPB42):c.1782G>A (p.Met594Ile)
NM_001114134.2(EPB42):c.1795G>A (p.Glu599Lys)
NM_001114134.2(EPB42):c.1852A>T (p.Met618Leu)
NM_001114134.2(EPB42):c.2044G>A (p.Val682Ile)
NM_001114134.2(EPB42):c.260G>A (p.Arg87Gln)
NM_001114134.2(EPB42):c.466A>G (p.Met156Val)
NM_001114134.2(EPB42):c.538G>C (p.Asp180His)
NM_001114134.2(EPB42):c.718G>A (p.Ala240Thr)
NM_001114134.2(EPB42):c.889G>A (p.Gly297Ser)
NM_001114134.2(EPB42):c.902G>A (p.Arg301His)
NM_001114134.2(EPB42):c.946G>A (p.Gly316Arg)
NM_001114134.2(EPB42):c.955C>A (p.Gln319Lys)
NM_001243177.4(ALDOA):c.1010A>G (p.Asn337Ser)
NM_001243177.4(ALDOA):c.1085C>T (p.Ala362Val)
NM_001243177.4(ALDOA):c.1114A>G (p.Lys372Glu)
NM_001243177.4(ALDOA):c.1141G>A (p.Glu381Lys)
NM_001243177.4(ALDOA):c.1151A>G (p.Lys384Arg)
NM_001243177.4(ALDOA):c.1156G>A (p.Ala386Thr)
NM_001243177.4(ALDOA):c.1160del (p.Leu387fs)
NM_001243177.4(ALDOA):c.1171C>G (p.Leu391Val)
NM_001243177.4(ALDOA):c.323A>G (p.Glu108Gly)
NM_001243177.4(ALDOA):c.357_359del (p.Ala120del)
NM_001243177.4(ALDOA):c.425C>T (p.Ala142Val)
NM_001243177.4(ALDOA):c.505C>T (p.Pro169Ser)
NM_001243177.4(ALDOA):c.680G>A (p.Arg227His)
NM_001243177.4(ALDOA):c.799G>C (p.Val267Leu)
NM_001321759.2(CDIN1):c.298G>T (p.Ala100Ser)
NM_001321759.2(CDIN1):c.620G>A (p.Gly207Glu)
NM_001321759.2(CDIN1):c.812C>A (p.Thr271Lys)
NM_001321759.2(CDIN1):c.98C>T (p.Pro33Leu)
NM_001353812.2(ATP11C):c.1100A>G (p.Lys367Arg)
NM_001353812.2(ATP11C):c.1161A>T (p.Glu387Asp)
NM_001353812.2(ATP11C):c.116G>A (p.Arg39Lys)
NM_001353812.2(ATP11C):c.1265T>C (p.Ile422Thr)
NM_001353812.2(ATP11C):c.1555T>A (p.Tyr519Asn)
NM_001353812.2(ATP11C):c.1574A>G (p.Gln525Arg)
NM_001353812.2(ATP11C):c.1675C>G (p.Leu559Val)
NM_001353812.2(ATP11C):c.2114T>C (p.Ile705Thr)
NM_001353812.2(ATP11C):c.2159T>G (p.Ile720Arg)
NM_001353812.2(ATP11C):c.2353G>T (p.Val785Leu)
NM_001353812.2(ATP11C):c.2543C>T (p.Ser848Phe)
NM_001353812.2(ATP11C):c.2702C>T (p.Pro901Leu)
NM_001353812.2(ATP11C):c.2992A>G (p.Ile998Val)
NM_001353812.2(ATP11C):c.3056C>T (p.Thr1019Met)
NM_001353812.2(ATP11C):c.3063A>G (p.Ile1021Met)
NM_001353812.2(ATP11C):c.3175C>G (p.Gln1059Glu)
NM_001353812.2(ATP11C):c.354_357del (p.Asn118fs)
NM_001353812.2(ATP11C):c.995G>A (p.Arg332Gln)
NM_001360016.2(G6PD):c.1318C>T (p.Leu440Phe) rs1557229599
NM_001360016.2(G6PD):c.1330G>A (p.Val444Ile)
NM_001360016.2(G6PD):c.1358T>A (p.Val453Glu)
NM_001360016.2(G6PD):c.1420C>G (p.Leu474Val) rs2148328385
NM_001360016.2(G6PD):c.1487T>G (p.Met496Arg)
NM_001360016.2(G6PD):c.376A>T (p.Asn126Tyr) rs1050829
NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg) rs78365220
NM_001360016.2(G6PD):c.404A>C (p.Asn135Thr) rs782322505
NM_001360016.2(G6PD):c.50G>A (p.Arg17Gln)
NM_001360016.2(G6PD):c.553A>C (p.Asn185His)
NM_001360016.2(G6PD):c.634A>G (p.Met212Val)
NM_001360016.2(G6PD):c.835A>T (p.Thr279Ser) rs2148329890
NM_001360016.2(G6PD):c.909_911del (p.Val304del)
NM_001367805.3(KIF23):c.1228C>G (p.Leu410Val)
NM_001367805.3(KIF23):c.1358C>G (p.Ala453Gly)
NM_001367805.3(KIF23):c.1400G>A (p.Arg467Lys)
NM_001367805.3(KIF23):c.1664A>G (p.Gln555Arg)
NM_001367805.3(KIF23):c.1801C>T (p.Arg601Cys)
NM_001367805.3(KIF23):c.2089G>A (p.Val697Ile) rs376569877
NM_001367805.3(KIF23):c.2089G>C (p.Val697Leu)
NM_001367805.3(KIF23):c.211A>G (p.Thr71Ala)
NM_001367805.3(KIF23):c.2222C>T (p.Ser741Leu)
NM_001367805.3(KIF23):c.2237A>C (p.Lys746Thr)
NM_001367805.3(KIF23):c.2242C>T (p.Pro748Ser)
NM_001367805.3(KIF23):c.2334A>T (p.Arg778Ser)
NM_001367805.3(KIF23):c.2446G>A (p.Ala816Thr)
NM_001367805.3(KIF23):c.2452C>T (p.Pro818Ser)
NM_001367805.3(KIF23):c.2479C>T (p.Arg827Cys)
NM_001367805.3(KIF23):c.2501T>C (p.Val834Ala)
NM_001367805.3(KIF23):c.497A>C (p.Glu166Ala)
NM_001367805.3(KIF23):c.537G>A (p.Met179Ile)
NM_001367805.3(KIF23):c.560G>A (p.Ser187Asn)
NM_001367805.3(KIF23):c.844G>A (p.Val282Ile)
NM_001367805.3(KIF23):c.952G>T (p.Val318Leu)
NM_001367805.3(KIF23):c.999C>A (p.Asp333Glu)
NM_001376013.1(EPB41):c.1039G>A (p.Val347Met)
NM_001376013.1(EPB41):c.1175del (p.Lys392fs) rs2150273700
NM_001376013.1(EPB41):c.1330dup (p.Arg444fs)
NM_001376013.1(EPB41):c.1354C>T (p.Arg452Trp)
NM_001376013.1(EPB41):c.1412G>A (p.Arg471Gln)
NM_001376013.1(EPB41):c.1441G>A (p.Val481Ile)
NM_001376013.1(EPB41):c.1660C>T (p.Arg554Ter)
NM_001376013.1(EPB41):c.1838C>A (p.Ala613Glu)
NM_001376013.1(EPB41):c.2085_2089del (p.Val696fs)
NM_001376013.1(EPB41):c.2285C>T (p.Thr762Ile)
NM_001376013.1(EPB41):c.2438A>G (p.Glu813Gly)
NM_001376013.1(EPB41):c.2444G>A (p.Arg815His)
NM_001376013.1(EPB41):c.2536C>G (p.Pro846Ala)
NM_001376013.1(EPB41):c.2566C>T (p.His856Tyr)
NM_001376013.1(EPB41):c.712C>T (p.Arg238Ter) rs1160118901
NM_001376013.1(EPB41):c.731A>G (p.Asn244Ser)
NM_001376013.1(EPB41):c.763A>G (p.Ile255Val)
NM_001376013.1(EPB41):c.776C>T (p.Ala259Val) rs2149686920
NM_001376013.1(EPB41):c.832G>A (p.Val278Ile)
NM_001376013.1(EPB41):c.938T>C (p.Ile313Thr)
NM_001376013.1(EPB41):c.979T>A (p.Leu327Ile)
NM_001386140.1(MTTP):c.2329C>T (p.Arg777Ter) rs777548973
NM_001386140.1(MTTP):c.501+1G>A rs2110217173
NM_001386140.1(MTTP):c.730C>T (p.Gln244Ter)
NM_001724.5(BPGM):c.461G>A (p.Arg154Gln)
NM_002250.3(KCNN4):c.1055G>A (p.Arg352His) rs774455945
NM_002250.3(KCNN4):c.1193C>T (p.Thr398Met)
NM_002250.3(KCNN4):c.1272G>T (p.Gln424His)
NM_002250.3(KCNN4):c.20T>C (p.Leu7Pro)
NM_002250.3(KCNN4):c.263T>G (p.Met88Arg)
NM_002250.3(KCNN4):c.289C>A (p.Arg97Ser)
NM_002250.3(KCNN4):c.340G>T (p.Val114Leu)
NM_002250.3(KCNN4):c.391T>A (p.Leu131Ile)
NM_002250.3(KCNN4):c.40C>T (p.Arg14Cys)
NM_002250.3(KCNN4):c.611C>G (p.Pro204Arg)
NM_002250.3(KCNN4):c.726_729del (p.Leu241_Trp242insTer)
NM_002250.3(KCNN4):c.766G>A (p.Val256Met)
NM_002250.3(KCNN4):c.787G>A (p.Gly263Ser)
NM_002250.3(KCNN4):c.839T>A (p.Leu280Gln)
NM_002250.3(KCNN4):c.844G>A (p.Val282Met) rs1057519076
NM_002250.3(KCNN4):c.845T>A (p.Val282Glu) rs1057519077
NM_002250.3(KCNN4):c.8G>A (p.Gly3Glu)
NM_002250.3(KCNN4):c.904A>T (p.Met302Leu)
NM_002250.3(KCNN4):c.970A>G (p.Met324Val)
NM_032609.3(COX4I2):c.28G>A (p.Val10Met)
NM_032609.3(COX4I2):c.333C>G (p.Phe111Leu)
NM_138477.4(CDAN1):c.1055_1056del (p.Leu352fs) rs2140505826
NM_138477.4(CDAN1):c.1138G>C (p.Val380Leu)
NM_138477.4(CDAN1):c.1180G>A (p.Glu394Lys)
NM_138477.4(CDAN1):c.1340G>A (p.Arg447Gln)
NM_138477.4(CDAN1):c.1448G>A (p.Ser483Asn)
NM_138477.4(CDAN1):c.1587T>G (p.Asp529Glu)
NM_138477.4(CDAN1):c.1606G>C (p.Ala536Pro)
NM_138477.4(CDAN1):c.1663A>G (p.Ser555Gly)
NM_138477.4(CDAN1):c.1681C>T (p.Pro561Ser)
NM_138477.4(CDAN1):c.1715G>C (p.Arg572Thr)
NM_138477.4(CDAN1):c.1763T>C (p.Met588Thr)
NM_138477.4(CDAN1):c.1775G>A (p.Ser592Asn)
NM_138477.4(CDAN1):c.1819G>A (p.Glu607Lys)
NM_138477.4(CDAN1):c.187C>T (p.Arg63Cys) rs775619948
NM_138477.4(CDAN1):c.2029C>T (p.Arg677Trp)
NM_138477.4(CDAN1):c.2045G>A (p.Arg682Gln)
NM_138477.4(CDAN1):c.2052G>A (p.Leu684=)
NM_138477.4(CDAN1):c.2060G>A (p.Arg687His)
NM_138477.4(CDAN1):c.2062C>T (p.Arg688Trp)
NM_138477.4(CDAN1):c.2194G>A (p.Glu732Lys)
NM_138477.4(CDAN1):c.222G>T (p.Lys74Asn)
NM_138477.4(CDAN1):c.226C>G (p.Pro76Ala)
NM_138477.4(CDAN1):c.2285T>C (p.Leu762Ser)
NM_138477.4(CDAN1):c.230del (p.Gly77fs)
NM_138477.4(CDAN1):c.2357A>G (p.Asn786Ser)
NM_138477.4(CDAN1):c.2403dup (p.Ile802fs)
NM_138477.4(CDAN1):c.2428G>A (p.Ala810Thr)
NM_138477.4(CDAN1):c.2542-3C>G rs201401533
NM_138477.4(CDAN1):c.2585T>C (p.Leu862Ser)
NM_138477.4(CDAN1):c.2645+2dup
NM_138477.4(CDAN1):c.2650A>C (p.Thr884Pro)
NM_138477.4(CDAN1):c.2672G>A (p.Arg891His)
NM_138477.4(CDAN1):c.2852_2853del (p.Glu951fs) rs2140471687
NM_138477.4(CDAN1):c.2861C>T (p.Pro954Leu)
NM_138477.4(CDAN1):c.2887A>G (p.Asn963Asp)
NM_138477.4(CDAN1):c.2893G>T (p.Ala965Ser)
NM_138477.4(CDAN1):c.2939A>G (p.Asn980Ser)
NM_138477.4(CDAN1):c.2947G>C (p.Ala983Pro)
NM_138477.4(CDAN1):c.2975C>T (p.Ala992Val)
NM_138477.4(CDAN1):c.2984G>T (p.Arg995Leu)
NM_138477.4(CDAN1):c.2995G>A (p.Ala999Thr)
NM_138477.4(CDAN1):c.3026A>G (p.Glu1009Gly)
NM_138477.4(CDAN1):c.3028C>G (p.Arg1010Gly)
NM_138477.4(CDAN1):c.3106T>C (p.Ser1036Pro)
NM_138477.4(CDAN1):c.3119G>A (p.Gly1040Glu)
NM_138477.4(CDAN1):c.3135C>A (p.Asp1045Glu) rs146289653
NM_138477.4(CDAN1):c.3136G>A (p.Glu1046Lys)
NM_138477.4(CDAN1):c.3199C>T (p.Arg1067Cys)
NM_138477.4(CDAN1):c.3416A>C (p.Asn1139Thr)
NM_138477.4(CDAN1):c.3476G>A (p.Arg1159Gln)
NM_138477.4(CDAN1):c.3597T>G (p.Phe1199Leu)
NM_138477.4(CDAN1):c.3604G>A (p.Glu1202Lys)
NM_138477.4(CDAN1):c.3658C>T (p.Arg1220Trp)
NM_138477.4(CDAN1):c.463G>A (p.Gly155Ser)
NM_138477.4(CDAN1):c.494C>T (p.Thr165Met)
NM_138477.4(CDAN1):c.548C>T (p.Ser183Leu)
NM_138477.4(CDAN1):c.779A>G (p.Lys260Arg)
NM_138477.4(CDAN1):c.77C>T (p.Thr26Ile)
NM_138477.4(CDAN1):c.788del (p.Gln263fs)
NM_138477.4(CDAN1):c.791A>C (p.Gln264Pro)
NM_138477.4(CDAN1):c.803C>G (p.Pro268Arg)
NM_138477.4(CDAN1):c.844C>T (p.Arg282Trp)
NM_138477.4(CDAN1):c.88G>C (p.Glu30Gln)
NM_138477.4(CDAN1):c.890C>A (p.Ser297Tyr)

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