ClinVar Miner

List of variants studied for familial hemolytic anemia by OMIM

Included ClinVar conditions (77):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 252
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003126.4(SPTA1):c.2373C>A (p.Asp791Glu) rs7418956 0.01431
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031 0.01150
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_032609.3(COX4I2):c.412G>A (p.Glu138Lys) rs119455950 0.00218
NM_005689.4(ABCB6):c.2168G>A (p.Arg723Gln) rs148211042 0.00073
NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg) rs28931583 0.00054
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln) rs113403872 0.00052
NM_138477.4(CDAN1):c.1860+5G>A rs113313967 0.00051
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys) rs121918221 0.00024
NM_000375.3(UROS):c.217T>C (p.Cys73Arg) rs121908012 0.00022
NM_003126.4(SPTA1):c.620T>C (p.Leu207Pro) rs121918643 0.00019
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp) rs121918222 0.00017
NM_000342.3(SLC4A1):c.268G>A (p.Glu90Lys) rs28929480 0.00013
NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter) rs121918226 0.00013
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu) rs120074167 0.00013
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp) rs121964845 0.00012
NM_000289.6(PFKM):c.237+1G>A rs202143236 0.00006
NM_000375.3(UROS):c.63+1G>A rs373864821 0.00006
NM_000375.3(UROS):c.673G>A (p.Gly225Ser) rs121908020 0.00006
NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro) rs121918634 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_000298.6(PKLR):c.1436G>A (p.Arg479His) rs118204085 0.00004
NM_000324.3(RHAG):c.157+1G>A rs375508949 0.00004
NM_000342.3(SLC4A1):c.388G>A (p.Gly130Arg) rs121912749 0.00004
NM_000375.3(UROS):c.683C>T (p.Thr228Met) rs121908014 0.00004
NM_001142864.4(PIEZO1):c.6380C>T (p.Thr2127Met) rs587776991 0.00004
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His) rs199422220 0.00004
NM_001386140.1(MTTP):c.2593G>T (p.Gly865Ter) rs146064714 0.00004
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter) rs121918225 0.00004
NM_000375.3(UROS):c.10C>T (p.Leu4Phe) rs121908015 0.00003
NM_000375.3(UROS):c.661-31T>G rs750180293 0.00003
NM_003126.4(SPTA1):c.781T>C (p.Ser261Pro) rs121918636 0.00003
NM_006363.6(SEC23B):c.790C>T (p.Arg264Ter) rs121918224 0.00003
NM_000175.5(GPI):c.1028A>G (p.Gln343Arg) rs267606851 0.00002
NM_000289.6(PFKM):c.1628A>C (p.Asp543Ala) rs121918194 0.00002
NM_000342.3(SLC4A1):c.-62G>A rs387906565 0.00002
NM_000342.4(SLC4A1):c.2102G>A (p.Gly701Asp) rs121912748 0.00002
NM_001002010.5(NT5C3A):c.395A>T (p.Asp132Val) rs104894025 0.00002
NM_000037.4(ANK1):c.5497C>T (p.Arg1833Ter) rs137852831 0.00001
NM_000119.2(EPB42):c.424G>A (p.Ala142Thr) rs104894487 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.475G>A (p.Gly159Ser) rs137853582 0.00001
NM_000175.5(GPI):c.59A>C (p.His20Pro) rs137853586 0.00001
NM_000188.3(HK1):c.2039C>G (p.Thr680Ser) rs398122379 0.00001
NM_000298.6(PKLR):c.1151C>T (p.Thr384Met) rs74315362 0.00001
NM_000298.6(PKLR):c.1269G>A (p.Ala423=) rs774652817 0.00001
NM_000298.6(PKLR):c.1318G>T (p.Glu440Ter) rs771145576 0.00001
NM_000324.3(RHAG):c.1067+1G>A rs1562012617 0.00001
NM_000324.3(RHAG):c.3G>T (p.Met1Ile) rs121918588 0.00001
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met) rs28931584 0.00001
NM_000342.3(SLC4A1):c.2312G>A (p.Gly771Asp) rs121912741 0.00001
NM_000365.6(TPI1):c.125G>A (p.Cys42Tyr) rs121964848 0.00001
NM_000375.3(UROS):c.-203T>C rs1554891988 0.00001
NM_000375.3(UROS):c.-26-193C>A rs397515350 0.00001
NM_000375.3(UROS):c.184A>G (p.Thr62Ala) rs28941775 0.00001
NM_000375.3(UROS):c.244G>T (p.Val82Phe) rs121908016 0.00001
NM_000384.3(APOB):c.11712del (p.Asn3904fs) rs587776852 0.00001
NM_000384.3(APOB):c.6253C>T (p.Arg2085Ter) rs121918386 0.00001
NM_000384.3(APOB):c.7564C>T (p.Arg2522Ter) rs121918390 0.00001
NM_000476.3(AK1):c.118G>A (p.Gly40Arg) rs137853204 0.00001
NM_000476.3(AK1):c.190G>A (p.Gly64Arg) rs137853205 0.00001
NM_000637.5(GSR):c.993G>A (p.Trp331Ter) rs1345036090 0.00001
NM_001002010.5(NT5C3A):c.631C>T (p.Gln211Ter) rs104894026 0.00001
NM_001002010.5(NT5C3A):c.671A>G (p.Asn224Ser) rs104894028 0.00001
NM_001002010.5(NT5C3A):c.844_845dup (p.Val283fs) rs397518436 0.00001
NM_001386140.1(MTTP):c.1783C>T (p.Arg595Ter) rs199422219 0.00001
NM_001386140.1(MTTP):c.1867+5G>A rs1429774833 0.00001
NM_001724.5(BPGM):c.185G>A (p.Arg62Gln) rs751972865 0.00001
NM_001724.5(BPGM):c.268C>T (p.Arg90Cys) rs121964925 0.00001
NM_001724.5(BPGM):c.269G>A (p.Arg90His) rs781222092 0.00001
NM_003126.4(SPTA1):c.137G>T (p.Gly46Val) rs121918638 0.00001
NM_003126.4(SPTA1):c.1412A>C (p.Gln471Pro) rs121918635 0.00001
NM_003126.4(SPTA1):c.82C>T (p.Arg28Cys) rs121918642 0.00001
NM_005689.4(ABCB6):c.1124G>A (p.Arg375Gln) rs754667801 0.00001
NM_006363.6(SEC23B):c.1588C>T (p.Arg530Trp) rs121918223 0.00001
NM_138477.4(CDAN1):c.1796A>G (p.Asn599Ser) rs120074166 0.00001
APOB, 1-BP DEL, 4432T
APOB, EX21DEL
G6PD Amsterdam rs2070404412
G6PD NARA rs587776730
KLF1, -154C-T
KLF1, TRP30TER
NC_000001.11:g.155301478C>G rs2148221101
NC_000002.12:g.21004453del rs387906569
NC_000010.11:g.125815036_125815132del rs2133941461
NG_011474.1:g.11070_11071insSVAelement
NG_016202.2:g.(105169_105646)_(109769_110365)del
NM_000037.4(ANK1):c.1519dup (p.Leu507fs) rs397514029
NM_000037.4(ANK1):c.5005G>T (p.Glu1669Ter) rs137852829
NM_000037.4(ANK1):c.5163G>A (p.Trp1721Ter) rs137852830
NM_000119.2(EPB42):c.1747G>T (p.Glu583Ter) rs115998465
NM_000119.2(EPB42):c.922+1G>A rs266257355
NM_000119.2(EPB42):c.929G>A (p.Arg310Gln) rs121917734
NM_000175.5(GPI):c.1016T>C (p.Leu339Pro) rs137853587
NM_000175.5(GPI):c.1040G>A (p.Arg347His) rs137853583
NM_000175.5(GPI):c.1124C>G (p.Thr375Arg) rs267606853
NM_000175.5(GPI):c.1615G>A (p.Asp539Asn) rs137853585
NM_000188.3(HK1):c.1586T>C (p.Leu529Ser) rs137853249
NM_000188.3(HK1):c.497_591+1del
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro) rs121918193
NM_000289.6(PFKM):c.116G>T (p.Arg39Leu) rs121918193
NM_000289.6(PFKM):c.1341+1G>T rs755419857
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000289.6(PFKM):c.2058G>T (p.Trp686Cys) rs121918196
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) rs121918195
NM_000289.6(PFKM):c.428-2A>C rs895690691
NM_000298.6(PKLR):c.1261C>A (p.Gln421Lys) rs118204084
NM_000298.6(PKLR):c.389C>A (p.Ser130Tyr) rs118204089
NM_000298.6(PKLR):c.487C>T (p.Arg163Cys) rs118204083
NM_000298.6(PKLR):c.826del (p.Val276fs) rs754939638
NM_000324.2(RHAG):c.[808G>A;838G>A]
NM_000324.3(RHAG):c.1086del (p.Ala363fs) rs1562011389
NM_000324.3(RHAG):c.1139G>T (p.Gly380Val) rs121918589
NM_000324.3(RHAG):c.154_157delinsGA (p.Pro52fs) rs387906519
NM_000324.3(RHAG):c.182T>G (p.Ile61Arg) rs863225469
NM_000324.3(RHAG):c.194T>C (p.Phe65Ser) rs863225468
NM_000324.3(RHAG):c.236G>A (p.Ser79Asn) rs121918586
NM_000324.3(RHAG):c.544G>A (p.Gly182Ser)
NM_000324.3(RHAG):c.836G>A (p.Gly279Glu) rs121918587
NM_000324.3(RHAG):c.920C>T (p.Ser307Phe)
NM_000324.3(RHAG):c.946-1G>A rs1562012697
NM_000342.3(SLC4A1):c.2279G>A (p.Arg760Gln) rs121912755
NM_000342.3(SLC4A1):c.2464_2465insCACCCAGATG (p.Val822Alafs) rs387906566
NM_000342.3(SLC4A1):c.2509A>G (p.Thr837Ala) rs121912750
NM_000342.3(SLC4A1):c.2608C>T (p.Arg870Trp) rs28931585
NM_000342.3(SLC4A1):c.448C>T (p.Arg150Ter) rs56361140
NM_000342.3(SLC4A1):c.988C>T (p.Gln330Ter) rs121912742
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del) rs769664228
NM_000342.4(SLC4A1):c.1805G>C (p.Arg602Pro) rs121912754
NM_000342.4(SLC4A1):c.2060T>C (p.Leu687Pro) rs863225463
NM_000342.4(SLC4A1):c.2191T>C (p.Ser731Pro) rs863225461
NM_000342.4(SLC4A1):c.2201A>G (p.His734Arg) rs863225462
NM_000342.4(SLC4A1):c.2545GTG[1] (p.Val850del) rs121912752
NM_000365.6(TPI1):c.32dup (p.Asn12fs) rs587777441
NM_000365.6(TPI1):c.436G>T (p.Glu146Ter) rs121964850
NM_000365.6(TPI1):c.511A>G (p.Ile171Val) rs121964849
NM_000365.6(TPI1):c.721T>C (p.Phe241Leu) rs121964847
NM_000365.6(TPI1):c.722T>C (p.Phe241Ser) rs587777440
NM_000375.3(UROS):c.-26-183G>A rs397515349
NM_000375.3(UROS):c.-26-197C>A rs397515351
NM_000375.3(UROS):c.158C>T (p.Pro53Leu) rs121908013
NM_000375.3(UROS):c.197C>T (p.Ala66Val) rs28941774
NM_000375.3(UROS):c.243A>T (p.Glu81Asp) rs121908018
NM_000375.3(UROS):c.395-1dup rs796051859
NM_000375.3(UROS):c.562G>A (p.Gly188Arg) rs121908017
NM_000375.3(UROS):c.562G>T (p.Gly188Trp) rs121908017
NM_000375.3(UROS):c.743C>A (p.Pro248Gln) rs121908021
NM_000384.3(APOB):c.12181del (p.Glu4061fs) rs121918385
NM_000384.3(APOB):c.3997C>T (p.Arg1333Ter) rs121918383
NM_000384.3(APOB):c.4352del (p.Gly1451fs) rs397514256
NM_000384.3(APOB):c.4429C>T (p.Gln1477Ter) rs121918389
NM_000384.3(APOB):c.5263_5266del (p.Asn1755fs) rs281865425
NM_000384.3(APOB):c.5463del (p.His1822fs) rs397514255
NM_000384.3(APOB):c.5566_5567del (p.Val1856fs) rs121918384
NM_000384.3(APOB):c.819-2A>G rs1572800245
NM_000384.3(APOB):c.905-1_905dup rs606231236
NM_000384.3(APOB):c.9200del (p.Lys3067fs) rs121918387
NM_000402.4(G6PD):c.1054T>C (p.Tyr352His) rs137852347
NM_000402.4(G6PD):c.1172C>T (p.Ala391Val) rs137852345
NM_000402.4(G6PD):c.1179C>A (p.Asn393Lys) rs137852329
NM_000402.4(G6PD):c.1192G>A (p.Glu398Lys) rs387906468
NM_000402.4(G6PD):c.1249C>T (p.Arg417Cys) rs137852334
NM_000402.4(G6PD):c.1268G>A (p.Arg423His) rs137852316
NM_000402.4(G6PD):c.1270G>C (p.Val424Leu) rs137852335
NM_000402.4(G6PD):c.1319G>A (p.Gly440Asp) rs137852336
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) rs137852337
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg) rs137852317
NM_000402.4(G6PD):c.683G>C (p.Arg228Pro) rs137852332
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) rs137852326
NM_000402.4(G6PD):c.896G>A (p.Cys299Tyr) rs137852346
NM_000476.3(AK1):c.139del (p.Val47fs) rs387906583
NM_000476.3(AK1):c.319C>T (p.Arg107Ter) rs104894102
NM_000476.3(AK1):c.382C>T (p.Arg128Trp) rs104894101
NM_000476.3(AK1):c.418GAC[1] (p.Asp141del) rs387906582
NM_000476.3(AK1):c.491A>G (p.Tyr164Cys) rs137853203
NM_000611.6(CD59):c.123del (p.Val42fs) rs2133545024
NM_000611.6(CD59):c.146del (p.Asp49fs) rs587777149
NM_000611.6(CD59):c.266G>A (p.Cys89Tyr) rs397514767
NM_000637.5(GSR):c.1121G>C (p.Gly374Ala) rs1586033745
NM_000637.5(GSR):c.1286-229_*499del
NM_001002010.5(NT5C3A):c.486dup (p.Ala163fs) rs397518437
NM_001002010.5(NT5C3A):c.645T>G (p.Tyr215Ter) rs104894027
NM_001002010.5(NT5C3A):c.679del (p.Asp227fs) rs397518438
NM_001002010.5(NT5C3A):c.694-1G>C rs397518435
NM_001002010.5(NT5C3A):c.694-1G>T rs397518435
NM_001002010.5(NT5C3A):c.823G>C (p.Gly275Arg) rs104894029
NM_001114134.2(EPB42):c.175del (p.Val59fs) rs266257354
NM_001142864.2(PIEZO1):[c.3350C>T;c.6059C>T]
NM_001142864.2(PIEZO1):c.[1848+31C>G;2344G>A;2423G>A]
NM_001142864.4(PIEZO1):c.2247GGA[7] (p.Glu756del) rs59446030
NM_001142864.4(PIEZO1):c.4073G>C (p.Arg1358Pro) rs587776990
NM_001142864.4(PIEZO1):c.6058G>A (p.Ala2020Thr) rs587776989
NM_001142864.4(PIEZO1):c.6674T>G (p.Met2225Arg) rs587776987
NM_001142864.4(PIEZO1):c.7367G>A (p.Arg2456His) rs587776988
NM_001142864.4(PIEZO1):c.7477CTGGAG[3] (p.2493LE[3]) rs587776992
NM_001243177.4(ALDOA):c.548A>G (p.Asp183Gly) rs121909533
NM_001243177.4(ALDOA):c.781G>A (p.Glu261Lys) rs121909534
NM_001321759.2(CDIN1):c.281A>G (p.Tyr94Cys) rs587777101
NM_001321759.2(CDIN1):c.533T>A (p.Leu178Gln) rs587777100
NM_001353812.2(ATP11C):c.1244C>A (p.Thr415Asn) rs1556323334
NM_001355436.2(SPTB):c.1912del (p.Arg638fs) rs863223304
NM_001355436.2(SPTB):c.1A>G (p.Met1Val) rs121918651
NM_001355436.2(SPTB):c.5266C>T (p.Arg1756Ter) rs267607086
NM_001355436.2(SPTB):c.604T>C (p.Trp202Arg) rs121918646
NM_001367805.3(KIF23):c.2789C>G (p.Pro930Arg) rs2140422904
NM_001367805.3(KIF23):c.2875del (p.Leu959fs) rs2140424959
NM_001376013.1(EPB41):c.629T>C (p.Met210Thr) rs121434564
NM_001376013.1(EPB41):c.629T>G (p.Met210Arg) rs121434564
NM_001386140.1(MTTP):c.1237-1G>A rs1560621444
NM_001386140.1(MTTP):c.1237_1344del (p.Ser413_Lys448del)
NM_001386140.1(MTTP):c.1769G>T (p.Ser590Ile) rs199422222
NM_001386140.1(MTTP):c.215del (p.Pro72fs) rs1560614154
NM_001386140.1(MTTP):c.2338A>T (p.Asn780Tyr) rs199422221
NM_001724.5(BPGM):c.61del (p.Arg21fs) rs786205092
NM_002049.4(GATA1):c.220+1del rs587776453
NM_002049.4(GATA1):c.220G>C (p.Val74Leu) rs587776452
NM_002049.4(GATA1):c.2T>C (p.Met1Thr) rs587776451
NM_002049.4(GATA1):c.919C>T (p.Arg307Cys) rs1057518396
NM_002049.4(GATA1):c.920G>A (p.Arg307His) rs1557020556
NM_002250.3(KCNN4):c.1055G>A (p.Arg352His) rs774455945
NM_002250.3(KCNN4):c.844G>A (p.Val282Met) rs1057519076
NM_002250.3(KCNN4):c.845T>A (p.Val282Glu) rs1057519077
NM_003126.2(SPTA1):c.5190_5310del rs754614154
NM_003126.4(SPTA1):c.121C>T (p.Arg41Trp) rs121918640
NM_003126.4(SPTA1):c.135G>T (p.Arg45Ser) rs121918637
NM_003126.4(SPTA1):c.145C>T (p.Leu49Phe) rs121918639
NM_003126.4(SPTA1):c.2465-1G>A rs863223305
NM_003126.4(SPTA1):c.4339-99C>T rs200830867
NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup) rs757679761
NM_003126.4(SPTA1):c.82C>A (p.Arg28Ser) rs121918642
NM_003126.4(SPTA1):c.83G>A (p.Arg28His) rs121918641
NM_003126.4(SPTA1):c.83G>T (p.Arg28Leu) rs121918641
NM_004437.3(EPB41):c.1219_1458del
NM_004437.3(EPB41):c.1219_1587del
NM_005689.4(ABCB6):c.1123C>T (p.Arg375Trp) rs764893806
NM_006516.4(SLC2A1):c.1303ATC[1] (p.Ile436del) rs864309522
NM_006516.4(SLC2A1):c.857G>A (p.Gly286Asp) rs864309514
NM_006563.5(KLF1):c.1012C>A (p.Pro338Thr)
NM_006563.5(KLF1):c.172C>T (p.Gln58Ter)
NM_006563.5(KLF1):c.519_525dup (p.Gly176fs) rs483352838
NM_006563.5(KLF1):c.892G>C (p.Ala298Pro) rs387907598
NM_006563.5(KLF1):c.902G>A (p.Arg301His)
NM_006563.5(KLF1):c.954dup (p.Arg319fs) rs397514445
NM_006563.5(KLF1):c.973G>A (p.Glu325Lys) rs267607201
NM_138477.4(CDAN1):c.1117_1119del (p.Val373del) rs120074169
NM_138477.4(CDAN1):c.2602T>A (p.Phe868Ile) rs120074168
NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp) rs80338697
NM_203342.2(EPB41):c.-159_159del
PKLR, 1-BP DEL
UROS, 80-BP INS

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