ClinVar Miner

List of variants reported as benign for familial hemolytic anemia

Included ClinVar conditions (77):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 533
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HGVS dbSNP gnomAD frequency
NM_003126.4(SPTA1):c.6548+45A>C rs857717 0.99952
NM_003126.4(SPTA1):c.5189+35A>C rs2518492 0.99935
NM_000476.3(AK1):c.477T>C (p.Pro159=) rs913986 0.99820
NM_001142864.4(PIEZO1):c.1196-48A>G rs4782410 0.99677
NM_003126.4(SPTA1):c.3487T>G (p.Ser1163Ala) rs2482965 0.99361
NM_000037.4(ANK1):c.129+125C>T rs486223 0.98833
NM_000037.4(ANK1):c.*2152T>G rs543817 0.98376
NM_000037.4(ANK1):c.5096+16T>C rs508112 0.97818
NM_003126.4(SPTA1):c.126C>T (p.Val42=) rs435080 0.97180
NM_003126.4(SPTA1):c.24+3A>G rs2564858 0.97164
NM_003126.4(SPTA1):c.813-7A>T rs325995 0.95672
NM_003126.4(SPTA1):c.942T>A (p.Ala314=) rs325996 0.95473
NM_001321759.2(CDIN1):c.273+82C>T rs10220785 0.95448
NM_001321759.2(CDIN1):c.274-82T>A rs6495863 0.95445
NM_001321759.2(CDIN1):c.148-19G>T rs11073191 0.95366
NM_006363.6(SEC23B):c.1233+9A>G rs6081189 0.91788
NM_006363.6(SEC23B):c.834+40T>C rs911115 0.91369
NM_001142864.4(PIEZO1):c.248T>C (p.Ile83Thr) rs6500495 0.89953
NM_001142864.4(PIEZO1):c.3699+33T>C rs4516218 0.89952
NM_001358263.1(HK1):c.75+5174A>G rs906220 0.89921
NM_001142864.4(PIEZO1):c.6570A>G (p.Pro2190=) rs6500491 0.89832
NM_001142864.4(PIEZO1):c.4014T>C (p.Phe1338=) rs4782430 0.89391
NM_001142864.4(PIEZO1):c.7059T>C (p.Pro2353=) rs2290902 0.87977
NM_001142864.4(PIEZO1):c.4956-3T>C rs9935872 0.87681
NM_001354735.1(PFKM):c.226C>A (p.Gln76Lys) rs4760682 0.86945
NM_001142864.4(PIEZO1):c.749T>C (p.Val250Ala) rs7184427 0.85861
NM_001142864.4(PIEZO1):c.161-32G>A rs7201439 0.85011
NM_006363.5(SEC23B):c.-232C>G rs4813333 0.83645
NM_000188.3(HK1):c.1443G>A (p.Lys481=) rs748235 0.80224
NM_001321759.2(CDIN1):c.477-55G>A rs2381887 0.78569
NM_000289.6(PFKM):c.1880+27A>G rs4075913 0.78311
NM_000037.4(ANK1):c.5479-3T>C rs515071 0.75703
NM_001002010.5(NT5C3A):c.378T>C (p.Tyr126=) rs3750117 0.71939
NM_001142864.4(PIEZO1):c.1180G>C (p.Val394Leu) rs6500493 0.70789
NM_000188.3(HK1):c.1839+31G>A rs749105 0.70672
NM_006363.6(SEC23B):c.1665+48C>T rs2295557 0.66701
NM_001142864.4(PIEZO1):c.6642G>C (p.Leu2214=) rs8057031 0.63867
NM_000342.4(SLC4A1):c.*1568G>A rs5033 0.63671
NM_001360016.2(G6PD):c.1365-13C>T rs2071429 0.63462
NM_000037.4(ANK1):c.229-47G>A rs1872877 0.61566
NM_003126.4(SPTA1):c.4702T>C (p.Cys1568Arg) rs863931 0.60775
NM_001386140.1(MTTP):c.*1046C>G rs1061271 0.59509
NM_000188.3(HK1):c.2219+27T>C rs2278745 0.56586
NM_001321759.2(CDIN1):c.476+33T>C rs3743338 0.55611
NM_001355436.2(SPTB):c.4002+26T>C rs229634 0.53044
NM_001243177.4(ALDOA):c.142-63G>C rs9783783 0.52268
NM_003126.4(SPTA1):c.*295C>T rs12601 0.52219
NM_003126.4(SPTA1):c.7095A>G (p.Ala2365=) rs2251969 0.52153
NM_003126.4(SPTA1):c.6794T>C (p.Ile2265Thr) rs952094 0.52034
NM_003126.4(SPTA1):c.264+46T>C rs857937 0.50357
NM_003126.4(SPTA1):c.813-45A>G rs703122 0.49749
NM_003126.4(SPTA1):c.915T>C (p.Ser305=) rs703121 0.49738
NM_001321759.2(CDIN1):c.-105C>T rs3743337 0.48044
NM_001386140.1(MTTP):c.453T>C (p.Gly151=) rs991811 0.47516
NM_001386140.1(MTTP):c.891C>G (p.His297Gln) rs2306985 0.47212
NM_001355436.2(SPTB):c.2154A>C (p.Ile718=) rs229591 0.44391
NM_001321759.2(CDIN1):c.217C>G (p.Leu73Val) rs3784678 0.43599
NM_000375.3(UROS):c.561+19C>T rs2281954 0.43234
NM_000375.3(UROS):c.562-26C>T rs3740179 0.43206
NM_001355436.2(SPTB):c.1316G>A (p.Ser439Asn) rs229587 0.42630
NM_001355436.2(SPTB):c.300+7T>C rs229581 0.41899
NM_000375.3(UROS):c.-219C>A rs4385801 0.41780
NM_001355436.2(SPTB):c.4860T>C (p.Ile1620=) rs229592 0.41773
NM_138477.4(CDAN1):c.3474A>C (p.Leu1158=) rs16957091 0.41429
NM_138477.4(CDAN1):c.320A>T (p.Gln107Leu) rs4265781 0.41423
NM_138477.4(CDAN1):c.*142A>G rs3742987 0.41378
NM_000637.5(GSR):c.696-10C>T rs8190996 0.41377
NM_000375.3(UROS):c.-185G>A rs4256900 0.41165
NM_003126.4(SPTA1):c.2874G>A (p.Leu958=) rs857691 0.40606
NM_001355436.2(SPTB):c.4293A>G (p.Arg1431=) rs1626923 0.40570
NM_138477.4(CDAN1):c.1787A>G (p.Gln596Arg) rs12917189 0.40225
NM_138477.4(CDAN1):c.*214T>C rs3742988 0.39766
NM_001355436.2(SPTB):c.3451A>G (p.Asn1151Asp) rs77806 0.38794
NM_001142864.4(PIEZO1):c.1219A>G (p.Arg407Gly) rs13333358 0.38670
NM_000037.4(ANK1):c.909+36A>G rs7826127 0.38387
NM_001355436.2(SPTB):c.876+5A>G rs230703 0.36832
NM_001355436.2(SPTB):c.648-49G>A rs230704 0.36676
NM_001360016.2(G6PD):c.*357= rs1050757 0.36655
G6PD:c.1455-13T>C rs2071429 0.36538
NM_000188.3(HK1):c.78C>G (p.Leu26=) rs1133189 0.36523
NM_000342.4(SLC4A1):c.*333C>A rs2072081 0.36187
NM_006563.5(KLF1):c.304T>C (p.Ser102Pro) rs2072597 0.36000
NM_000298.6(PKLR):c.*1040G>A rs8847 0.35054
NM_000298.6(PKLR):c.*267C>T rs932972 0.35051
NM_000298.6(PKLR):c.1705C>A (p.Arg569=) rs1052176 0.35034
NM_001355436.2(SPTB):c.4474-42C>T rs1741486 0.34516
NM_001355436.2(SPTB):c.4476T>C (p.Leu1492=) rs1741487 0.34432
NM_001355436.2(SPTB):c.4482G>A (p.Val1494=) rs1741488 0.34424
NM_001355436.2(SPTB):c.4641G>A (p.Ala1547=) rs184528 0.34399
NM_003126.4(SPTA1):c.5292C>A (p.Ala1764=) rs3738791 0.34201
NM_003126.4(SPTA1):c.4195-12G>A rs6702040 0.34186
NM_138477.4(CDAN1):c.2352+8C>T rs12594483 0.34139
NM_003126.4(SPTA1):c.5958C>T (p.Pro1986=) rs3753068 0.33588
NM_006363.6(SEC23B):c.1744-20T>A rs3736775 0.33572
NM_003126.4(SPTA1):c.1350+14A>T rs703116 0.31859
NM_001142864.4(PIEZO1):c.63T>G (p.Ala21=) rs2911442 0.30977
NM_006363.6(SEC23B):c.834+41G>A rs1555353 0.30830
NM_000289.5(PFKM):c.-112T>G rs12306290 0.29895
NM_000289.6(PFKM):c.428-39G>A rs2269933 0.29774
NM_001142864.4(PIEZO1):c.2329+19G>A rs2306050 0.28823
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716 0.28514
NM_003126.4(SPTA1):c.3570-37T>A rs11265044 0.26469
NM_138477.4(CDAN1):c.477C>T (p.Pro159=) rs7167392 0.26335
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) rs3816873 0.26064
NM_000253.3(MTTP):c.-241G>A rs11944752 0.26041
NM_138477.4(CDAN1):c.2671C>T (p.Arg891Cys) rs8023524 0.25780
NM_003126.4(SPTA1):c.*167A>G rs3768535 0.25502
NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val) rs3737515 0.25425
NM_001355436.2(SPTB):c.300+23C>T rs1353857 0.25252
NM_001142864.4(PIEZO1):c.6793A>G (p.Ile2265Val) rs1803382 0.25214
NM_001355436.2(SPTB):c.1269G>A (p.Leu423=) rs229586 0.25102
NM_138477.4(CDAN1):c.2408-3C>T rs12905385 0.24113
NM_003126.4(SPTA1):c.2493T>G (p.Leu831=) rs2518493 0.24070
NM_000037.4(ANK1):c.315C>T (p.Asn105=) rs2304871 0.23757
NM_003126.4(SPTA1):c.5077A>C (p.Lys1693Gln) rs857725 0.23548
NM_006516.4(SLC2A1):c.-197A>C rs11537640 0.23186
NM_006516.2(SLC2A1):c.-390delA rs28365848 0.23160
NM_001142864.4(PIEZO1):c.4775+31G>T rs3816618 0.22643
NM_001142864.4(PIEZO1):c.4193C>T (p.Pro1398Leu) rs11645197 0.22515
NM_001142864.4(PIEZO1):c.5569C>T (p.Pro1857Ser) rs35159887 0.22508
NM_001142864.4(PIEZO1):c.465+8C>T rs2242164 0.22253
NM_003126.4(SPTA1):c.3570-12C>T rs2246434 0.22246
NM_001166686.2(PFKM):c.5A>T (p.His2Leu) rs11609399 0.21767
NM_000037.4(ANK1):c.5265G>A (p.Val1755=) rs750625 0.21708
NM_006516.4(SLC2A1):c.45C>T (p.Ala15=) rs1385129 0.21537
NM_000037.4(ANK1):c.2349C>T (p.Thr783=) rs2304880 0.21375
NM_000037.4(ANK1):c.2073C>T (p.Gly691=) rs1137177 0.21318
NM_001142864.4(PIEZO1):c.635-8C>T rs11076706 0.20777
NM_001142864.4(PIEZO1):c.466-39C>T rs7185630 0.20717
NM_001142864.4(PIEZO1):c.3796+22G>A rs2247261 0.20320
NM_001142864.4(PIEZO1):c.1997+32C>T rs3214056 0.19512
NM_000289.6(PFKM):c.639-85T>C rs2286020 0.19143
NM_000289.6(PFKM):c.516C>T (p.Thr172=) rs1049392 0.18973
NM_000037.4(ANK1):c.4101C>T (p.Ala1367=) rs7816734 0.18067
NM_006516.4(SLC2A1):c.399C>T (p.Cys133=) rs11537641 0.16943
NM_000289.6(PFKM):c.2093-14A>G rs11168427 0.16418
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500 0.16379
NM_000289.6(PFKM):c.-8-86G>T rs2269935 0.16268
NM_000253.3(MTTP):c.-252G>C rs11944749 0.15525
NM_000175.5(GPI):c.489A>G (p.Gly163=) rs1801015 0.14862
NM_001042351.2(G6PD):c.-111A>G rs111827785 0.14433
NM_001142864.4(PIEZO1):c.2992-23A>G rs76070043 0.14300
NM_006516.2(SLC2A1):c.-490G>C rs3754226 0.14227
NM_001243177.4(ALDOA):c.1161+17G>T rs2071390 0.13976
NM_006363.6(SEC23B):c.1467C>G (p.His489Gln) rs2273526 0.12707
NM_001386140.1(MTTP):c.522T>C (p.Cys174=) rs982424 0.12209
NM_001386140.1(MTTP):c.969T>C (p.Ala323=) rs17533489 0.10642
NM_000037.4(ANK1):c.597G>A (p.Pro199=) rs2304873 0.10581
NM_001360016.2(G6PD):c.121-135A>G rs762515 0.10367
NM_006363.6(SEC23B):c.1298C>T (p.Pro433Leu) rs17807673 0.10334
NM_003126.4(SPTA1):c.*276T>C rs12128275 0.10237
NC_000012.12:g.6867524A>G rs1800200 0.09809
NM_000175.5(GPI):c.762G>A (p.Lys254=) rs1864139 0.09803
NM_001360016.2(G6PD):c.864+163C>T rs5986990 0.09646
NM_003126.4(SPTA1):c.2757A>G (p.Glu919=) rs16840450 0.09495
NM_003126.4(SPTA1):c.2558C>G (p.Thr853Arg) rs35121052 0.09487
NM_003126.4(SPTA1):c.2425A>G (p.Ile809Val) rs7547313 0.09176
NM_006363.6(SEC23B):c.1405-7C>T rs2273525 0.09089
NM_001386140.1(MTTP):c.294G>C (p.Glu98Asp) rs2306986 0.08726
NM_000365.6(TPI1):c.*420T>C rs58194764 0.08694
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_001386140.1(MTTP):c.497A>G (p.Asn166Ser) rs3792683 0.08314
NM_001386140.1(MTTP):c.*183C>T rs74542928 0.08278
NM_001386140.1(MTTP):c.*862C>A rs6832927 0.08274
NM_003126.4(SPTA1):c.2102G>A (p.Arg701His) rs12090314 0.08273
NM_001386140.1(MTTP):c.*506A>G rs6832119 0.08272
NM_000637.5(GSR):c.261T>C (p.Gly87=) rs2280855 0.07666
NM_001386140.1(MTTP):c.39C>G (p.Ser13=) rs7667001 0.07507
NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala) rs17029215 0.07361
NM_001386140.1(MTTP):c.933C>A (p.Thr311=) rs17029213 0.07360
NM_001386140.1(MTTP):c.1769+9C>T rs34734558 0.07357
NM_006516.4(SLC2A1):c.966C>T (p.Val322=) rs2229680 0.06553
NM_138477.4(CDAN1):c.3153G>A (p.Glu1051=) rs28661826 0.06415
NM_138477.4(CDAN1):c.3450+11C>T rs56046122 0.06311
NM_000289.6(PFKM):c.427+52G>A rs41291961 0.06210
NM_000289.6(PFKM):c.246G>A (p.Thr82=) rs2228501 0.06196
NM_138477.4(CDAN1):c.816C>A (p.Thr272=) rs76599133 0.06184
NM_000289.6(PFKM):c.1880+32G>C rs4075914 0.06152
NM_138477.4(CDAN1):c.443C>T (p.Ala148Val) rs73410959 0.06134
NM_138477.4(CDAN1):c.558C>G (p.Pro186=) rs12594325 0.05980
NM_003126.4(SPTA1):c.6046C>T (p.Arg2016Cys) rs78394850 0.05585
NM_006563.5(KLF1):c.*277C>T rs16978757 0.05559
NM_003126.4(SPTA1):c.5992G>C (p.Ala1998Pro) rs77877855 0.05556
NM_006563.5(KLF1):c.*296G>A rs16978754 0.05553
NM_003126.4(SPTA1):c.6112C>T (p.Leu2038=) rs75931146 0.05545
NM_003126.4(SPTA1):c.5507A>G (p.Asn1836Ser) rs16830483 0.05541
NM_000342.4(SLC4A1):c.*349G>A rs1465204 0.05293
NM_000342.4(SLC4A1):c.1323G>A (p.Leu441=) rs5017 0.05230
NM_001114134.2(EPB42):c.833-4A>G rs61343376 0.05117
NM_001114134.2(EPB42):c.-51T>C rs16957499 0.05107
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu) rs5036 0.05002
NM_001386140.1(MTTP):c.285G>C (p.Gln95His) rs61733139 0.04959
NM_000037.4(ANK1):c.1856G>A (p.Arg619His) rs2304877 0.04842
NG_012820.2(ANK1):g.104117T>C rs77173848 0.04675
NM_000037.4(ANK1):c.*1609C>G rs78203311 0.04627
NM_000037.4(ANK1):c.*238T>C rs72638944 0.04617
NM_000037.4(ANK1):c.*1899G>A rs72638943 0.04611
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=) rs2228490 0.04552
NM_006563.5(KLF1):c.544T>C (p.Phe182Leu) rs2072596 0.04509
NM_000037.4(ANK1):c.450A>G (p.Val150=) rs6982971 0.04455
NM_000342.4(SLC4A1):c.*270G>A rs5027 0.04383
NM_000037.4(ANK1):c.909+7A>G rs17661203 0.04301
NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile) rs41309927 0.04225
NM_000037.4(ANK1):c.612+18G>C rs57815524 0.04206
NM_000037.4(ANK1):c.3486C>T (p.Ser1162=) rs35964634 0.04182
NM_000037.4(ANK1):c.3973A>G (p.Met1325Val) rs10093583 0.04068
NM_000324.3(RHAG):c.808G>A (p.Val270Ile) rs16879498 0.04007
NM_000637.5(GSR):c.189C>T (p.Ala63=) rs2280854 0.03974
NM_001386140.1(MTTP):c.1769+14C>T rs41275713 0.03960
NM_001386140.1(MTTP):c.730C>G (p.Gln244Glu) rs17599091 0.03958
NM_001114134.2(EPB42):c.330G>A (p.Ala110=) rs1042168 0.03903
NM_000037.4(ANK1):c.1320G>A (p.Pro440=) rs28533718 0.03824
NM_003126.4(SPTA1):c.454G>A (p.Asp152Asn) rs16840544 0.03495
NM_003126.4(SPTA1):c.867T>C (p.Ser289=) rs12083637 0.03494
NC_000012.12:g.6867521G>A rs1800201 0.03488
NM_003126.4(SPTA1):c.2909C>A (p.Ala970Asp) rs35948326 0.03419
NM_001360016.2(G6PD):c.1116G>A (p.Gln372=) rs2230036 0.03373
NM_006363.6(SEC23B):c.2061G>T (p.Leu687=) rs7262532 0.03235
NM_003126.4(SPTA1):c.2870C>T (p.Ala957Val) rs34706737 0.03142
NM_000342.4(SLC4A1):c.1249C>T (p.Leu417=) rs5015 0.03061
NM_000037.4(ANK1):c.5395-1147C>G rs112350393 0.03054
NM_001002010.5(NT5C3A):c.139-9046T>C rs17170223 0.03046
NM_000342.4(SLC4A1):c.2584G>A (p.Val862Ile) rs5026 0.02980
NM_000637.5(GSR):c.457C>T (p.Arg153Cys) rs8190955 0.02941
NM_001114134.2(EPB42):c.10+19C>T rs77809780 0.02853
NM_000342.4(SLC4A1):c.113A>C (p.Asp38Ala) rs5035 0.02695
NM_000365.6(TPI1):c.544-10C>G rs115061797 0.02638
NM_000476.3(AK1):c.367G>C (p.Glu123Gln) rs8192462 0.02507
NM_003126.4(SPTA1):c.5388G>A (p.Gln1796=) rs61140046 0.02445
NM_001360016.2(G6PD):c.1431C>T (p.Pro477=) rs77214077 0.02424
NM_001386140.1(MTTP):c.*113G>C rs112407688 0.02360
NM_001386140.1(MTTP):c.1981G>A (p.Gly661Ser) rs113337987 0.02355
NM_001386140.1(MTTP):c.660T>C (p.Tyr220=) rs113557405 0.02353
NM_000037.4(ANK1):c.1782C>A (p.Ser594=) rs61753679 0.02349
NM_000365.6(TPI1):c.631+13G>A rs60115912 0.02344
NM_138477.4(CDAN1):c.2174+20G>A rs75993383 0.02307
NM_003126.4(SPTA1):c.958-10C>A rs12085628 0.02300
NM_003126.4(SPTA1):c.2418G>A (p.Glu806=) rs35318623 0.02245
NM_003126.4(SPTA1):c.3693C>T (p.Asp1231=) rs34773716 0.02215
NM_000342.4(SLC4A1):c.*1721G>A rs62078947 0.02193
NM_001002010.5(NT5C3A):c.408T>C (p.Thr136=) rs72555744 0.02171
NM_138477.4(CDAN1):c.1969G>A (p.Gly657Ser) rs61747153 0.02138
NM_138477.4(CDAN1):c.2948-13C>T rs117946783 0.02118
NM_000037.4(ANK1):c.*2022G>A rs112447985 0.02108
NM_000037.4(ANK1):c.4385C>T (p.Ala1462Val) rs34664882 0.02105
NM_000037.4(ANK1):c.4506C>T (p.Arg1502=) rs34265667 0.02104
NM_000175.5(GPI):c.122+20G>A rs8191360 0.02067
NM_000637.5(GSR):c.334-4dup rs112134304 0.02050
NM_000289.6(PFKM):c.1500+32C>T rs41291967 0.02028
NM_006563.5(KLF1):c.115A>C (p.Met39Leu) rs112631212 0.02025
NM_000342.4(SLC4A1):c.*897G>A rs5030 0.02004
NM_000289.6(PFKM):c.1342-14G>T rs56117548 0.01990
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507 0.01954
NM_000037.4(ANK1):c.3327+21C>G rs61207451 0.01947
NM_000342.4(SLC4A1):c.2688T>C (p.Asp896=) rs45497993 0.01896
NM_000342.4(SLC4A1):c.2712C>T (p.Tyr904=) rs45519733 0.01857
NM_001114134.2(EPB42):c.654+7G>A rs72721553 0.01821
NM_000637.5(GSR):c.43A>G (p.Ser15Gly) rs144194626 0.01737
NM_003126.4(SPTA1):c.4453C>T (p.Leu1485Phe) rs34973695 0.01729
NM_003126.4(SPTA1):c.2472C>T (p.Asp824=) rs35856400 0.01721
NM_000342.4(SLC4A1):c.924G>A (p.Leu308=) rs5013 0.01720
NM_000188.3(HK1):c.1031+6T>C rs57012387 0.01704
NM_001386140.1(MTTP):c.*279C>G rs115807483 0.01703
NM_000476.3(AK1):c.517-18C>T rs7031929 0.01694
NM_001002010.5(NT5C3A):c.440+9A>G rs72555745 0.01691
NM_006516.4(SLC2A1):c.-190G>C rs114514007 0.01675
NM_000476.3(AK1):c.186G>A (p.Glu62=) rs61742069 0.01671
NM_000342.4(SLC4A1):c.*408C>T rs45555735 0.01626
NM_003126.4(SPTA1):c.2353C>A (p.Arg785=) rs2022057 0.01562
NM_001142864.4(PIEZO1):c.555C>T (p.Ala185=) rs115481622 0.01551
NM_000342.4(SLC4A1):c.1770G>A (p.Lys590=) rs35807245 0.01536
NM_001114134.2(EPB42):c.1318+4C>T rs45498491 0.01529
NM_000175.5(GPI):c.948C>A (p.Ala316=) rs8191416 0.01510
NM_000037.4(ANK1):c.3224C>T (p.Thr1075Ile) rs35213384 0.01414
NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly) rs141736123 0.01357
NM_000342.4(SLC4A1):c.16-14G>A rs145502796 0.01351
NM_000037.4(ANK1):c.4008G>A (p.Pro1336=) rs147536061 0.01340
NM_000342.4(SLC4A1):c.1878T>C (p.Asp626=) rs5020 0.01332
NM_003126.4(SPTA1):c.4490G>A (p.Gly1497Glu) rs41273523 0.01332
NM_000037.4(ANK1):c.*1402G>T rs116137861 0.01314
NM_003126.4(SPTA1):c.2520G>C (p.Glu840Asp) rs34577746 0.01305
NM_000037.4(ANK1):c.654C>A (p.Asn218Lys) rs61735313 0.01280
NM_003126.4(SPTA1):c.3171G>A (p.Gln1057=) rs35078963 0.01270
NM_000037.4(ANK1):c.2970C>T (p.Ile990=) rs34969689 0.01218
NM_138477.4(CDAN1):c.157C>T (p.Leu53=) rs186189866 0.01218
NM_000037.4(ANK1):c.2211C>G (p.Pro737=) rs34194642 0.01217
NM_000037.4(ANK1):c.183G>C (p.Val61=) rs61753680 0.01208
NM_000037.4(ANK1):c.3813G>A (p.Glu1271=) rs16890758 0.01205
NM_006363.6(SEC23B):c.-24C>T rs115614151 0.01204
NM_000365.6(TPI1):c.544-14G>A rs72661109 0.01198
NM_006516.4(SLC2A1):c.19-207T>C rs41310434 0.01173
NM_000365.6(TPI1):c.*341C>T rs1804544 0.01157
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031 0.01150
NM_138477.4(CDAN1):c.1968C>T (p.Thr656=) rs61742992 0.01147
NM_000037.4(ANK1):c.2296-20C>T rs73619321 0.01143
NM_138477.4(CDAN1):c.2445C>T (p.Gly815=) rs114208791 0.01142
NM_000037.4(ANK1):c.489C>T (p.Leu163=) rs34173100 0.01106
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_006516.4(SLC2A1):c.973-17A>G rs111596088 0.01025
NM_006363.6(SEC23B):c.770C>T (p.Thr257Ile) rs146917730 0.01006
NM_000342.4(SLC4A1):c.2100C>T (p.Ser700=) rs5024 0.01001
NM_000637.5(GSR):c.41C>A (p.Pro14Gln) rs192256606 0.00981
NM_001376013.1(EPB41):c.2314-19G>C rs41266199 0.00973
NM_003126.4(SPTA1):c.3989G>T (p.Arg1330Ile) rs34214405 0.00972
NM_003126.4(SPTA1):c.6559A>G (p.Lys2187Glu) rs111980420 0.00939
NM_003126.4(SPTA1):c.6530+15A>T rs78561085 0.00935
NM_001360016.2(G6PD):c.645-17C>T rs5986875 0.00915
NM_000289.6(PFKM):c.*282C>T rs8977 0.00906
NM_000342.4(SLC4A1):c.1239C>T (p.Tyr413=) rs5014 0.00887
NM_001002010.5(NT5C3A):c.139-4T>G rs72555736 0.00862
NM_001376013.1(EPB41):c.1464-20T>C rs139715164 0.00835
NM_000476.3(AK1):c.102C>T (p.Tyr34=) rs61741075 0.00832
NM_001243177.4(ALDOA):c.542-16C>A rs78124282 0.00797
NM_000342.4(SLC4A1):c.*335G>A rs13306777 0.00773
NM_006363.6(SEC23B):c.834+116A>G rs113825530 0.00772
NM_006363.6(SEC23B):c.1743+168A>G rs111951711 0.00771
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile) rs61750974 0.00763
NM_000476.3(AK1):c.8-376C>T rs116301334 0.00725
NM_006363.6(SEC23B):c.*657A>G rs114937628 0.00723
NM_001376013.1(EPB41):c.2019G>A (p.Lys673=) rs79677225 0.00718
NM_003126.4(SPTA1):c.1533A>G (p.Ala511=) rs34446973 0.00709
NM_006363.6(SEC23B):c.1503C>T (p.Ile501=) rs147036760 0.00699
NM_001386140.1(MTTP):c.*267A>C rs79992570 0.00692
NM_003126.4(SPTA1):c.3149C>T (p.Pro1050Leu) rs116297260 0.00678
NM_006363.6(SEC23B):c.1484G>A (p.Arg495His) rs141588462 0.00677
NM_006363.6(SEC23B):c.816T>C (p.Ile272=) rs115177758 0.00677
NM_000037.4(ANK1):c.1590C>T (p.Ala530=) rs61758865 0.00673
NM_001376013.1(EPB41):c.24G>A (p.Val8=) rs75060926 0.00648
NM_000037.4(ANK1):c.*774A>G rs142696529 0.00636
NM_138477.4(CDAN1):c.2700G>A (p.Gln900=) rs61745640 0.00622
NM_001386140.1(MTTP):c.*588A>G rs184236038 0.00619
NM_006363.6(SEC23B):c.490G>T (p.Val164Leu) rs36023150 0.00602
NM_000037.4(ANK1):c.1999-17C>T rs28571216 0.00543
NM_000342.4(SLC4A1):c.1953C>T (p.His651=) rs5021 0.00529
NM_001386140.1(MTTP):c.*796C>T rs551084925 0.00527
NM_006516.4(SLC2A1):c.417C>T (p.Phe139=) rs144538918 0.00517
NM_000365.6(TPI1):c.*39G>A rs12692 0.00504
NM_000375.3(UROS):c.*37G>T rs372132511 0.00489
NM_138477.4(CDAN1):c.906G>A (p.Leu302=) rs61745955 0.00486
NM_006363.6(SEC23B):c.1649G>A (p.Arg550Gln) rs111572459 0.00474
NM_001376013.1(EPB41):c.871C>T (p.Pro291Ser) rs142874233 0.00467
NM_000037.4(ANK1):c.3399C>T (p.Thr1133=) rs117516263 0.00465
NM_000365.6(TPI1):c.600G>A (p.Ala200=) rs61747602 0.00452
NM_001142864.4(PIEZO1):c.2865G>A (p.Gln955=) rs35597347 0.00444
NM_000037.4(ANK1):c.3033C>T (p.Ser1011=) rs61758866 0.00422
NM_001386140.1(MTTP):c.2043G>A (p.Glu681=) rs145444300 0.00389
NM_006363.6(SEC23B):c.1404+20_1404+21del rs369173250 0.00378
NM_000037.4(ANK1):c.2403G>A (p.Lys801=) rs147130318 0.00376
NM_000375.3(UROS):c.338A>T (p.Asp113Val) rs117926090 0.00376
NM_000037.4(ANK1):c.2735+10G>A rs75296105 0.00374
NM_001243177.4(ALDOA):c.411A>G (p.Thr137=) rs76767223 0.00362
NM_000342.4(SLC4A1):c.216G>T (p.Glu72Asp) rs13306788 0.00342
NM_006363.6(SEC23B):c.221+76A>G rs183784857 0.00333
NM_006363.6(SEC23B):c.1666-148G>C rs116352690 0.00329
NM_006363.6(SEC23B):c.835-7A>G rs184484121 0.00317
NM_001002010.5(NT5C3A):c.861G>A (p.Glu287=) rs72555746 0.00310
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His) rs147390654 0.00294
NM_001386140.1(MTTP):c.1731C>T (p.Ala577=) rs112506924 0.00290
NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu) rs2285644 0.00284
NM_006363.6(SEC23B):c.993+19G>A rs144225458 0.00281
NM_001386140.1(MTTP):c.-6G>A rs41275707 0.00276
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=) rs138198461 0.00271
NM_000037.4(ANK1):c.5097-34C>T rs185434561 0.00261
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser) rs138824667 0.00256
NM_000037.4(ANK1):c.981C>T (p.Tyr327=) rs61758867 0.00253
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513 0.00243
NM_001386140.1(MTTP):c.2673C>T (p.Ser891=) rs115222767 0.00236
NM_006363.6(SEC23B):c.367-17T>C rs77096313 0.00235
NM_006363.6(SEC23B):c.2298C>T (p.Ala766=) rs77945587 0.00228
NM_006363.6(SEC23B):c.689+10C>T rs200020725 0.00220
NM_006563.5(KLF1):c.311C>T (p.Ala104Val) rs182276666 0.00210
NM_000289.6(PFKM):c.2199-12A>G rs202008060 0.00204
NM_000342.4(SLC4A1):c.1314G>A (p.Ser438=) rs13306781 0.00193
NM_000289.6(PFKM):c.702A>T (p.Pro234=) rs138022863 0.00185
NM_006563.5(KLF1):c.325C>T (p.Pro109Ser) rs117351327 0.00179
NM_006363.6(SEC23B):c.993+10C>G rs201948587 0.00173
NM_006563.5(KLF1):c.*22T>A rs149022596 0.00172
NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser) rs61733140 0.00170
NM_003126.4(SPTA1):c.748C>T (p.Arg250Cys) rs143459302 0.00169
NM_001114134.2(EPB42):c.430+12C>T rs185794093 0.00155
NM_138477.4(CDAN1):c.386G>A (p.Arg129His) rs12441516 0.00155
NM_000037.4(ANK1):c.2495G>A (p.Arg832Gln) rs34523608 0.00150
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe) rs144590904 0.00141
NM_000037.4(ANK1):c.5395-1162C>A rs145094714 0.00138
NM_000037.4(ANK1):c.5479-17T>C rs142836307 0.00138
NM_000342.4(SLC4A1):c.2716G>C (p.Glu906Gln) rs199694087 0.00128
NM_001243177.4(ALDOA):c.648C>G (p.Leu216=) rs112110009 0.00124
NM_000037.4(ANK1):c.3532+13C>A rs181905023 0.00122
NM_000365.6(TPI1):c.321T>C (p.Asp107=) rs141972556 0.00104
NM_032609.3(COX4I2):c.88G>C (p.Gly30Arg) rs148327783 0.00103
NM_000037.4(ANK1):c.3102C>T (p.Asn1034=) rs145169484 0.00101
NM_006363.6(SEC23B):c.66C>T (p.Asn22=) rs144542988 0.00098
NM_000375.3(UROS):c.-136C>T rs539482783 0.00096
NM_001360016.2(G6PD):c.1458-13C>G rs371772243 0.00093
NM_006563.5(KLF1):c.520G>T (p.Gly174Cys) rs566095433 0.00089
NM_006516.4(SLC2A1):c.680-12C>T rs150960456 0.00088
NM_001376013.1(EPB41):c.120A>G (p.Gln40=) rs146663694 0.00086
NM_001360016.2(G6PD):c.311G>A (p.Arg104His) rs181277621 0.00081
NM_006516.4(SLC2A1):c.*22G>A rs2229683 0.00081
NM_006516.4(SLC2A1):c.1170C>T (p.Ile390=) rs2236574 0.00081
NM_006563.5(KLF1):c.*254C>T rs564687827 0.00081
NM_000289.6(PFKM):c.453G>A (p.Thr151=) rs144370737 0.00071
NM_006516.4(SLC2A1):c.1372C>A (p.Arg458=) rs13306758 0.00070
NM_000289.6(PFKM):c.1004T>C (p.Val335Ala) rs201838518 0.00062
NM_001360016.2(G6PD):c.1245C>T (p.Pro415=) rs147131392 0.00062
NM_006516.4(SLC2A1):c.275+17C>T rs761669510 0.00061
NM_000037.4(ANK1):c.1467G>A (p.Leu489=) rs148165519 0.00057
NM_006563.5(KLF1):c.629C>G (p.Pro210Arg) rs530729436 0.00040
NM_006563.5(KLF1):c.*454C>G rs538356283 0.00035
NM_000037.4(ANK1):c.3668T>C (p.Val1223Ala) rs185516533 0.00033
NM_000365.6(TPI1):c.*388C>T rs540279409 0.00031
NM_001386140.1(MTTP):c.111G>A (p.Thr37=) rs147921439 0.00028
NM_000037.4(ANK1):c.675C>T (p.Leu225=) rs146507999 0.00026
NM_006563.5(KLF1):c.541T>A (p.Tyr181Asn) rs547785696 0.00024
NM_138477.4(CDAN1):c.3524G>A (p.Cys1175Tyr) rs192268080 0.00024
NM_001243177.4(ALDOA):c.973C>T (p.Leu325=) rs111252736 0.00022
NM_000037.4(ANK1):c.499G>C (p.Gly167Arg) rs201024919 0.00021
NM_001360016.2(G6PD):c.486-14C>T rs200833520 0.00020
NM_000365.6(TPI1):c.116-12T>C rs369077745 0.00019
NM_001243177.4(ALDOA):c.1068C>T (p.Tyr356=) rs200761497 0.00019
NM_001360016.2(G6PD):c.864+17A>T rs377041776 0.00019
NM_000289.6(PFKM):c.844-17T>A rs372870462 0.00018
NM_001360016.2(G6PD):c.381C>T (p.Ala127=) rs781997962 0.00017
NM_006516.4(SLC2A1):c.138G>C (p.Gln46His) rs149998596 0.00014
NM_006563.5(KLF1):c.803G>T (p.Arg268Leu) rs199685739 0.00014
NM_006363.6(SEC23B):c.1993-16G>A rs375390042 0.00013
NM_006516.4(SLC2A1):c.517-18G>A rs372553463 0.00013
NM_001360016.2(G6PD):c.519C>T (p.Phe173=) rs200111236 0.00010
NM_001386140.1(MTTP):c.95G>A (p.Arg32Gln) rs199537553 0.00010
NM_000289.6(PFKM):c.2040C>T (p.Gly680=) rs369893708 0.00009
NM_006516.4(SLC2A1):c.-26G>C rs375001117 0.00009
NM_001360016.2(G6PD):c.120+7A>C rs369904290 0.00008
NM_006516.4(SLC2A1):c.258C>T (p.Phe86=) rs147319894 0.00007
NM_006563.5(KLF1):c.*185G>A rs137908457 0.00007
NM_006516.4(SLC2A1):c.19-12G>A rs372344816 0.00006
NM_006516.4(SLC2A1):c.19-5C>T rs376653618 0.00006
NM_001142864.4(PIEZO1):c.6679G>A (p.Ala2227Thr) rs776039915 0.00005
NM_001360016.2(G6PD):c.690C>T (p.Ile230=) rs781917123 0.00005
NM_006516.4(SLC2A1):c.276-9C>T rs529579952 0.00005
NM_006563.5(KLF1):c.757G>A (p.Glu253Lys) rs757861047 0.00005
NM_000037.4(ANK1):c.2688C>T (p.Thr896=) rs377333429 0.00004
NM_000289.6(PFKM):c.468G>C (p.Leu156=) rs772301967 0.00004
NM_000342.4(SLC4A1):c.*135G>A rs566741511 0.00004
NM_006516.4(SLC2A1):c.276-19C>T rs74945664 0.00004
NM_001386140.1(MTTP):c.2320T>G (p.Ser774Ala) rs148362467 0.00003
NM_000289.6(PFKM):c.1467C>T (p.Asn489=) rs753681797 0.00002
NM_001360016.2(G6PD):c.477G>C (p.Met159Ile) rs370918918 0.00002
NM_006516.4(SLC2A1):c.1278+9C>G rs550156548 0.00002
NM_138477.4(CDAN1):c.2750T>G (p.Ile917Ser) rs529452785 0.00002
NM_000037.4(ANK1):c.237C>T (p.Asn79=) rs372696694 0.00001
NM_000289.6(PFKM):c.1401T>C (p.Leu467=) rs554664722 0.00001
NM_000289.6(PFKM):c.888G>A (p.Leu296=) rs753083173 0.00001
NM_005689.4(ABCB6):c.1511T>C (p.Val504Ala) rs763768429 0.00001
NM_006363.6(SEC23B):c.773A>G (p.Gln258Arg) rs534770840 0.00001
NM_006563.5(KLF1):c.286C>T (p.Leu96=) rs748056490 0.00001
NC_000020.11:g.18507416A>G
NM_000037.4(ANK1):c.*36+989dup rs59908561
NM_000037.4(ANK1):c.*385del rs112209933
NM_000037.4(ANK1):c.1624G>A (p.Val542Met)
NM_000037.4(ANK1):c.2913G>C (p.Leu971=) rs504574
NM_000037.4(ANK1):c.3115+9G>A rs150850103
NM_000037.4(ANK1):c.4538-52G>C rs499295
NM_000037.4(ANK1):c.5395-1286C>T
NM_000037.4(ANK1):c.813C>T (p.Asp271=)
NM_000175.5(GPI):c.1356G>C (p.Ala452=) rs34604585
NM_000175.5(GPI):c.751-5dup rs375313737
NM_000289.6(PFKM):c.*163G>A rs370250637
NM_000289.6(PFKM):c.1063-5del
NM_000289.6(PFKM):c.1063-5dup
NM_000289.6(PFKM):c.1341+8del rs2135995386
NM_000289.6(PFKM):c.1413-19G>A
NM_000289.6(PFKM):c.1413-58C>A rs78496902
NM_000289.6(PFKM):c.1881-17del
NM_000289.6(PFKM):c.1992+14C>A
NM_000289.6(PFKM):c.2092+10del
NM_000289.6(PFKM):c.638+161C>T rs2286021
NM_000289.6(PFKM):c.85+22dup
NM_000298.6(PKLR):c.*13T>C rs1052177
NM_000298.6(PKLR):c.375+10G>T rs8177971
NM_000375.3(UROS):c.512T>G (p.Val171Gly) rs17173752
NM_000476.3(AK1):c.516+11C>A rs115263629
NM_001002010.5(NT5C3A):c.139-9060del rs143513903
NM_001142864.4(PIEZO1):c.1195+36dup rs66881450
NM_001142864.4(PIEZO1):c.1557+16C>G rs734918
NM_001142864.4(PIEZO1):c.3699+20G>C rs4424896
NM_001142864.4(PIEZO1):c.3969-5T>C rs4782429
NM_001142864.4(PIEZO1):c.5538C>G (p.Ala1846=) rs8043924
NM_001142864.4(PIEZO1):c.5629AAG[1] (p.Lys1878del) rs3217718
NM_001142864.4(PIEZO1):c.5802-27G>A rs4401037
NM_001142864.4(PIEZO1):c.7316+21del rs3214887
NM_001142864.4(PIEZO1):c.848+17C>T rs8060643
NM_001243177.4(ALDOA):c.486+17C>G rs78209292
NM_001243177.4(ALDOA):c.961+17T>C rs566755208
NM_001355436.2(SPTB):c.4563+12G>C rs1741489
NM_001358263.1(HK1):c.75+23T>C rs4746837
NM_001360016.2(G6PD):c.120+199dup rs781893284
NM_001360016.2(G6PD):c.120+2955A>G
NM_001360016.2(G6PD):c.120+3126T>C
NM_001360016.2(G6PD):c.121-1792T>C
NM_001360016.2(G6PD):c.121-1813del
NM_001360016.2(G6PD):c.121-2107T>C
NM_001360016.2(G6PD):c.121-2679C>G
NM_001360016.2(G6PD):c.121-4460del
NM_001360016.2(G6PD):c.1288-14TC[2] rs199586268
NM_001360016.2(G6PD):c.1311= (p.Tyr437=) rs2230037
NM_001360016.2(G6PD):c.1311T>C (p.Tyr437=) rs2230037
NM_001360016.2(G6PD):c.1398C>T (p.Thr466=) rs398123547
NM_001360016.2(G6PD):c.486-34del rs3216174
NM_001360016.2(G6PD):c.645-8_645-5del rs782160396
NM_001360016.2(G6PD):c.[1116G>A;1311=]
NM_001376013.1(EPB41):c.2577C>T (p.Thr859=) rs536178
NM_001386140.1(MTTP):c.1715A>G (p.Asn572Ser) rs772602972
NM_001386140.1(MTTP):c.490A>G (p.Thr164Ala) rs563558722
NM_003126.4(SPTA1):c.25-25G>T rs2564859
NM_003126.4(SPTA1):c.6549-12G>A rs857716
NM_003126.4(SPTA1):c.6789-19dup rs5778083
NM_003126.4(SPTA1):c.6789-8del rs5778083
NM_006363.6(SEC23B):c.*318dup rs397793825
NM_006363.6(SEC23B):c.1110-13dup
NM_006363.6(SEC23B):c.1233+25dup rs57738665
NM_006363.6(SEC23B):c.1744-17G>A
NM_006363.6(SEC23B):c.604-4del
NM_006363.6(SEC23B):c.604-4dup rs750339397
NM_006363.6(SEC23B):c.604-5_604-4dup rs750339397
NM_006363.6(SEC23B):c.604-6_604-4del
NM_006516.4(SLC2A1):c.1011C>T (p.His337=) rs2229681
NM_006516.4(SLC2A1):c.1278+12del rs368437445
NM_006516.4(SLC2A1):c.1278+31_1278+32insCTCACCATTT rs2124446051
NM_006516.4(SLC2A1):c.588G>A (p.Pro196=) rs2229682
NM_006516.4(SLC2A1):c.679+7G>C rs13306757
NM_006516.4(SLC2A1):c.679+7G>T rs13306757
NM_006563.5(KLF1):c.*291A>G rs531279487

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