ClinVar Miner

List of variants reported as benign for hematologic disorder by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 310
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HGVS dbSNP gnomAD frequency
NM_000476.3(AK1):c.477T>C (p.Pro159=) rs913986 0.99820
NM_000037.4(ANK1):c.5096+16T>C rs508112 0.97818
NM_014915.3(ANKRD26):c.59A>G (p.Gln20Arg) rs7897309 0.90221
NM_001081.4(CUBN):c.2791+130G>A rs4747297 0.86168
NM_014915.3(ANKRD26):c.2376-16A>G rs7096505 0.83236
NM_000791.4(DHFR):c.-473T>C rs1650697 0.80068
NM_001770.6(CD19):c.520C>G (p.Leu174Val) rs2904880 0.76211
NM_000037.4(ANK1):c.5479-3T>C rs515071 0.75703
NM_001081.4(CUBN):c.8905+137T>A rs780847 0.75177
NM_001002010.5(NT5C3A):c.378T>C (p.Tyr126=) rs3750117 0.71939
NM_000355.4(TCN2):c.776G>C (p.Arg259Pro) rs1801198 0.63049
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_000637.5(GSR):c.696-10C>T rs8190996 0.41377
NM_138477.4(CDAN1):c.1787A>G (p.Gln596Arg) rs12917189 0.40225
NM_000057.4(BLM):c.2555+7T>C rs3815003 0.37072
NM_000559.3(HBG1):c.227C>T (p.Thr76Ile) rs1061234 0.35682
NM_138477.4(CDAN1):c.2352+8C>T rs12594483 0.34139
NM_001375808.2(LPIN2):c.1168+44T>C rs3826637 0.31167
NM_030943.4(AMN):c.1170-37C>G rs148815688 0.29891
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716 0.28514
NM_001375808.2(LPIN2):c.*3C>T rs3745012 0.26634
NM_138477.4(CDAN1):c.477C>T (p.Pro159=) rs7167392 0.26335
NM_138477.4(CDAN1):c.2671C>T (p.Arg891Cys) rs8023524 0.25780
NM_138477.4(CDAN1):c.2408-3C>T rs12905385 0.24113
NM_000037.4(ANK1):c.315C>T (p.Asn105=) rs2304871 0.23757
NM_014915.3(ANKRD26):c.624A>G (p.Val208=) rs2297145 0.22780
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_000037.4(ANK1):c.2349C>T (p.Thr783=) rs2304880 0.21375
NM_000037.4(ANK1):c.2073C>T (p.Gly691=) rs1137177 0.21318
NM_014915.3(ANKRD26):c.3913G>A (p.Val1305Ile) rs10829163 0.19017
NM_014915.3(ANKRD26):c.4542T>A (p.Phe1514Leu) rs2274741 0.19016
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_000057.4(BLM):c.3102G>A (p.Thr1034=) rs2227933 0.17570
NM_000289.6(PFKM):c.2093-14A>G rs11168427 0.16418
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500 0.16379
NM_000057.4(BLM):c.3945C>T (p.Leu1315=) rs1063147 0.15526
NM_000057.4(BLM):c.3531C>A (p.Ala1177=) rs2227934 0.15517
NM_000175.5(GPI):c.489A>G (p.Gly163=) rs1801015 0.14862
NM_001430.5(EPAS1):c.2296A>C (p.Thr766Pro) rs59901247 0.14073
NM_001243177.4(ALDOA):c.1161+17G>T rs2071390 0.13976
NM_000132.4(F8):c.1010-27G>A rs7058826 0.13707
NM_000037.4(ANK1):c.597G>A (p.Pro199=) rs2304873 0.10581
NC_000012.12:g.6867524A>G rs1800200 0.09809
NM_000175.5(GPI):c.762G>A (p.Lys254=) rs1864139 0.09803
NM_014915.3(ANKRD26):c.3972+3A>G rs72807627 0.08792
NM_001271696.3(ABCB7):c.1739C>T (p.Ala580Val) rs1340989 0.08733
NM_000057.4(BLM):c.3961G>A (p.Val1321Ile) rs7167216 0.08093
NM_006947.4(SRP72):c.1671A>G (p.Lys557=) rs34419325 0.08059
NM_004356.4(CD81):c.597C>T (p.Ser199=) rs14077 0.07917
NM_000637.5(GSR):c.261T>C (p.Gly87=) rs2280855 0.07666
NM_005050.4(ABCD4):c.176A>G (p.Gln59Arg) rs58272575 0.07062
NM_005050.4(ABCD4):c.383C>T (p.Ala128Val) rs61744947 0.06981
NM_005050.4(ABCD4):c.1533C>T (p.Gly511=) rs57773157 0.06977
NM_001430.5(EPAS1):c.780-15T>A rs17035079 0.06797
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935 0.06742
NM_138477.4(CDAN1):c.3153G>A (p.Glu1051=) rs28661826 0.06415
NM_005050.4(ABCD4):c.514G>A (p.Val172Ile) rs34992370 0.06330
NM_138477.4(CDAN1):c.3450+11C>T rs56046122 0.06311
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06272
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_138477.4(CDAN1):c.443C>T (p.Ala148Val) rs73410959 0.06134
NM_138477.4(CDAN1):c.558C>G (p.Pro186=) rs12594325 0.05980
NM_014915.3(ANKRD26):c.-140C>G rs41299222 0.05835
NM_001322934.2(NFKB2):c.2467-9T>A rs11574853 0.05268
NC_000014.9:g.105855041A>G rs10287 0.05231
NM_000355.4(TCN2):c.1196G>A (p.Arg399Gln) rs4820889 0.05200
NM_152866.3(MS4A1):c.216C>T (p.Ile72=) rs2070770 0.05151
NM_001114134.2(EPB42):c.833-4A>G rs61343376 0.05117
NM_001114134.2(EPB42):c.-51T>C rs16957499 0.05107
NM_000037.4(ANK1):c.1856G>A (p.Arg619His) rs2304877 0.04842
NC_000014.9:g.105855988G>C rs113762053 0.04825
NM_000037.4(ANK1):c.450A>G (p.Val150=) rs6982971 0.04455
NM_001430.5(EPAS1):c.2353C>A (p.Pro785Thr) rs61518065 0.04391
NM_000037.4(ANK1):c.909+7A>G rs17661203 0.04301
NM_001250.6(CD40):c.606C>T (p.Phe202=) rs7273698 0.04254
NM_000037.4(ANK1):c.612+18G>C rs57815524 0.04206
NM_000037.4(ANK1):c.3486C>T (p.Ser1162=) rs35964634 0.04182
NM_018947.6(CYCS):c.-6T>G rs11267038 0.04167
NM_001250.6(CD40):c.371C>T (p.Ser124Leu) rs11569321 0.04146
NM_001770.6(CD19):c.1541G>A (p.Arg514His) rs34763945 0.04099
NM_000037.4(ANK1):c.3973A>G (p.Met1325Val) rs10093583 0.04068
NM_000637.5(GSR):c.189C>T (p.Ala63=) rs2280854 0.03974
NM_001114134.2(EPB42):c.330G>A (p.Ala110=) rs1042168 0.03903
NM_000037.4(ANK1):c.1320G>A (p.Pro440=) rs28533718 0.03824
NC_000012.12:g.6867521G>A rs1800201 0.03488
NM_006060.6(IKZF1):c.161-8328C>A rs76112582 0.03410
NM_014915.3(ANKRD26):c.1207+15A>G rs115864032 0.03406
NM_005334.3(HCFC1):c.4545G>A (p.Pro1515=) rs1051153 0.03363
NM_005334.3(HCFC1):c.2382C>A (p.Ser794=) rs1051151 0.03295
NM_001375808.2(LPIN2):c.1456+29A>G rs16944068 0.03261
NM_000037.4(ANK1):c.5395-1147C>G rs112350393 0.03054
NM_001002010.5(NT5C3A):c.139-9046T>C rs17170223 0.03046
NM_000637.5(GSR):c.457C>T (p.Arg153Cys) rs8190955 0.02941
NM_001114134.2(EPB42):c.10+19C>T rs77809780 0.02853
NM_015506.3(MMACHC):c.178G>C (p.Asp60His) rs6662272 0.02835
NM_020070.4(IGLL1):c.549C>T (p.Pro183=) rs75088277 0.02804
NM_000365.6(TPI1):c.544-10C>G rs115061797 0.02638
NM_182972.3(IRF2BP2):c.75C>T (p.Pro25=) rs76362154 0.02638
NM_000791.4(DHFR):c.-400A>G rs2405875 0.02618
NM_001430.5(EPAS1):c.1908T>C (p.Asn636=) rs35606117 0.02613
NM_019594.4(LRRC8A):c.1509C>T (p.Thr503=) rs3750318 0.02605
NM_001364905.1(LRBA):c.6781-3C>T rs58873298 0.02593
NM_020070.4(IGLL1):c.276C>T (p.Asn92=) rs116275804 0.02588
NM_001375808.2(LPIN2):c.1168+11G>C rs79439091 0.02576
NM_000476.3(AK1):c.367G>C (p.Glu123Gln) rs8192462 0.02507
NM_001364905.1(LRBA):c.2634T>G (p.Pro878=) rs17027154 0.02479
NM_014915.3(ANKRD26):c.2978A>C (p.Glu993Ala) rs61745662 0.02396
NM_001364905.1(LRBA):c.7630+10G>C rs57901153 0.02351
NM_000037.4(ANK1):c.1782C>A (p.Ser594=) rs61753679 0.02349
NM_000365.6(TPI1):c.631+13G>A rs60115912 0.02344
NM_003998.4(NFKB1):c.1755G>A (p.Thr585=) rs4648093 0.02322
NM_138477.4(CDAN1):c.2174+20G>A rs75993383 0.02307
NM_020070.4(IGLL1):c.464C>T (p.Pro155Leu) rs145176864 0.02290
NM_014915.3(ANKRD26):c.2376-4G>A rs75445709 0.02272
NM_012092.4(ICOS):c.150A>G (p.Gln50=) rs55972840 0.02252
NM_012092.4(ICOS):c.501+7G>A rs57149344 0.02252
NM_182972.3(IRF2BP2):c.352C>T (p.Pro118Ser) rs148187914 0.02203
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_001250.6(CD40):c.403+20A>G rs11699100 0.02132
NM_001364905.1(LRBA):c.5989C>T (p.Arg1997Cys) rs35879351 0.02129
NM_001364905.1(LRBA):c.4485C>T (p.Gly1495=) rs11735845 0.02120
NM_138477.4(CDAN1):c.2948-13C>T rs117946783 0.02118
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_020070.4(IGLL1):c.507C>T (p.Ser169=) rs74519217 0.02030
NM_000289.6(PFKM):c.1500+32C>T rs41291967 0.02028
NM_006996.3(SLC19A2):c.1215G>A (p.Thr405=) rs61049753 0.02028
NM_013314.4(BLNK):c.195C>T (p.Ser65=) rs12261820 0.01993
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_001364905.1(LRBA):c.2170A>G (p.Ile724Val) rs72719663 0.01896
NM_003998.4(NFKB1):c.1519A>G (p.Met507Val) rs4648072 0.01884
NM_019594.4(LRRC8A):c.1458C>T (p.Pro486=) rs11999276 0.01838
NM_001114134.2(EPB42):c.654+7G>A rs72721553 0.01821
NM_005334.3(HCFC1):c.3568G>A (p.Gly1190Ser) rs185987427 0.01804
NM_018368.4(LMBRD1):c.980+11T>C rs114726590 0.01756
NM_000637.5(GSR):c.43A>G (p.Ser15Gly) rs144194626 0.01737
NM_014915.3(ANKRD26):c.1564+6T>C rs149655759 0.01710
NM_000476.3(AK1):c.517-18C>T rs7031929 0.01694
NM_001002010.5(NT5C3A):c.440+9A>G rs72555745 0.01691
NM_000476.3(AK1):c.186G>A (p.Glu62=) rs61742069 0.01671
NM_005334.3(HCFC1):c.4464G>A (p.Thr1488=) rs141722238 0.01632
NM_003998.4(NFKB1):c.1050C>T (p.Tyr350=) rs4648039 0.01547
NM_001114134.2(EPB42):c.1318+4C>T rs45498491 0.01529
NM_001250.6(CD40):c.679C>G (p.Pro227Ala) rs11086998 0.01523
NM_000175.5(GPI):c.948C>A (p.Ala316=) rs8191416 0.01510
NM_019594.4(LRRC8A):c.2118C>G (p.Leu706=) rs35266233 0.01461
NM_014915.3(ANKRD26):c.3384G>A (p.Lys1128=) rs41299210 0.01449
NM_000037.4(ANK1):c.3224C>T (p.Thr1075Ile) rs35213384 0.01414
NM_019594.4(LRRC8A):c.2157+11C>T rs11999754 0.01366
NM_019594.4(LRRC8A):c.1803T>C (p.Cys601=) rs16930757 0.01361
NM_014915.3(ANKRD26):c.576G>A (p.Gln192=) rs41279942 0.01351
NM_000037.4(ANK1):c.4008G>A (p.Pro1336=) rs147536061 0.01340
NM_000132.4(F8):c.*29C>T rs5986887 0.01323
NM_000355.4(TCN2):c.265T>C (p.Phe89Leu) rs35915865 0.01306
NM_000355.4(TCN2):c.65-17C>T rs77763564 0.01306
NM_001770.6(CD19):c.1486+18T>A rs150575329 0.01255
NM_013314.4(BLNK):c.526-5G>C rs17111459 0.01232
NM_000037.4(ANK1):c.2970C>T (p.Ile990=) rs34969689 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_000365.6(TPI1):c.544-14G>A rs72661109 0.01198
NM_001250.6(CD40):c.559+36G>C rs41282788 0.01183
NM_001375808.2(LPIN2):c.2223C>T (p.Ala741=) rs17555442 0.01175
NM_052945.4(TNFRSF13C):c.229C>T (p.Leu77=) rs140820836 0.01159
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_000132.4(F8):c.1444-22T>C rs5986899 0.01075
NM_001430.5(EPAS1):c.1833C>T (p.Ala611=) rs41281469 0.01075
NM_001322934.2(NFKB2):c.2239C>T (p.Leu747=) rs11191279 0.01026
NM_000637.5(GSR):c.41C>A (p.Pro14Gln) rs192256606 0.00981
NM_001376013.1(EPB41):c.2314-19G>C rs41266199 0.00973
NM_001271696.3(ABCB7):c.945-7C>T rs5937938 0.00961
NM_000791.4(DHFR):c.-416C>G rs2001675 0.00949
NM_020661.4(AICDA):c.210A>G (p.Leu70=) rs104894984 0.00916
NM_019594.4(LRRC8A):c.51C>T (p.Tyr17=) rs16930745 0.00880
NM_013314.4(BLNK):c.362-17T>C rs118063042 0.00879
NM_001375808.2(LPIN2):c.1867C>T (p.Pro623Ser) rs143090653 0.00873
NM_001002010.5(NT5C3A):c.139-4T>G rs72555736 0.00862
NM_001364905.1(LRBA):c.3689G>A (p.Gly1230Asp) rs34708681 0.00859
NM_001376013.1(EPB41):c.1464-20T>C rs139715164 0.00835
NM_000476.3(AK1):c.102C>T (p.Tyr34=) rs61741075 0.00832
NM_001375808.2(LPIN2):c.1801G>A (p.Glu601Lys) rs61735393 0.00824
NM_001364905.1(LRBA):c.5100G>T (p.Leu1700=) rs61741557 0.00815
NM_001243177.4(ALDOA):c.542-16C>A rs78124282 0.00797
NM_001364905.1(LRBA):c.5171+20G>A rs116225517 0.00791
NM_019594.4(LRRC8A):c.774C>T (p.Asp258=) rs41275930 0.00741
NM_020070.4(IGLL1):c.512A>G (p.Asn171Ser) rs1064421 0.00740
NM_000476.3(AK1):c.8-376C>T rs116301334 0.00725
NM_001376013.1(EPB41):c.2019G>A (p.Lys673=) rs79677225 0.00718
NM_001375808.2(LPIN2):c.147C>T (p.His49=) rs17886056 0.00707
NM_000559.3(HBG1):c.410C>G (p.Ala137Gly) rs56205611 0.00681
NM_000037.4(ANK1):c.1590C>T (p.Ala530=) rs61758865 0.00673
NM_000791.4(DHFR):c.-259C>T rs6151597 0.00658
NM_001376013.1(EPB41):c.24G>A (p.Val8=) rs75060926 0.00648
NM_020070.4(IGLL1):c.309G>A (p.Gln103=) rs114285337 0.00642
NM_030943.4(AMN):c.363G>A (p.Gly121=) rs141455061 0.00632
NM_080911.3(UNG):c.291C>T (p.Ser97=) rs3219210 0.00624
NM_138477.4(CDAN1):c.2700G>A (p.Gln900=) rs61745640 0.00622
NM_000132.4(F8):c.670+31C>G rs34277626 0.00585
NM_005334.3(HCFC1):c.1445-14C>T rs184593569 0.00544
NM_000037.4(ANK1):c.1999-17C>T rs28571216 0.00543
NM_019594.4(LRRC8A):c.1995G>A (p.Glu665=) rs11999752 0.00533
NM_019594.4(LRRC8A):c.1371C>T (p.Pro457=) rs11999256 0.00516
NM_001375808.2(LPIN2):c.590+6A>G rs73375280 0.00505
NM_013314.4(BLNK):c.472G>T (p.Ala158Ser) rs148612299 0.00489
NM_138477.4(CDAN1):c.906G>A (p.Leu302=) rs61745955 0.00486
NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro) rs62346982 0.00470
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_005334.3(HCFC1):c.2109G>A (p.Thr703=) rs3027888 0.00450
NM_001271696.3(ABCB7):c.201G>C (p.Gln67His) rs114142266 0.00447
NM_000057.4(BLM):c.4076+4T>G rs183176301 0.00436
NM_001322934.2(NFKB2):c.40G>A (p.Glu14Lys) rs45581936 0.00433
NM_030943.4(AMN):c.829A>G (p.Thr277Ala) rs146499374 0.00428
NM_000037.4(ANK1):c.3033C>T (p.Ser1011=) rs61758866 0.00422
NM_003200.5(TCF3):c.1713G>A (p.Glu571=) rs143212973 0.00394
NM_000057.4(BLM):c.1722A>G (p.Leu574=) rs28385011 0.00379
NM_000037.4(ANK1):c.2403G>A (p.Lys801=) rs147130318 0.00376
NM_001364905.1(LRBA):c.2526T>C (p.Phe842=) rs139428189 0.00376
NM_000037.4(ANK1):c.2735+10G>A rs75296105 0.00374
NM_006996.3(SLC19A2):c.561G>T (p.Leu187=) rs150548640 0.00374
NM_025215.6(PUS1):c.397G>A (p.Asp133Asn) rs76655496 0.00371
NM_020661.4(AICDA):c.585T>C (p.Thr195=) rs78590060 0.00370
NM_001243177.4(ALDOA):c.411A>G (p.Thr137=) rs76767223 0.00362
NM_005026.5(PIK3CD):c.2820T>C (p.His940=) rs28730679 0.00350
NM_012092.4(ICOS):c.58+9T>G rs140049646 0.00348
NM_000057.4(BLM):c.893C>T (p.Thr298Met) rs28384991 0.00346
NM_020661.4(AICDA):c.267C>T (p.Asp89=) rs74334270 0.00326
NM_001002010.5(NT5C3A):c.861G>A (p.Glu287=) rs72555746 0.00310
NM_006996.3(SLC19A2):c.1080T>C (p.Thr360=) rs3737682 0.00297
NM_005026.5(PIK3CD):c.1809G>C (p.Leu603=) rs151278626 0.00268
NM_052945.4(TNFRSF13C):c.60C>T (p.Val20=) rs373828157 0.00260
NM_001322934.2(NFKB2):c.1962C>T (p.Val654=) rs201623844 0.00221
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro) rs4988347 0.00197
NM_006996.3(SLC19A2):c.1322T>C (p.Ile441Thr) rs17847484 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.5479-17T>C rs142836307 0.00138
NM_000037.4(ANK1):c.3532+13C>A rs181905023 0.00122
NM_005026.5(PIK3CD):c.2919C>T (p.Leu973=) rs143168081 0.00114
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_019594.4(LRRC8A):c.1606G>A (p.Val536Ile) rs138622041 0.00102
NM_000037.4(ANK1):c.3102C>T (p.Asn1034=) rs145169484 0.00101
NM_001376013.1(EPB41):c.120A>G (p.Gln40=) rs146663694 0.00086
NM_001375808.2(LPIN2):c.1159A>G (p.Lys387Glu) rs104895501 0.00083
NM_001322934.2(NFKB2):c.921G>A (p.Leu307=) rs146926941 0.00064
NM_000132.4(F8):c.601+17G>A rs200951849 0.00024
NM_001243177.4(ALDOA):c.973C>T (p.Leu325=) rs111252736 0.00022
NM_000132.4(F8):c.1866T>C (p.Leu622=) rs1800290 0.00021
NM_000365.6(TPI1):c.116-12T>C rs369077745 0.00019
NM_001322934.2(NFKB2):c.243+20G>C rs371813362 0.00014
NM_000037.4(ANK1):c.2688C>T (p.Thr896=) rs377333429 0.00004
NM_000037.4(ANK1):c.237C>T (p.Asn79=) rs372696694 0.00001
NM_000132.4(F8):c.6849C>T (p.Ser2283=) rs1319284046 0.00001
NM_000289.6(PFKM):c.888G>A (p.Leu296=) rs753083173 0.00001
NC_000014.9:g.105855203G>A
NC_000014.9:g.105856156C>T rs201981439
NM_000037.4(ANK1):c.2913G>C (p.Leu971=) rs504574
NM_000037.4(ANK1):c.3115+9G>A rs150850103
NM_000037.4(ANK1):c.5395-1286C>T
NM_000037.4(ANK1):c.813C>T (p.Asp271=)
NM_000132.4(F8):c.5493C>G (p.Thr1831=) rs1603432997
NM_000175.5(GPI):c.1356G>C (p.Ala452=) rs34604585
NM_000175.5(GPI):c.751-5dup rs375313737
NM_000289.6(PFKM):c.1413-58C>A rs78496902
NM_000476.3(AK1):c.516+11C>A rs115263629
NM_000559.3(HBG1):c.*3T>C rs62755960
NM_000559.3(HBG1):c.*4C>T rs61893083
NM_000559.3(HBG1):c.*5A>C rs1065686
NM_000559.3(HBG1):c.*6C>T rs5009539
NM_000791.4(DHFR):c.-406CGCTGCAGC[1] rs758595508
NM_000791.4(DHFR):c.-418GGCCGCTGC[1] rs758960105
NM_000791.4(DHFR):c.-437GGGGCGCTG[3] rs60484572
NM_000791.4(DHFR):c.-442_-434del rs3045983
NM_001002010.5(NT5C3A):c.139-9060del rs143513903
NM_001243177.4(ALDOA):c.486+17C>G rs78209292
NM_001250.6(CD40):c.646+27G>T
NM_001376013.1(EPB41):c.2577C>T (p.Thr859=) rs536178
NM_001430.5(EPAS1):c.1035-7C>G rs7557402
NM_002439.5(MSH3):c.162_179del (p.Ala57_Ala62del) rs201874762
NM_003998.4(NFKB1):c.2460G>C (p.Leu820=) rs4648109
NM_005050.4(ABCD4):c.1049C>G (p.Thr350Arg) rs35073715
NM_006947.4(SRP72):c.21G>T (p.Gly7=) rs12513091
NM_014915.3(ANKRD26):c.1462+17C>A rs11015496
NM_018368.4(LMBRD1):c.981-10dup rs202207965
NM_019594.4(LRRC8A):c.-2C>T
NM_020070.4(IGLL1):c.284C>A (p.Thr95Lys) rs116041505
NM_020070.4(IGLL1):c.300C>T (p.Ser100=) rs115303391
NM_020070.4(IGLL1):c.485T>A (p.Met162Lys) rs111903752
NM_020070.4(IGLL1):c.97G>A (p.Val33Met) rs116760479
NM_030943.4(AMN):c.1343_1348dup (p.Gly448_Ala449dup) rs36040113
NM_030943.4(AMN):c.514-34G>C rs144077391
NM_182972.3(IRF2BP2):c.-4G>C
NM_182972.3(IRF2BP2):c.281AGC[6] (p.Gln98dup) rs371994015

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