ClinVar Miner

List of variants reported as benign for anemia by Genome-Nilou Lab

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 424
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HGVS dbSNP gnomAD frequency
NM_005050.4(ABCD4):c.1753-46A>G rs929449 0.99998
NM_001081.4(CUBN):c.8150C>G (p.Ser2717Trp) rs2796835 0.99996
NM_003126.4(SPTA1):c.6548+45A>C rs857717 0.99952
NM_003126.4(SPTA1):c.5189+35A>C rs2518492 0.99935
NM_001081.4(CUBN):c.6485G>A (p.Cys2162Tyr) rs1276712 0.99748
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_000975.4(RPL11):c.-37C>G rs10917413 0.98344
NM_005236.3(ERCC4):c.974-7G>A rs254942 0.97995
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_000135.4(FANCA):c.1225+151T>C rs6500451 0.97075
NM_000135.4(FANCA):c.2316+67A>G rs7200990 0.97043
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_001081.4(CUBN):c.593+33dup rs11409967 0.95095
NM_001081.4(CUBN):c.594-34G>A rs2295813 0.91875
NM_006363.6(SEC23B):c.1233+9A>G rs6081189 0.91788
NM_006363.6(SEC23B):c.834+40T>C rs911115 0.91369
NM_000617.3(SLC11A2):c.1576-14A>G rs161044 0.90828
NM_000617.3(SLC11A2):c.35-498A>C rs445520 0.90819
NM_182916.3(TRNT1):c.68C>T (p.Pro23Leu) rs334773 0.90803
NM_182916.3(TRNT1):c.148+38A>G rs334772 0.90454
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_017875.4(SLC25A38):c.456+36G>A rs1995236 0.88218
NM_001142864.4(PIEZO1):c.7059T>C (p.Pro2353=) rs2290902 0.87977
NM_001142864.4(PIEZO1):c.4956-3T>C rs9935872 0.87681
NM_001081.4(CUBN):c.123-16C>G rs2281648 0.87635
NM_001354735.1(PFKM):c.226C>A (p.Gln76Lys) rs4760682 0.86945
NM_000096.4(CP):c.1632A>T (p.Glu544Asp) rs701753 0.86852
NM_001142864.4(PIEZO1):c.749T>C (p.Val250Ala) rs7184427 0.85861
NM_001081.4(CUBN):c.2791+9C>T rs10795440 0.85809
NM_001142864.4(PIEZO1):c.161-32G>A rs7201439 0.85011
NM_001081.4(CUBN):c.6463-22A>C rs1276713 0.83410
NM_000518.5(HBB):c.315+16G>C rs10768683 0.82893
NM_000518.5(HBB):c.9T>C (p.His3=) rs713040 0.82706
NM_025215.6(PUS1):c.303+89G>T rs10902480 0.82359
NM_000188.3(HK1):c.1443G>A (p.Lys481=) rs748235 0.80224
NM_015702.3(MMADHC):c.453G>A (p.Gln151=) rs11545261 0.78682
NM_001321759.2(CDIN1):c.477-55G>A rs2381887 0.78569
NM_000289.6(PFKM):c.1880+27A>G rs4075913 0.78311
NM_015937.6(PIGT):c.1620T>C (p.Tyr540=) rs707577 0.76713
NM_001081.4(CUBN):c.7912+25T>C rs780807 0.76044
NM_004629.2(FANCG):c.511-45A>G rs554098 0.75732
NM_000037.4(ANK1):c.5479-3T>C rs515071 0.75703
NM_000988.5(RPL27):c.362+17A>C rs11871636 0.75428
NM_001081.4(CUBN):c.10180+30A>G rs703062 0.75316
NM_021922.3(FANCE):c.249-35A>G rs7757405 0.74257
NM_015937.6(PIGT):c.1400+48T>C rs2741566 0.73775
NM_182916.3(TRNT1):c.948A>G (p.Ala316=) rs1705805 0.73295
NM_001081.4(CUBN):c.4563T>A (p.Ile1521=) rs1801229 0.73095
NM_001081.4(CUBN):c.4675C>T (p.Pro1559Ser) rs1801231 0.73090
NM_181697.3(PRDX1):c.107-33A>G rs2356559 0.73044
NM_018124.4(RFWD3):c.269C>A (p.Thr90Asn) rs8058922 0.72932
NM_001081.4(CUBN):c.758T>C (p.Phe253Ser) rs1801222 0.72079
NM_001002010.5(NT5C3A):c.378T>C (p.Tyr126=) rs3750117 0.71939
NM_000135.4(FANCA):c.710-12A>G rs1800286 0.71452
NM_000254.3(MTR):c.3711+15G>T rs3820571 0.70934
NM_001142864.4(PIEZO1):c.1180G>C (p.Val394Leu) rs6500493 0.70789
NM_000188.3(HK1):c.1839+31G>A rs749105 0.70672
NM_001081.4(CUBN):c.9843A>G (p.Thr3281=) rs703064 0.70381
NM_018062.4(FANCL):c.981T>C (p.Ser327=) rs848291 0.69782
NM_001374504.1(TMPRSS6):c.836+23A>G rs2235326 0.68194
NM_006363.6(SEC23B):c.1665+48C>T rs2295557 0.66701
NM_015702.3(MMADHC):c.479-22G>C rs12232959 0.66236
NM_001374504.1(TMPRSS6):c.2180T>C (p.Val727Ala) rs855791 0.64686
NM_001142864.4(PIEZO1):c.6642G>C (p.Leu2214=) rs8057031 0.63867
NM_206965.2(FTCD):c.*108G>A rs12774 0.63657
NM_000186.4(CFH):c.1204C>T (p.His402Tyr) rs1061170 0.63625
NM_032444.4(SLX4):c.4500T>C (p.Asn1500=) rs3810812 0.63612
NM_000355.4(TCN2):c.776G>C (p.Arg259Pro) rs1801198 0.63049
NM_000355.4(TCN2):c.754-31T>C rs2267163 0.63034
NM_000186.4(CFH):c.921A>C (p.Ala307=) rs1061147 0.61990
NM_000037.4(ANK1):c.229-47G>A rs1872877 0.61566
NM_003126.4(SPTA1):c.4702T>C (p.Cys1568Arg) rs863931 0.60775
NM_001374504.1(TMPRSS6):c.1536C>T (p.Asp512=) rs4820268 0.59140
NM_001374504.1(TMPRSS6):c.1441+46C>T rs2072860 0.59102
NM_018124.4(RFWD3):c.1212G>A (p.Thr404=) rs4888262 0.58882
NM_001081.4(CUBN):c.1165C>A (p.Pro389Thr) rs1801224 0.57919
NM_000188.3(HK1):c.2219+27T>C rs2278745 0.56586
NM_001321759.2(CDIN1):c.476+33T>C rs3743338 0.55611
NM_004629.2(FANCG):c.84+77C>A rs504082 0.54871
NC_000003.12:g.124730444A>G rs1139538 0.54345
NM_000254.3(MTR):c.3576C>T (p.Leu1192=) rs1131449 0.54121
NM_001018113.3(FANCB):c.1327-10T>C rs2905223 0.53797
NM_000135.4(FANCA):c.3934+55T>A rs7195906 0.53795
NM_182916.3(TRNT1):c.1056+11A>G rs1669348 0.53660
NM_000135.4(FANCA):c.1226-80T>C rs6500450 0.53395
NM_000135.4(FANCA):c.1084-49G>C rs1800287 0.53385
NM_001355436.2(SPTB):c.4002+26T>C rs229634 0.53044
NM_000135.4(FANCA):c.596+74G>A rs1800285 0.52593
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala) rs7190823 0.52564
NM_001243177.4(ALDOA):c.142-63G>C rs9783783 0.52268
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_000135.4(FANCA):c.2222+107T>C rs886951 0.51679
NM_033022.4(RPS24):c.3+26C>T rs3740253 0.51439
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359 0.51262
NM_000135.4(FANCA):c.1826+15T>C rs1800337 0.51138
NM_000135.4(FANCA):c.2222+100A>G rs886950 0.51061
NM_001081.4(CUBN):c.5856A>G (p.Ser1952=) rs1801234 0.50897
NM_000135.4(FANCA):c.1471-119A>T rs12448860 0.50554
NM_000135.4(FANCA):c.1715+82T>C rs1800335 0.50497
NM_003126.4(SPTA1):c.264+46T>C rs857937 0.50357
NM_000135.4(FANCA):c.1826+99T>A rs7187436 0.50149
NM_003126.4(SPTA1):c.813-45A>G rs703122 0.49749
NM_003126.4(SPTA1):c.915T>C (p.Ser305=) rs703121 0.49738
NM_000136.3(FANCC):c.1155-38T>C rs4647534 0.48457
NM_001321759.2(CDIN1):c.-105C>T rs3743337 0.48044
NM_001113378.2(FANCI):c.288+37G>A rs16942918 0.47622
NM_001386140.1(MTTP):c.453T>C (p.Gly151=) rs991811 0.47516
NM_014176.4(UBE2T):c.15A>G (p.Ser5=) rs14451 0.47315
NM_001386140.1(MTTP):c.891C>G (p.His297Gln) rs2306985 0.47212
NM_001113378.2(FANCI):c.1698+15C>T rs9806604 0.46880
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066 0.46389
NM_000135.4(FANCA):c.1471-73G>A rs2239360 0.45821
NM_000135.4(FANCA):c.596+143T>G rs11076627 0.45367
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) rs1801394 0.44947
NM_001355436.2(SPTB):c.2154A>C (p.Ile718=) rs229591 0.44391
NM_000518.5(HBB):c.315+74T>G rs7480526 0.44189
NM_001321759.2(CDIN1):c.217C>G (p.Leu73Val) rs3784678 0.43599
NM_000186.4(CFH):c.1419G>A (p.Ala473=) rs2274700 0.43407
NM_000375.3(UROS):c.561+19C>T rs2281954 0.43234
NM_015506.3(MMACHC):c.321G>A (p.Val107=) rs2275276 0.43226
NM_000375.3(UROS):c.562-26C>T rs3740179 0.43206
NM_001355436.2(SPTB):c.1316G>A (p.Ser439Asn) rs229587 0.42630
NM_021922.3(FANCE):c.900+39A>G rs13214239 0.42135
NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=) rs3027875 0.42119
NM_001355436.2(SPTB):c.300+7T>C rs229581 0.41899
NM_001113378.2(FANCI):c.3906T>C (p.Gly1302=) rs1138465 0.41848
NM_001355436.2(SPTB):c.4860T>C (p.Ile1620=) rs229592 0.41773
NM_000135.4(FANCA):c.1226-20A>G rs1800330 0.41702
NM_000637.5(GSR):c.696-10C>T rs8190996 0.41377
NM_000135.4(FANCA):c.3240-42G>A rs1800345 0.40844
NM_001355436.2(SPTB):c.4293A>G (p.Arg1431=) rs1626923 0.40570
NM_000135.4(FANCA):c.2151+8T>C rs1800340 0.40536
NM_000186.4(CFH):c.59-36C>T rs551397 0.40527
NM_000135.4(FANCA):c.3935-16C>T rs1061646 0.40513
NM_000186.4(CFH):c.184G>A (p.Val62Ile) rs800292 0.40446
NM_001374504.1(TMPRSS6):c.2190C>T (p.Tyr730=) rs2235321 0.40210
NM_006947.4(SRP72):c.826-23A>G rs7700034 0.40194
NM_017875.4(SLC25A38):c.165G>A (p.Leu55=) rs2270770 0.39870
NM_001374504.1(TMPRSS6):c.730A>G (p.Lys244Glu) rs2235324 0.39823
NM_000135.4(FANCA):c.1084-29A>G rs6500452 0.39672
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_015937.6(PIGT):c.1371G>A (p.Thr457=) rs13217 0.38173
NM_001113378.2(FANCI):c.3006+15A>C rs2159081 0.37877
NM_000136.3(FANCC):c.521+109A>G rs3737142 0.37815
NM_005334.3(HCFC1):c.2841A>G (p.Pro947=) rs730106 0.37791
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro) rs1051152 0.37778
NM_001113378.2(FANCI):c.545+19C>T rs1981623 0.37220
NM_001113378.2(FANCI):c.545+30G>A rs1981624 0.37206
NM_001355436.2(SPTB):c.876+5A>G rs230703 0.36832
NM_001355436.2(SPTB):c.648-49G>A rs230704 0.36676
NM_005236.3(ERCC4):c.1905-35T>C rs1799799 0.36580
NM_000188.3(HK1):c.78C>G (p.Leu26=) rs1133189 0.36523
NM_004629.2(FANCG):c.1636+7A>G rs587118 0.35683
NM_018368.4(LMBRD1):c.1509+22G>A rs3214021 0.35441
NM_000254.3(MTR):c.3492C>A (p.Arg1164=) rs12070777 0.34762
NM_000254.3(MTR):c.3144A>G (p.Ala1048=) rs2229276 0.34551
NM_001081.4(CUBN):c.2487G>A (p.Ser829=) rs1801225 0.34517
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_003126.4(SPTA1):c.5958C>T (p.Pro1986=) rs3753068 0.33588
NM_006363.6(SEC23B):c.1744-20T>A rs3736775 0.33572
NM_006947.4(SRP72):c.610+35C>T rs11610 0.33008
NM_018368.4(LMBRD1):c.1407T>A (p.Asp469Glu) rs12648 0.32715
NM_001113378.2(FANCI):c.257C>T (p.Ala86Val) rs17803620 0.31885
NM_003126.4(SPTA1):c.1350+14A>T rs703116 0.31859
NM_002454.3(MTRR):c.524C>T (p.Ser175Leu) rs1532268 0.31601
NM_002454.3(MTRR):c.1911G>A (p.Ala637=) rs1802059 0.31218
NM_000096.4(CP):c.2286-15del rs143522213 0.30978
NM_001142864.4(PIEZO1):c.63T>G (p.Ala21=) rs2911442 0.30977
NM_006363.6(SEC23B):c.834+41G>A rs1555353 0.30830
NM_005050.4(ABCD4):c.910G>A (p.Ala304Thr) rs4148077 0.30526
NM_005050.4(ABCD4):c.1102G>A (p.Glu368Lys) rs3742801 0.30506
NM_058216.3(RAD51C):c.904+34T>C rs28363318 0.30375
NM_005050.4(ABCD4):c.981C>A (p.Leu327=) rs4148078 0.29827
NM_005050.4(ABCD4):c.184T>C (p.Leu62=) rs2301345 0.29779
NM_001113378.2(FANCI):c.2225G>C (p.Cys742Ser) rs2283432 0.29667
NM_001142864.4(PIEZO1):c.2329+19G>A rs2306050 0.28823
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716 0.28514
NM_017875.4(SLC25A38):c.626-36G>C rs870843 0.27843
NM_018124.4(RFWD3):c.1755-33G>A rs11149759 0.27669
NM_000254.3(MTR):c.2594+15T>C rs1770449 0.27320
NM_001031.5(RPS28):c.*16+23T>C rs4147644 0.27055
NM_003126.4(SPTA1):c.3570-37T>A rs11265044 0.26469
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_005236.3(ERCC4):c.2505T>C (p.Ser835=) rs1799801 0.24619
NM_000037.4(ANK1):c.315C>T (p.Asn105=) rs2304871 0.23757
NM_001018115.3(FANCD2):c.784-19C>T rs9879080 0.23357
NM_001018115.3(FANCD2):c.2976+36T>C rs6805869 0.23353
NM_006516.4(SLC2A1):c.-197A>C rs11537640 0.23186
NM_006516.2(SLC2A1):c.-390delA rs28365848 0.23160
NM_005236.3(ERCC4):c.207+11G>A rs762521 0.22979
NM_005236.3(ERCC4):c.1905-28G>A rs1799800 0.22729
NM_015506.3(MMACHC):c.*279A>G rs9729395 0.22677
NM_001142864.4(PIEZO1):c.4775+31G>T rs3816618 0.22643
NM_001018115.3(FANCD2):c.990-38C>G rs9809061 0.22591
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_032444.4(SLX4):c.753G>A (p.Ala251=) rs8061528 0.21914
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_198253.3(TERT):c.915G>A (p.Ala305=) rs2736098 0.21206
NM_001081.4(CUBN):c.939C>T (p.Asn313=) rs1801223 0.21191
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly) rs1805087 0.21137
NM_002454.3(MTRR):c.537T>C (p.Leu179=) rs161870 0.20980
NM_002454.3(MTRR):c.1049A>G (p.Lys350Arg) rs162036 0.20973
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_001018115.3(FANCD2):c.695+16G>C rs17032283 0.20237
NM_001018115.3(FANCD2):c.439-16A>G rs17032278 0.20185
NM_001018115.3(FANCD2):c.2270-28G>T rs34608006 0.19876
NM_001142864.4(PIEZO1):c.1997+32C>T rs3214056 0.19512
NM_005334.3(HCFC1):c.713-13C>T rs59607260 0.19358
NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017 0.19295
NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=) rs2071133 0.19260
NM_005334.3(HCFC1):c.1085-22C>G rs17421 0.19150
NM_001081.4(CUBN):c.5343-8C>A rs2271463 0.19092
NM_000037.4(ANK1):c.4101C>T (p.Ala1367=) rs7816734 0.18067
NM_000373.4(UMPS):c.1320C>T (p.Gly440=) rs13146 0.17670
NM_000373.4(UMPS):c.638G>C (p.Gly213Ala) rs1801019 0.17658
NM_004629.2(FANCG):c.646+58C>T rs17885726 0.17456
NM_020207.7(ERCC6L2):c.1742T>C (p.Val581Ala) rs2274654 0.17275
NM_001374504.1(TMPRSS6):c.72G>A (p.Pro24=) rs11704654 0.17025
NM_006516.4(SLC2A1):c.399C>T (p.Cys133=) rs11537641 0.16943
NM_006996.3(SLC19A2):c.-4C>T rs2072757 0.16749
NM_001081.4(CUBN):c.9030T>C (p.Ala3010=) rs1801241 0.16648
NM_005334.3(HCFC1):c.4542G>T (p.Leu1514=) rs3027878 0.16009
NM_005334.3(HCFC1):c.2283C>G (p.Thr761=) rs2071134 0.15977
NM_000355.4(TCN2):c.753+45_753+46del rs139588634 0.15769
NM_001040436.3(YARS2):c.*209G>C rs10844337 0.15609
NM_000186.4(CFH):c.2808G>T (p.Glu936Asp) rs1065489 0.14779
NM_000186.4(CFH):c.2016A>G (p.Gln672=) rs3753396 0.14639
NM_001040436.3(YARS2):c.291C>T (p.Gly97=) rs11539444 0.14354
NM_001040436.3(YARS2):c.572G>T (p.Gly191Val) rs11539445 0.14334
NM_001142864.4(PIEZO1):c.2992-23A>G rs76070043 0.14300
NM_006516.2(SLC2A1):c.-490G>C rs3754226 0.14227
NM_001081.4(CUBN):c.4970-22A>C rs74668791 0.13460
NM_001081.4(CUBN):c.5803A>G (p.Ser1935Gly) rs41289305 0.13356
NM_001011.4(RPS7):c.508-12C>A rs2071639 0.12923
NM_000135.4(FANCA):c.3654A>G (p.Pro1218=) rs1800358 0.12784
NM_006363.6(SEC23B):c.1467C>G (p.His489Gln) rs2273526 0.12707
NM_000135.4(FANCA):c.1006+112G>A rs17226075 0.11964
NM_000135.4(FANCA):c.1083+120G>A rs17226159 0.11919
NM_000135.4(FANCA):c.2602-36G>T rs2159116 0.11784
NM_000135.4(FANCA):c.3807G>C (p.Leu1269=) rs11649210 0.11105
NM_001018115.3(FANCD2):c.1413+38A>C rs7615646 0.10867
NM_000037.4(ANK1):c.597G>A (p.Pro199=) rs2304873 0.10581
NM_000518.5(HBB):c.315+81C>T rs7946748 0.10445
NM_001374504.1(TMPRSS6):c.1227C>T (p.Tyr409=) rs881144 0.08889
NM_000186.4(CFH):c.*178T>A rs488738 0.08528
NM_000186.4(CFH):c.3019G>T (p.Val1007Leu) rs534399 0.08522
NM_001113378.2(FANCI):c.2629A>T (p.Ile877Leu) rs35875311 0.07245
NM_006516.4(SLC2A1):c.966C>T (p.Val322=) rs2229680 0.06553
NM_000186.4(CFH):c.2669G>T (p.Ser890Ile) rs515299 0.06393
NM_001081.4(CUBN):c.618C>T (p.Tyr206=) rs41289313 0.06126
NM_001081.4(CUBN):c.1245T>C (p.Gly415=) rs12571671 0.05965
NM_000135.4(FANCA):c.2901C>T (p.Ser967=) rs17226980 0.05869
NM_000037.4(ANK1):c.1856G>A (p.Arg619His) rs2304877 0.04842
NM_000186.3(CFH):c.-195T>C rs35836460 0.04685
NM_000037.4(ANK1):c.*238T>C rs72638944 0.04617
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=) rs2228490 0.04552
NM_000037.4(ANK1):c.450A>G (p.Val150=) rs6982971 0.04455
NM_000037.4(ANK1):c.909+7A>G rs17661203 0.04301
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_000037.4(ANK1):c.1320G>A (p.Pro440=) rs28533718 0.03824
NM_000186.4(CFH):c.1160-15T>C rs34815383 0.03666
NM_000037.4(ANK1):c.5395-1147C>G rs112350393 0.03054
NM_000096.4(CP):c.2554+17G>A rs35593818 0.02896
NM_001081.4(CUBN):c.3417A>G (p.Leu1139=) rs1801228 0.02872
NM_015506.3(MMACHC):c.178G>C (p.Asp60His) rs6662272 0.02835
NM_000135.4(FANCA):c.3348+18A>G rs1800347 0.02828
NM_198253.3(TERT):c.1573+39G>C rs79662648 0.02633
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_001040436.3(YARS2):c.1026G>A (p.Arg342=) rs35339227 0.02168
NM_000186.4(CFH):c.3176T>C (p.Ile1059Thr) rs35343172 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_001081.4(CUBN):c.7724C>G (p.Pro2575Arg) rs3740168 0.02019
NM_000037.4(ANK1):c.3327+21C>G rs61207451 0.01947
NM_000186.4(CFH):c.*98C>T rs35742764 0.01872
NM_002454.3(MTRR):c.1761T>C (p.Tyr587=) rs6874544 0.01706
NM_006516.4(SLC2A1):c.-190G>C rs114514007 0.01675
NM_000186.4(CFH):c.1652T>C (p.Ile551Thr) rs35453854 0.01591
NM_000186.4(CFH):c.477T>C (p.Ser159=) rs34940854 0.01586
NM_000186.4(CFH):c.245-7G>A rs35814900 0.01519
NM_000186.4(CFH):c.1428A>G (p.Gln476=) rs34399588 0.01440
NM_000186.4(CFH):c.2236+8T>A rs7537967 0.01429
NM_000037.4(ANK1):c.3224C>T (p.Thr1075Ile) rs35213384 0.01414
NM_015506.3(MMACHC):c.738C>T (p.Pro246=) rs16832550 0.01337
NM_001040436.3(YARS2):c.*191T>C rs144235100 0.01314
NM_000037.4(ANK1):c.654C>A (p.Asn218Lys) rs61735313 0.01280
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_000135.4(FANCA):c.1627-32T>C rs17226337 0.01179
NM_006516.4(SLC2A1):c.19-207T>C rs41310434 0.01173
NM_000037.4(ANK1):c.2296-20C>T rs73619321 0.01143
NM_000037.4(ANK1):c.489C>T (p.Leu163=) rs34173100 0.01106
NM_001040436.3(YARS2):c.*162A>G rs11052215 0.01096
NM_006516.4(SLC2A1):c.973-17A>G rs111596088 0.01025
NM_001040436.3(YARS2):c.1356A>G (p.Gln452=) rs148729348 0.00975
NM_001081.4(CUBN):c.6788T>G (p.Phe2263Cys) rs2271460 0.00803
NM_032444.4(SLX4):c.3963G>A (p.Pro1321=) rs116781836 0.00774
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile) rs61750974 0.00763
NM_000186.4(CFH):c.1159+19T>G rs35695425 0.00756
NM_000186.4(CFH):c.3102T>C (p.Asn1034=) rs34594237 0.00750
NM_001040436.3(YARS2):c.1103+18T>C rs190343859 0.00622
NM_000037.4(ANK1):c.1999-17C>T rs28571216 0.00543
NM_006516.4(SLC2A1):c.417C>T (p.Phe139=) rs144538918 0.00517
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_001142864.4(PIEZO1):c.2865G>A (p.Gln955=) rs35597347 0.00444
NM_001040436.3(YARS2):c.342C>T (p.Gly114=) rs115606831 0.00371
NM_000032.5(ALAS2):c.1560C>A (p.Pro520=) rs150055592 0.00362
NM_001271696.3(ABCB7):c.938G>A (p.Arg313Gln) rs147584361 0.00272
NM_000186.4(CFH):c.428-14T>C rs184188486 0.00271
NM_000186.4(CFH):c.3150T>C (p.Asn1050=) rs113347629 0.00269
NM_000037.4(ANK1):c.5097-34C>T rs185434561 0.00261
NM_000037.4(ANK1):c.981C>T (p.Tyr327=) rs61758867 0.00253
NM_000186.4(CFH):c.3207T>C (p.Ser1069=) rs62641697 0.00219
NM_015506.3(MMACHC):c.276+17T>A rs115028762 0.00201
NM_000037.4(ANK1):c.5395-1162C>A rs145094714 0.00138
NM_000037.4(ANK1):c.5479-17T>C rs142836307 0.00138
NM_000186.4(CFH):c.1935G>T (p.Thr645=) rs56035657 0.00105
NM_006516.4(SLC2A1):c.680-12C>T rs150960456 0.00088
NM_006516.4(SLC2A1):c.*22G>A rs2229683 0.00081
NM_006516.4(SLC2A1):c.1170C>T (p.Ile390=) rs2236574 0.00081
NM_006516.4(SLC2A1):c.1372C>A (p.Arg458=) rs13306758 0.00070
NM_006516.4(SLC2A1):c.275+17C>T rs761669510 0.00061
NM_000037.4(ANK1):c.1467G>A (p.Leu489=) rs148165519 0.00057
NM_000186.4(CFH):c.3133+8G>T rs142718541 0.00036
NM_006516.4(SLC2A1):c.138G>C (p.Gln46His) rs149998596 0.00014
NM_006516.4(SLC2A1):c.517-18G>A rs372553463 0.00013
NM_006516.4(SLC2A1):c.-26G>C rs375001117 0.00009
NM_000186.4(CFH):c.350+9T>C rs201686629 0.00007
NM_006516.4(SLC2A1):c.258C>T (p.Phe86=) rs147319894 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_006516.4(SLC2A1):c.276-9C>T rs529579952 0.00005
NM_000186.4(CFH):c.807T>C (p.Asn269=) rs757654697 0.00004
NM_006516.4(SLC2A1):c.276-19C>T rs74945664 0.00004
NM_015506.3(MMACHC):c.495G>A (p.Leu165=) rs761111018 0.00003
NM_006516.4(SLC2A1):c.1278+9C>G rs550156548 0.00002
NM_000037.4(ANK1):c.*385del rs112209933
NM_000037.4(ANK1):c.2913G>C (p.Leu971=) rs504574
NM_000037.4(ANK1):c.4538-52G>C rs499295
NM_000135.4(FANCA):c.2223-114C>T rs886952
NM_000135.4(FANCA):c.4260+29T>C rs1800359
NM_000186.4(CFH):c.245-10_245-9dup rs35507625
NM_000186.4(CFH):c.245-11_245-9dup rs35507625
NM_000186.4(CFH):c.245-9del rs35507625
NM_000186.4(CFH):c.245-9dup rs35507625
NM_000186.4(CFH):c.3138C>T (p.Thr1046=) rs61822181
NM_000186.4(CFH):c.3427C>G (p.Gln1143Glu) rs15809
NM_000186.4(CFH):c.350+15C>T rs190197472
NM_000254.3(MTR):c.2474-18del rs150727404
NM_000617.3(SLC11A2):c.309+44A>C rs224589
NM_001018115.3(FANCD2):c.378-6_378-5del rs55973240
NM_001029.5(RPS26):c.-22C>G rs1131017
NM_001030.6(RPS27):c.116-45_116-44dup rs35506293
NM_001040436.3(YARS2):c.*406C>T rs145618550
NM_001081.4(CUBN):c.10656C>A (p.Asn3552Lys) rs1801232
NM_001081.4(CUBN):c.1911C>T (p.Leu637=) rs41289311
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_001271696.3(ABCB7):c.168+69C>G rs1039123
NM_001355436.2(SPTB):c.4563+12G>C rs1741489
NM_001358263.1(HK1):c.75+23T>C rs4746837
NM_001374504.1(TMPRSS6):c.631+46A>G rs2743824
NM_001376013.1(EPB41):c.2577C>T (p.Thr859=) rs536178
NM_002454.3(MTRR):c.1875G>A (p.Val625=) rs12347
NM_002454.3(MTRR):c.904-20dup rs11398509
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_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_006947.4(SRP72):c.21G>T (p.Gly7=) rs12513091
NM_015937.6(PIGT):c.594+36dup rs3092108
NM_020207.7(ERCC6L2):c.3552G>T (p.Pro1184=) rs12683634
NM_021922.3(FANCE):c.387A>C (p.Pro129=) rs4713867
NM_022725.4(FANCF):c.-10C>T rs3740615
NM_206965.2(FTCD):c.1392C>G (p.Ala464=) rs1047179

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