ClinVar Miner

List of variants reported as benign for familial hemolytic anemia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (77):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 234
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HGVS dbSNP gnomAD frequency
NM_003126.4(SPTA1):c.3487T>G (p.Ser1163Ala) rs2482965 0.99361
NM_000037.4(ANK1):c.*2152T>G rs543817 0.98376
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_006363.6(SEC23B):c.1233+9A>G rs6081189 0.91788
NM_006363.5(SEC23B):c.-232C>G rs4813333 0.83645
NM_000037.4(ANK1):c.5479-3T>C rs515071 0.75703
NM_000342.4(SLC4A1):c.*1568G>A rs5033 0.63671
NM_003126.4(SPTA1):c.4702T>C (p.Cys1568Arg) rs863931 0.60775
NM_001386140.1(MTTP):c.*1046C>G rs1061271 0.59509
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.915T>C (p.Ser305=) rs703121 0.49738
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_000375.3(UROS):c.-219C>A rs4385801 0.41780
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_000375.3(UROS):c.-185G>A rs4256900 0.41165
NM_003126.4(SPTA1):c.2874G>A (p.Leu958=) rs857691 0.40606
NM_138477.4(CDAN1):c.1787A>G (p.Gln596Arg) rs12917189 0.40225
NM_138477.4(CDAN1):c.*214T>C rs3742988 0.39766
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_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_003126.4(SPTA1):c.1350+14A>T rs703116 0.31859
NM_000289.5(PFKM):c.-112T>G rs12306290 0.29895
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716 0.28514
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_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_003126.4(SPTA1):c.3570-12C>T rs2246434 0.22246
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_000289.6(PFKM):c.516C>T (p.Thr172=) rs1049392 0.18973
NM_000037.4(ANK1):c.4101C>T (p.Ala1367=) rs7816734 0.18067
NM_000289.6(PFKM):c.2093-14A>G rs11168427 0.16418
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500 0.16379
NM_000253.3(MTTP):c.-252G>C rs11944749 0.15525
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_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_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_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_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_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.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_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_001386140.1(MTTP):c.285G>C (p.Gln95His) rs61733139 0.04959
NM_000037.4(ANK1):c.1856G>A (p.Arg619His) rs2304877 0.04842
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_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_000037.4(ANK1):c.3486C>T (p.Ser1162=) rs35964634 0.04182
NM_000037.4(ANK1):c.3973A>G (p.Met1325Val) rs10093583 0.04068
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
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_000342.4(SLC4A1):c.2584G>A (p.Val862Ile) rs5026 0.02980
NM_000342.4(SLC4A1):c.113A>C (p.Asp38Ala) rs5035 0.02695
NM_000365.6(TPI1):c.544-10C>G rs115061797 0.02638
NM_003126.4(SPTA1):c.5388G>A (p.Gln1796=) rs61140046 0.02445
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_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_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_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_000342.4(SLC4A1):c.2688T>C (p.Asp896=) rs45497993 0.01896
NM_000342.4(SLC4A1):c.2712C>T (p.Tyr904=) rs45519733 0.01857
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_001386140.1(MTTP):c.*279C>G rs115807483 0.01703
NM_000342.4(SLC4A1):c.*408C>T rs45555735 0.01626
NM_003126.4(SPTA1):c.2353C>A (p.Arg785=) rs2022057 0.01562
NM_000342.4(SLC4A1):c.1770G>A (p.Lys590=) rs35807245 0.01536
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_138477.4(CDAN1):c.157C>T (p.Leu53=) rs186189866 0.01218
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_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_138477.4(CDAN1):c.2445C>T (p.Gly815=) rs114208791 0.01142
NM_000037.4(ANK1):c.489C>T (p.Leu163=) rs34173100 0.01106
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_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_000289.6(PFKM):c.*282C>T rs8977 0.00906
NM_000342.4(SLC4A1):c.1239C>T (p.Tyr413=) rs5014 0.00887
NM_000342.4(SLC4A1):c.*335G>A rs13306777 0.00773
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile) rs61750974 0.00763
NM_006363.6(SEC23B):c.*657A>G rs114937628 0.00723
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_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_000342.4(SLC4A1):c.1953C>T (p.His651=) rs5021 0.00529
NM_001386140.1(MTTP):c.*796C>T rs551084925 0.00527
NM_000365.6(TPI1):c.*39G>A rs12692 0.00504
NM_000375.3(UROS):c.*37G>T rs372132511 0.00489
NM_006363.6(SEC23B):c.1649G>A (p.Arg550Gln) rs111572459 0.00474
NM_000365.6(TPI1):c.600G>A (p.Ala200=) rs61747602 0.00452
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_000375.3(UROS):c.338A>T (p.Asp113Val) rs117926090 0.00376
NM_000342.4(SLC4A1):c.216G>T (p.Glu72Asp) rs13306788 0.00342
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His) rs147390654 0.00294
NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu) rs2285644 0.00284
NM_006363.6(SEC23B):c.2298C>T (p.Ala766=) rs77945587 0.00228
NM_006563.5(KLF1):c.311C>T (p.Ala104Val) rs182276666 0.00210
NM_000342.4(SLC4A1):c.1314G>A (p.Ser438=) rs13306781 0.00193
NM_006563.5(KLF1):c.325C>T (p.Pro109Ser) rs117351327 0.00179
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_000037.4(ANK1):c.2495G>A (p.Arg832Gln) rs34523608 0.00150
NM_000342.4(SLC4A1):c.2716G>C (p.Glu906Gln) rs199694087 0.00128
NM_000365.6(TPI1):c.321T>C (p.Asp107=) rs141972556 0.00104
NM_000375.3(UROS):c.-136C>T rs539482783 0.00096
NM_006563.5(KLF1):c.520G>T (p.Gly174Cys) rs566095433 0.00089
NM_006563.5(KLF1):c.*254C>T rs564687827 0.00081
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_000037.4(ANK1):c.675C>T (p.Leu225=) rs146507999 0.00026
NM_006563.5(KLF1):c.541T>A (p.Tyr181Asn) rs547785696 0.00024
NM_000037.4(ANK1):c.499G>C (p.Gly167Arg) rs201024919 0.00021
NM_006563.5(KLF1):c.803G>T (p.Arg268Leu) rs199685739 0.00014
NM_006563.5(KLF1):c.*185G>A rs137908457 0.00007
NM_006563.5(KLF1):c.757G>A (p.Glu253Lys) rs757861047 0.00005
NM_000342.4(SLC4A1):c.*135G>A rs566741511 0.00004
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_006563.5(KLF1):c.286C>T (p.Leu96=) rs748056490 0.00001
NM_000037.4(ANK1):c.2913G>C (p.Leu971=) rs504574
NM_000037.4(ANK1):c.3115+9G>A rs150850103
NM_000289.6(PFKM):c.*163G>A rs370250637
NM_000298.6(PKLR):c.*13T>C rs1052177
NM_000375.3(UROS):c.512T>G (p.Val171Gly) rs17173752
NM_003126.4(SPTA1):c.6549-12G>A rs857716
NM_006363.6(SEC23B):c.*318dup rs397793825
NM_006363.6(SEC23B):c.1233+25dup rs57738665
NM_006563.5(KLF1):c.*291A>G rs531279487

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