ClinVar Miner

List of variants reported as pathogenic for anemia by OMIM

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 706
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HGVS dbSNP gnomAD frequency
NM_001083116.3(PRF1):c.11G>A (p.Arg4His) rs35418374 0.02616
NR_001566.3(TERC):n.58G>A rs113487931 0.01733
NM_003126.4(SPTA1):c.2373C>A (p.Asp791Glu) rs7418956 0.01431
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031 0.01150
NC_000023.11:g.55031184G>C rs140772352 0.00656
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
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_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_206965.2(FTCD):c.1607T>A (p.Leu536Ter) rs149266909 0.00116
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_005689.4(ABCB6):c.2168G>A (p.Arg723Gln) rs148211042 0.00073
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs) rs749272546 0.00062
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_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_000518.5(HBB):c.93G>T (p.Arg31Ser) rs1135071 0.00035
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_000059.4(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065 0.00032
NM_001081.4(CUBN):c.3890C>T (p.Pro1297Leu) rs121434430 0.00027
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_020207.7(ERCC6L2):c.1930C>T (p.Arg644Ter) rs147948835 0.00022
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_003126.4(SPTA1):c.620T>C (p.Leu207Pro) rs121918643 0.00019
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_005142.3(CBLIF):c.79+1G>A rs147785187 0.00017
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_000136.3(FANCC):c.553C>T (p.Arg185Ter) rs121917783 0.00011
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242 0.00011
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu) rs121913578 0.00009
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys) rs201777056 0.00009
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) rs121918664 0.00009
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser) rs121434406 0.00008
NM_005142.3(CBLIF):c.137C>T (p.Ser46Leu) rs121434322 0.00008
NM_182916.3(TRNT1):c.668T>C (p.Ile223Thr) rs370011798 0.00008
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu) rs202153130 0.00007
NM_002454.3(MTRR):c.903+469T>C rs893229476 0.00007
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln) rs121918243 0.00007
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_000398.7(CYB5R3):c.316G>A (p.Val106Met) rs121965009 0.00006
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00006
NM_001374504.1(TMPRSS6):c.1534G>A (p.Asp512Asn) rs137853120 0.00006
NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro) rs121918634 0.00006
NM_206965.2(FTCD):c.403C>T (p.Arg135Cys) rs28941768 0.00006
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398 0.00005
NM_000175.5(GPI):c.671C>T (p.Thr224Met) rs61754634 0.00005
NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter) rs121918164 0.00005
NM_017875.4(SLC25A38):c.349C>T (p.Arg117Ter) rs121918330 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_000398.7(CYB5R3):c.464-2A>C rs794728013 0.00004
NM_000398.7(CYB5R3):c.478C>T (p.Arg160Ter) rs61732609 0.00004
NM_001142864.4(PIEZO1):c.6380C>T (p.Thr2127Met) rs587776991 0.00004
NM_001374504.1(TMPRSS6):c.1297G>A (p.Gly433Arg) rs137853119 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_006947.4(SRP72):c.620G>A (p.Arg207His) rs387907189 0.00004
NM_030943.4(AMN):c.208-2A>G rs386834170 0.00004
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097 0.00004
NM_080669.6(SLC46A1):c.1004C>A (p.Ala335Asp) rs281875208 0.00004
NM_181697.3(PRDX1):c.515-1G>T rs751828470 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_000617.3(SLC11A2):c.635G>T (p.Gly212Val) rs121918367 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_025215.6(PUS1):c.430C>T (p.Arg144Trp) rs104894371 0.00003
NM_080669.6(SLC46A1):c.1082-1G>A rs80338775 0.00003
NM_206965.2(FTCD):c.763C>T (p.Arg255Ter) rs140217223 0.00003
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458 0.00002
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_000398.7(CYB5R3):c.173G>A (p.Arg58Gln) rs121965007 0.00002
NM_000398.7(CYB5R3):c.218T>C (p.Leu73Pro) rs121965013 0.00002
NM_000398.7(CYB5R3):c.611G>A (p.Cys204Tyr) rs121965015 0.00002
NM_000398.7(CYB5R3):c.875G>A (p.Gly292Asp) rs121965016 0.00002
NM_001002010.5(NT5C3A):c.395A>T (p.Asp132Val) rs104894025 0.00002
NM_001040436.3(YARS2):c.1078C>T (p.Arg360Ter) rs587777214 0.00002
NM_001374504.1(TMPRSS6):c.1537G>A (p.Glu513Lys) rs387907018 0.00002
NM_004629.2(FANCG):c.1480+1G>C rs149616199 0.00002
NM_006996.3(SLC19A2):c.242dup (p.Tyr81Ter) rs752104654 0.00002
NM_015506.3(MMACHC):c.276G>T (p.Glu92Asp) rs556977618 0.00002
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889 0.00002
NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter) rs397509363 0.00002
NM_030943.4(AMN):c.122C>T (p.Thr41Ile) rs119478058 0.00002
NM_058216.3(RAD51C):c.773G>A (p.Arg258His) rs267606997 0.00002
NM_172002.5(HSCB):c.259dup (p.Thr87fs) rs773607816 0.00002
NM_000037.4(ANK1):c.5497C>T (p.Arg1833Ter) rs137852831 0.00001
NM_000059.4(BRCA2):c.4648G>T (p.Glu1550Ter) rs80358695 0.00001
NM_000059.4(BRCA2):c.631+2T>G rs81002899 0.00001
NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs) rs80359773 0.00001
NM_000119.2(EPB42):c.424G>A (p.Ala142Thr) rs104894487 0.00001
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950 0.00001
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe) rs753700179 0.00001
NM_000135.4(FANCA):c.709+5G>A rs759877008 0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784 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_000254.3(MTR):c.1228G>C (p.Ala410Pro) rs121913582 0.00001
NM_000254.3(MTR):c.1753C>T (p.Arg585Ter) rs121913580 0.00001
NM_000254.3(MTR):c.340-166A>G rs1661117141 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_000398.7(CYB5R3):c.719A>G (p.Asp240Gly) rs121965018 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_000617.3(SLC11A2):c.1197G>C (p.Glu399Asp) rs121918365 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_001018115.3(FANCD2):c.3707G>A (p.Arg1236His) rs121917786 0.00001
NM_001018115.3(FANCD2):c.376A>G (p.Ser126Gly) rs764507146 0.00001
NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp) rs121917787 0.00001
NM_001063.4(TF):c.1180G>A (p.Glu394Lys) rs121918680 0.00001
NM_001063.4(TF):c.229G>A (p.Asp77Asn) rs121918681 0.00001
NM_001355436.2(SPTB):c.6157G>C (p.Ala2053Pro) rs121918645 0.00001
NM_001374504.1(TMPRSS6):c.1038C>A (p.Tyr346Ter) rs137853121 0.00001
NM_001374504.1(TMPRSS6):c.1355del (p.Glu452fs) rs1384933966 0.00001
NM_001374504.1(TMPRSS6):c.1768C>T (p.Arg590Ter) rs137853123 0.00001
NM_001374504.1(TMPRSS6):c.1877_1878dup (p.Lys627fs) rs869320724 0.00001
NM_001374504.1(TMPRSS6):c.326C>A (p.Ala109Asp) rs267607121 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_002049.4(GATA1):c.647G>A (p.Arg216Gln) rs104894809 0.00001
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu) rs137853062 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_004134.7(HSPA9):c.409_410del (p.Asp136_Ile137insTer) rs763817505 0.00001
NM_004629.2(FANCG):c.313G>T (p.Glu105Ter) rs121434425 0.00001
NM_005050.4(ABCD4):c.542+1G>T rs769364566 0.00001
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu) rs121913615 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_006996.3(SLC19A2):c.152C>T (p.Pro51Leu) rs121908540 0.00001
NM_006996.3(SLC19A2):c.515G>A (p.Gly172Asp) rs28937595 0.00001
NM_007294.4(BRCA1):c.1115G>A (p.Trp372Ter) rs397508838 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_016417.3(GLRX5):c.294A>G (p.Gln98=) rs121908584 0.00001
NM_016417.3(GLRX5):c.383T>A (p.Met128Lys) rs891111781 0.00001
NM_016417.3(GLRX5):c.443T>C (p.Leu148Ser) rs765487627 0.00001
NM_021922.3(FANCE):c.1114-8G>A rs878854342 0.00001
NM_021922.3(FANCE):c.355C>T (p.Gln119Ter) rs121434505 0.00001
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter) rs118203997 0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998 0.00001
NM_025215.6(PUS1):c.883C>T (p.Arg295Trp) rs869025309 0.00001
NM_032444.4(SLX4):c.1163+2T>A rs773642409 0.00001
NM_080669.6(SLC46A1):c.1126C>T (p.Arg376Trp) rs80338773 0.00001
NM_080669.6(SLC46A1):c.337C>T (p.Arg113Cys) rs80338770 0.00001
NM_080669.6(SLC46A1):c.954C>G (p.Ser318Arg) rs80338772 0.00001
NM_138477.4(CDAN1):c.1796A>G (p.Asn599Ser) rs120074166 0.00001
NM_182916.3(TRNT1):c.461C>T (p.Thr154Ile) rs606231290 0.00001
NM_198253.3(TERT):c.2080G>A (p.Val694Met) rs121918662 0.00001
NM_198253.3(TERT):c.2594G>A (p.Arg865His) rs121918666 0.00001
NM_198253.3(TERT):c.508G>A (p.Val170Met) rs387907248 0.00001
APOB, 1-BP DEL, 4432T
APOB, EX21DEL
FANCB, 3314-BP DEL
FANCC, 250-BP DEL
G6PD Amsterdam rs2070404412
G6PD NARA rs587776730
HBB, 106-KB DEL
MTR, IVS6AS, G-A, LYS203
MTRR, 4-BP DEL, NT1675
NC_000001.11:g.155301478C>G rs2148221101
NC_000002.12:g.21004453del rs387906569
NC_000010.11:g.125815036_125815132del rs2133941461
NC_000012.10:g.54711095_54731551del
NC_000022.11:g.28741962G>A rs551244874
NC_012920.1(MT-ATP6):m.8969G>A rs794726857
NC_012920.1(MT-CO1):m.6721T>C rs199476127
NG_007406.1:g.(5249_8228)_(17155_19960)del
NG_009890.2:g.(5565_6559)_(8796_9460)del
NG_011474.1:g.11070_11071insSVAelement
NG_016202.2:g.(105169_105646)_(109769_110365)del
NM_000032.5(ALAS2):c.1163C>G (p.Thr388Ser) rs137852300
NM_000032.5(ALAS2):c.1184G>A (p.Cys395Tyr) rs137852307
NM_000032.5(ALAS2):c.1231C>T (p.Arg411Cys) rs137852305
NM_000032.5(ALAS2):c.1354C>T (p.Arg452Cys) rs137852311
NM_000032.5(ALAS2):c.1427T>A (p.Ile476Asn) rs137852299
NM_000032.5(ALAS2):c.1570C>G (p.His524Asp) rs137852309
NM_000032.5(ALAS2):c.1702A>G (p.Ser568Gly) rs137852306
NM_000032.5(ALAS2):c.475G>A (p.Asp159Asn) rs137852308
NM_000032.5(ALAS2):c.475G>T (p.Asp159Tyr) rs137852308
NM_000032.5(ALAS2):c.495C>A (p.Phe165Leu) rs137852301
NM_000032.5(ALAS2):c.569A>T (p.Asp190Val) rs28935484
NM_000032.5(ALAS2):c.595T>C (p.Tyr199His) rs137852310
NM_000032.5(ALAS2):c.871G>A (p.Gly291Ser) rs137852302
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_000059.4(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter) rs276174859
NM_000059.4(BRCA2):c.631+1G>A rs81002897
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000059.4(BRCA2):c.7464_7465insTA (p.Asp2489Ter) rs886038169
NM_000059.4(BRCA2):c.7529T>C (p.Leu2510Pro) rs80358979
NM_000059.4(BRCA2):c.8219T>A (p.Leu2740Ter) rs80359070
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000059.4(BRCA2):c.8732C>A (p.Ala2911Glu) rs80359130
NM_000059.4(BRCA2):c.9196C>T (p.Gln3066Ter) rs80359180
NM_000096.4(CP):c.1282_1286dup (p.Asp430fs) rs386134145
NM_000096.4(CP):c.1864+5G>A rs768510247
NM_000096.4(CP):c.2389del (p.Glu797fs) rs386134149
NM_000096.4(CP):c.2630G>A (p.Trp877Ter) rs121909579
NM_000096.4(CP):c.3019-1G>A rs386134142
NM_000096.4(CP):c.606dup (p.Asp203fs) rs386134143
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_000135.2(FANCA):c.1007_3066del
NM_000135.2:c.1471_1626del
NM_000135.2:c.1627_1900del
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1606del (p.Ser536fs) rs587776570
NM_000135.4(FANCA):c.1615del (p.Asp539fs) rs778507965
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs) rs747851434
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs) rs794726660
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) rs397507553
NM_000135.4(FANCA):c.513G>A (p.Trp171Ter) rs121907930
NM_000135.4(FANCA):c.894_1006del (p.Trp298Cysfs)
NM_000136.3(FANCC):c.1487T>G (p.Leu496Arg) rs121917785
NM_000136.3(FANCC):c.1555dup (p.Thr519fs) rs794726667
NM_000136.3(FANCC):c.165+1G>T rs794726668
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
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_000184.2(HBG2):c.277C>T (p.His93Tyr) rs35103459
NM_000184.3(HBG2):c.125T>C (p.Phe42Ser) rs34878913
NM_000184.3(HBG2):c.190C>T (p.His64Tyr) rs34474104
NM_000184.3(HBG2):c.191A>T (p.His64Leu)
NM_000184.3(HBG2):c.202G>A (p.Val68Met) rs587776864
NM_000188.3(HK1):c.1586T>C (p.Leu529Ser) rs137853249
NM_000188.3(HK1):c.497_591+1del
NM_000254.3(MTR):c.2114_2115del (p.Leu705fs) rs797044444
NM_000254.3(MTR):c.2640_2642del (p.Ile881del) rs797044443
NM_000254.3(MTR):c.2758C>G (p.His920Asp) rs121913579
NM_000254.3(MTR):c.3380dup (p.Ala1128fs) rs797044445
NM_000254.3(MTR):c.3613G>T (p.Glu1205Ter) rs121913581
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_000355.4(TCN2):c.427+2T>G rs606231119
NM_000355.4(TCN2):c.581-176A>T rs372866837
NM_000355.4(TCN2):c.927_930del (p.Cys309fs) rs1157135425
NM_000355.4(TCN2):c.940+303_1106+746delinsCTGG
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_000373.3(UMPS):c.[286A>G;285G>C]
NM_000373.4(UMPS):c.326T>G (p.Val109Gly) rs121917892
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_000398.7(CYB5R3):c.229C>T (p.Gln77Ter) rs121965014
NM_000398.7(CYB5R3):c.382T>C (p.Ser128Pro) rs121965006
NM_000398.7(CYB5R3):c.446T>C (p.Leu149Pro) rs121965008
NM_000398.7(CYB5R3):c.463+8G>C rs200872504
NM_000398.7(CYB5R3):c.610T>C (p.Cys204Arg) rs121965011
NM_000398.7(CYB5R3):c.655C>T (p.Arg219Ter) rs121965010
NM_000398.7(CYB5R3):c.734-1G>T rs794728011
NM_000398.7(CYB5R3):c.763GAG[1] (p.Glu256del) rs121965017
NM_000398.7(CYB5R3):c.817_819del (p.Met273del) rs794728012
NM_000398.7(CYB5R3):c.895_897del (p.Phe299del) rs121965012
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_000517.6(HBA2):c.410T>C (p.Leu137Pro) rs41469945
NM_000518.4(HBB):c.127T>G (p.Phe43Val) rs33924146
NM_000518.4(HBB):c.203T>A (p.Val68Glu) rs33918343
NM_000518.4(HBB):c.277C>T (p.His93Tyr) rs33924775
NM_000518.4(HBB):c.320T>A (p.Leu107Gln) rs33941844
NM_000518.4(HBB):c.86T>A (p.Leu29Gln) rs33916412
NM_000518.4(HBB):c.92G>C (p.Arg31Thr) rs33960103
NM_000518.5(HBB):c.117_118del (p.Gln40fs) rs267607291
NM_000518.5(HBB):c.127T>C (p.Phe43Leu) rs33924146
NM_000518.5(HBB):c.127_129del (p.Phe43del) rs41417446
NM_000518.5(HBB):c.128T>C (p.Phe43Ser) rs34378160
NM_000518.5(HBB):c.143dup (p.Asp48fs) rs35894115
NM_000518.5(HBB):c.295G>A (p.Val99Met) rs33933298
NM_000518.5(HBB):c.337T>C (p.Cys113Arg) rs35849199
NM_000518.5(HBB):c.340del (p.Val114fs)
NM_000518.5(HBB):c.344T>C (p.Leu115Pro) rs36015961
NM_000518.5(HBB):c.364G>T (p.Glu122Ter) rs33946267
NM_000518.5(HBB):c.394_404del (p.Gln132fs)
NM_000518.5(HBB):c.92_94dup (p.Arg31dup) rs35348864
NM_000518.5(HBB):c.[385_388delinsCCACA;397_407del]
NM_000558.5(HBA1):c.410T>G (p.Leu137Arg) rs34635364
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_000617.3(SLC11A2):c.1246C>T (p.Arg416Cys) rs121918366
NM_000617.3(SLC11A2):c.310-5_310-3del rs1399911403
NM_000617.3(SLC11A2):c.341_343del (p.Val114del) rs2136280484
NM_000637.5(GSR):c.1121G>C (p.Gly374Ala) rs1586033745
NM_000637.5(GSR):c.1286-229_*499del
NM_000791.4(DHFR):c.238C>T (p.Leu80Phe) rs387906619
NM_000791.4(DHFR):c.458A>T (p.Asp153Val) rs121913223
NM_000969.5(RPL5):c.175_176del (p.Asp59fs) rs1571024430
NM_000969.5(RPL5):c.235dup (p.Tyr79fs) rs1571026775
NM_000969.5(RPL5):c.244G>T (p.Glu82Ter) rs587777117
NM_000969.5(RPL5):c.664C>T (p.Gln222Ter) rs587777118
NM_000969.5(RPL5):c.67C>T (p.Arg23Ter) rs121434405
NM_000969.5(RPL5):c.73+2T>G rs142156224
NM_000975.5(RPL11):c.158-1G>A rs151155897
NM_000975.5(RPL11):c.204del (p.Ile68fs) rs587777120
NM_000975.5(RPL11):c.223C>T (p.Arg75Ter) rs121434389
NM_000975.5(RPL11):c.476_477del (p.Lys159fs) rs587777119
NM_000975.5(RPL11):c.479AGG[1] (p.Glu161del) rs1570569083
NM_000975.5(RPL11):c.60_61del (p.Cys21fs) rs1570566590
NM_000979.4(RPL18):c.152T>C (p.Leu51Ser) rs1568425218
NM_000987.5(RPL26):c.120_121del (p.Lys41fs) rs397518451
NM_000988.5(RPL27):c.-2-1G>A rs1085307119
NM_000996.4(RPL35A):c.304C>T (p.Arg102Ter) rs116840809
NM_000996.4(RPL35A):c.79CTT[1] (p.Leu28del) rs116840807
NM_000996.4(RPL35A):c.97G>A (p.Val33Ile) rs116840808
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_001011.4(RPS7):c.147+1G>A rs397507554
NM_001011.4(RPS7):c.76-1G>T rs1057519624
NM_001014.5(RPS10):c.260dup (p.Glu88fs) rs1581931541
NM_001014.5(RPS10):c.337C>T (p.Arg113Ter) rs267607022
NM_001014.5(RPS10):c.3G>A (p.Met1Ile) rs267607021
NM_001018113.3(FANCB):c.1496+5G>A rs1569085810
NM_001018113.3(FANCB):c.1668del (p.Asp557fs) rs1569083679
NM_001018113.3(FANCB):c.1856_1857insT (p.Arg619fs) rs1601977844
NM_001018113.3(FANCB):c.1857_1858del (p.Arg619fs) rs1569083464
NM_001018113.3(FANCB):c.2150T>G (p.Leu717Ter) rs1569083185
NM_001018113.3(FANCB):c.829dup (p.Cys277fs) rs1602005335
NM_001018115.1:c.1414_1545del
NM_001018115.3(FANCD2):c.958C>T (p.Gln320Ter) rs121917788
NM_001019.5(RPS15A):c.213G>A (p.Lys71=) rs1567287990
NM_001021.6(RPS17):c.159T>G (p.Tyr53Ter) rs6991
NM_001021.6(RPS17):c.201_202del (p.Gly68fs) rs116840812
NM_001021.6(RPS17):c.2T>G (p.Met1Arg) rs116840811
NM_001022.3(RPS19):c.1-231_173-3418del
NM_001022.3(RPS19):c.[43G>T;164C>T]
NM_001022.4(RPS19):c.184C>T (p.Arg62Trp) rs104894711
NM_001022.4(RPS19):c.250A>T (p.Arg84Ter) rs121908649
NM_001022.4(RPS19):c.280C>T (p.Arg94Ter) rs61762293
NM_001022.4(RPS19):c.307del (p.Val103fs) rs786200935
NM_001022.4(RPS19):c.380G>A (p.Gly127Glu) rs786200936
NM_001022.4(RPS19):c.98G>A (p.Trp33Ter) rs104894716
NM_001022.4(RPS19):c.[134_135inv;138_139dup]
NM_001029.5(RPS26):c.1A>G (p.Met1Val) rs143951267
NM_001029.5(RPS26):c.1A>T (p.Met1Leu) rs143951267
NM_001029.5(RPS26):c.259C>T (p.Arg87Ter) rs148942765
NM_001029.5(RPS26):c.3+1G>A rs148622862
NM_001029.5(RPS26):c.31dup (p.Ala11fs) rs786200892
NM_001029.5(RPS26):c.4-2A>T rs786203998
NM_001029.5(RPS26):c.97G>A (p.Asp33Asn) rs267607023
NM_001030.6(RPS27):c.90del (p.Tyr31fs) rs1085307115
NM_001031.5(RPS28):c.1A>G (p.Met1Val) rs786203997
NM_001032.5(RPS29):c.149T>C (p.Ile50Thr) rs587777569
NM_001032.5(RPS29):c.91A>T (p.Ile31Phe) rs587777568
NM_001040436.3(YARS2):c.1303A>G (p.Ser435Gly) rs587777215
NM_001040436.3(YARS2):c.137G>A (p.Gly46Asp) rs587777213
NM_001040436.3(YARS2):c.156C>G (p.Phe52Leu) rs267607180
NM_001040436.3(YARS2):c.572G>A (p.Gly191Asp) rs11539445
NM_001063.4(TF):c.1429G>C (p.Ala477Pro) rs121918679
NM_001063.4(TF):c.562_564delinsAA (p.Gln188fs)
NM_001081.4(CUBN):c.2614_2615del (p.Asp872fs) rs386833777
NM_001081.4(CUBN):c.3329+1G>T rs1205598688
NM_001081.4(CUBN):c.3330-439C>G rs386833782
NM_001081.4(CUBN):c.3335G>A (p.Gly1112Glu) rs2131820786
NM_001083116.3(PRF1):c.1163G>T (p.Ser388Ile) rs193302875
NM_001113378.2(FANCI):c.2T>C (p.Met1Thr) rs2052048258
NM_001113378.2(FANCI):c.3350-88A>G rs2054700381
NM_001113378.2(FANCI):c.3854G>A (p.Arg1285Gln) rs121918163
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_001253384.2(RPL15):c.309+91_361-539del
NM_001271696.3(ABCB7):c.1200T>G (p.Ile400Met) rs72554634
NM_001271696.3(ABCB7):c.1231G>C (p.Val411Leu) rs80356713
NM_001271696.3(ABCB7):c.1297G>A (p.Glu433Lys) rs80356714
NM_001271696.3(ABCB7):c.2021A>G (p.Asp674Gly)
NM_001271696.3(ABCB7):c.624A>T (p.Glu208Asp) rs515726147
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_001355436.2(SPTB):c.6053C>G (p.Ala2018Gly) rs121918647
NM_001355436.2(SPTB):c.6055T>C (p.Ser2019Pro) rs121918648
NM_001355436.2(SPTB):c.6074T>G (p.Leu2025Arg) rs121918649
NM_001355436.2(SPTB):c.6135_6136dup (p.Lys2046fs) rs863223303
NM_001355436.2(SPTB):c.6177del (p.Ser2060fs) rs1594753904
NM_001355436.2(SPTB):c.6191G>C (p.Arg2064Pro) rs121918650
NM_001355436.2(SPTB):c.6269+3G>T rs863223302
NM_001367805.3(KIF23):c.2789C>G (p.Pro930Arg) rs2140422904
NM_001367805.3(KIF23):c.2875del (p.Leu959fs) rs2140424959
NM_001374504.1(TMPRSS6):c.1152T>G (p.Tyr384Ter) rs137853122
NM_001374504.1(TMPRSS6):c.1555+1G>A rs786205058
NM_001374504.1(TMPRSS6):c.1786del (p.Ala596fs) rs767094129
NM_001374504.1(TMPRSS6):c.2028_2031dup (p.Val678fs) rs786205060
NM_001374504.1(TMPRSS6):c.2113+1G>C rs786205059
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.646C>T (p.Arg216Trp) rs387907207
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_002454.3(MTRR):c.1459G>A (p.Gly487Arg) rs137853061
NM_002454.3(MTRR):c.1622_1623dup (p.Met542Ter) rs2126808021
NM_002454.3(MTRR):c.1725GTT[1] (p.Leu576del) rs2126812944
NM_002641.4(PIGA):c.1115del (p.Pro372fs) rs587776725
NM_002641.4(PIGA):c.1188+1G>A rs2147717286
NM_002641.4(PIGA):c.1188+2del rs587776723
NM_002641.4(PIGA):c.1323_1324del (p.Leu442fs) rs587776728
NM_002641.4(PIGA):c.1355_1356insAATTGAGATGGATGACTCCAGATTCTATCATTGA (p.Asp452delinsGluIleGluMetAspAspSerArgPheTyrHisTer) rs786200912
NM_002641.4(PIGA):c.163C>T (p.Gln55Ter) rs199422233
NM_002641.4(PIGA):c.249_250insGT (p.Thr84fs) rs587776726
NM_002641.4(PIGA):c.294C>A (p.Tyr98Ter) rs199422232
NM_002641.4(PIGA):c.431del (p.Thr144fs) rs587776727
NM_002641.4(PIGA):c.459_460insA (p.His154fs) rs587776724
NM_002875.5(RAD51):c.391A>C (p.Thr131Pro) rs1895530875
NM_002875.5(RAD51):c.877G>A (p.Ala293Thr) rs1057519413
NM_002948.5(RPL15):c.242dup (p.Tyr81Ter)
NM_002948.5(RPL15):c.29T>C (p.Leu10Pro)
NM_002948.5(RPL15):c.458A>C (p.Lys153Thr)
NM_002948.5(RPL15):c.85C>T (p.Gln29Ter)
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_004134.7(HSPA9):c.1373_1378del (p.Ile458_Asn459del) rs869312659
NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs) rs1555760738
NM_004437.3(EPB41):c.1219_1458del
NM_004437.3(EPB41):c.1219_1587del
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs) rs397507560
NM_004629.2(FANCG):c.1066C>T (p.Gln356Ter) rs121434426
NM_004629.2(FANCG):c.1761-1G>C rs1829035889
NM_004629.2(FANCG):c.307+1G>C rs200479612
NM_004629.2(FANCG):c.637_643del (p.Tyr213fs) rs587776640
NM_004629.2(FANCG):c.925-2A>G rs397507561
NM_005050.4(ABCD4):c.1456G>T (p.Gly486Cys) rs2080853826
NM_005050.4(ABCD4):c.1746_1747insCT (p.Glu583fs) rs387907315
NM_005142.3(CBLIF):c.1175dup (p.Thr393fs) rs1590854624
NM_005142.3(CBLIF):c.161del (p.Asn54fs) rs1590860794
NM_005142.3(CBLIF):c.183_186del (p.Met61fs) rs765896727
NM_005142.3(CBLIF):c.80-1G>A rs1590860877
NM_005236.3(ERCC4):c.1484_1488del (p.Thr495fs) rs397509400
NM_005236.3(ERCC4):c.2065C>A (p.Arg689Ser) rs149364215
NM_005236.3(ERCC4):c.2371_2398dup (p.Ile800fs) rs397509401
NM_005236.3(ERCC4):c.689T>C (p.Leu230Pro) rs397509402
NM_005334.3(HCFC1):c.-970T>C rs398122908
NM_005334.3(HCFC1):c.217G>A (p.Ala73Thr) rs397515487
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val) rs397515486
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val) rs397515485
NM_005334.3(HCFC1):c.674G>A (p.Ser225Asn) rs318240758
NM_005373.3(MPL):c.1543_1544delinsAA (p.Trp515Lys) rs121913616
NM_005475.3(SH2B3):c.603_607del (p.Arg202fs) rs587776885
NM_005689.4(ABCB6):c.1123C>T (p.Arg375Trp) rs764893806
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_006341.4(MAD2L2):c.254T>A (p.Val85Glu) rs1057517674
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.973G>A (p.Glu325Lys) rs267607201
NM_006947.4(SRP72):c.1064_1065del (p.Thr355fs) rs587776907
NM_006996.3(SLC19A2):c.1074G>A (p.Trp358Ter) rs74315375
NM_006996.3(SLC19A2):c.1148_1149del (p.Val383fs) rs1401027751
NM_006996.3(SLC19A2):c.429_430del (p.Ile145fs) rs1571537879
NM_006996.3(SLC19A2):c.484C>T (p.Arg162Ter) rs74315373
NM_006996.3(SLC19A2):c.725del (p.Pro242fs) rs1571537544
NM_006996.3(SLC19A2):c.750G>A (p.Trp250Ter) rs74315374
NM_006996.3(SLC19A2):c.885del (p.Leu296fs) rs1571532822
NM_007055.3(POLR3A):c.-6128_-995del
NM_007209.4(RPL35):c.231G>C (p.Lys77Asn) rs1564307664
NM_007294.4(BRCA1):c.1292T>G (p.Leu431Ter) rs80357346
NM_007294.4(BRCA1):c.2457del (p.Asp821fs) rs80357669
NM_007294.4(BRCA1):c.2709T>A (p.Cys903Ter) rs1555589094
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.4(BRCA1):c.594_597delTGTG rs797045175
NM_014176.4(UBE2T):c.179+5G>A rs796052212
NM_014176.4(UBE2T):c.4C>G (p.Gln2Glu) rs774357609
NM_015506.3(MMACHC):c.158T>C (p.Leu53Pro) rs756980496
NM_015506.3(MMACHC):c.276G>A (p.Glu92=) rs556977618
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro) rs121918240
NM_015506.3(MMACHC):c.464G>A (p.Gly155Glu) rs606231425
NM_015506.3(MMACHC):c.658_660del (p.Lys220del) rs398124296
NM_015506.3(MMACHC):c.81G>A (p.Gln27=) rs1553162317
NM_015702.3(MMADHC):c.696+3_696+6del rs397509364
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter) rs118204048
NM_016417.3(GLRX5):c.200G>A (p.Cys67Tyr) rs1891344853
NM_016417.3(GLRX5):c.301A>C (p.Lys101Gln) rs869312752
NM_017875.4(SLC25A38):c.277-1G>A rs869312029
NM_017875.4(SLC25A38):c.324_325del (p.Tyr109fs) rs869320719
NM_017875.4(SLC25A38):c.560G>C (p.Arg187Pro) rs121918331
NM_017875.4(SLC25A38):c.790A>T (p.Lys264Ter) rs121918332
NM_018062.3(FANCL):c.822-15_822-9delins177
NM_018062.4(FANCL):c.268del (p.Leu90fs) rs869320684
NM_018062.4(FANCL):c.430del (p.Ser144fs) rs869320685
NM_018124.4(RFWD3):c.1916T>A (p.Ile639Lys) rs1555524842
NM_018124.4(RFWD3):c.204_205dup (p.Leu69fs) rs1205970095
NM_018368.4(LMBRD1):c.404del (p.Thr135fs) rs1562112641
NM_018368.4(LMBRD1):c.515_516del (p.Thr172fs) rs779151199
NM_020207.7(ERCC6L2):c.1203_1206del (p.Thr402fs) rs886037662
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter) rs121434506
NM_022725.4(FANCF):c.16C>T (p.Gln6Ter) rs104894221
NM_022725.4(FANCF):c.219del (p.Arg74fs) rs1858634363
NM_022725.4(FANCF):c.230_252del (p.Val77fs) rs730880277
NM_022725.4(FANCF):c.327C>G (p.Tyr109Ter) rs104894222
NM_022725.4(FANCF):c.351_397del (p.Gly120fs) rs730880278
NM_022725.4(FANCF):c.438_451del (p.Leu146_Arg147insTer) rs778546226
NM_022725.4(FANCF):c.484_485del (p.Leu162fs) rs587778340
NM_022725.4(FANCF):c.534del (p.Lys179fs) rs2133797515
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter) rs118203999
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_025215.6(PUS1):c.658G>T (p.Glu220Ter) rs104894372
NM_030943.4(AMN):c.1006+11_1008del rs1566829097
NM_030943.4(AMN):c.1041_1042delinsCTC (p.Glu348fs) rs2139312594
NM_030943.4(AMN):c.14del (p.Gly5fs) rs386834168
NM_030943.4(AMN):c.206T>A (p.Met69Lys) rs375774640
NM_030943.4(AMN):c.35del (p.Gln12fs) rs769770182
NM_032444.4(SLX4):c.1093del (p.Gln365fs) rs1218169126
NM_032444.4(SLX4):c.1163+2dup rs2040719850
NM_032444.4(SLX4):c.2013+225_3147delinsCC
NM_032444.4(SLX4):c.286del (p.Thr96fs) rs1596534281
NM_032444.4(SLX4):c.514del (p.Leu172fs) rs1567178071
NM_033022.4(RPS24):c.316C>T (p.Gln106Ter) rs104894188
NM_033022.4(RPS24):c.46C>T (p.Arg16Ter) rs104894189
NM_033022.4(RPS24):c.4_6delinsTACGGATAG (p.Asn2delinsTyrGlyTer) rs116840806
NM_058163.3(TSR2):c.191A>G (p.Glu64Gly) rs786203996
NM_080669.6(SLC46A1):c.1012G>C (p.Gly338Arg) rs281875209
NM_080669.6(SLC46A1):c.194del (p.Gly65fs) rs80338769
NM_080669.6(SLC46A1):c.204_205del (p.Asn68fs) rs397515391
NM_080669.6(SLC46A1):c.23dup (p.Glu9fs) rs397515574
NM_080669.6(SLC46A1):c.337C>A (p.Arg113Ser) rs80338770
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_148923.4(CYB5A):c.130-2A>G rs794728010
NM_148923.4(CYB5A):c.131A>T (p.His44Leu) rs1555688659
NM_148923.4(CYB5A):c.81G>A (p.Trp27Ter) rs1555691399
NM_181697.3(PRDX1):c.515-2A>T rs1379672870
NM_182915.3(STEAP3):c.330C>A (p.Cys110Ter) rs587776963
NM_182916.3(TRNT1):c.1057-7C>G rs368078167
NM_182916.3(TRNT1):c.1142_1143insATGT (p.Trp381Ter) rs606231291
NM_182916.3(TRNT1):c.497T>C (p.Leu166Ser) rs606231289
NM_182916.3(TRNT1):c.569G>T (p.Arg190Ile) rs606231287
NM_182922.4(HEATR3):c.1337G>A (p.Cys446Tyr) rs2150610519
NM_182922.4(HEATR3):c.1751G>A (p.Gly584Glu) rs917466219
NM_182922.4(HEATR3):c.399+1G>T rs2150594383
NM_182922.4(HEATR3):c.400T>C (p.Cys134Arg) rs1184398890
NM_182922.4(HEATR3):c.719C>T (p.Pro240Leu) rs2150600578
NM_198253.2(TERT):c.[2371G>A;2599G>A]
NM_198253.3(TERT):c.164T>A (p.Leu55Gln) rs387907247
NM_198253.3(TERT):c.2146G>A (p.Ala716Thr) rs387907249
NM_198253.3(TERT):c.219+1G>A rs199422309
NM_198253.3(TERT):c.2240del (p.Val747fs) rs199422300
NM_198253.3(TERT):c.2315A>G (p.Tyr772Cys) rs121918663
NM_198253.3(TERT):c.2583-2A>C rs111576740
NM_198253.3(TERT):c.2705A>G (p.Lys902Arg) rs387907250
NM_198253.3(TERT):c.2768C>T (p.Pro923Leu) rs387907251
NM_203342.2(EPB41):c.-159_159del
NM_206965.2(FTCD):c.1366dup (p.Glu456fs) rs777099958
NM_206965.2(FTCD):c.896G>C (p.Arg299Pro) rs119469015
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234
NR_001566.3(TERC):n.108_111delCTGA rs199422270
NR_001566.3(TERC):n.116C>T rs199422272
NR_001566.3(TERC):n.143G>A rs199422274
NR_001566.3(TERC):n.204C>G rs199422277
NR_001566.3(TERC):n.212C>G rs2108183105
NR_001566.3(TERC):n.325G>T rs1777959964
NR_001566.3(TERC):n.72C>G rs199422265
NR_001566.3(TERC):n.98G>A rs199422268
PKLR, 1-BP DEL
RPL5, 5-BP DEL/39-BP INS, NT498
UROS, 80-BP INS
m.6742T>C rs199476126

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