ClinVar Miner

List of variants reported as pathogenic for anemia (disease) by OMIM

Included ClinVar conditions (263):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 853
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HGVS dbSNP
ABCD4, 1456G-T
AMN, IVS3, A-G, -2
APOB, 1-BP DEL, 4432T
APOB, EX21DEL
ATRX, IVSAS, T-A, -10
CD59, 1-BP DEL, CODON 16
DKC1, -141C-G, PROMOTER
FANCA, IVS7DS, G-A, +5
FANCB, 1-BP DEL, 1650T
FANCB, 1-BP INS, 1838T
FANCB, 1-BP INS, 811T
FANCB, 3314-BP DEL
FANCC, 250-BP DEL
FANCD2, 376A-G
FANCD2, EX17 DEL
FANCG, IVS13, G-C, -1
FANCI, 2T-C
FANCI, IVS31AS, A-G, -88
FANCL, 3-BP DEL, 1007TAT
FANCL, 4-BP DUP, 1095AATT
GIF, 4-BP DEL, 183GAAT
GIF, IVS1DS, G-A, +1
GSS, 1-BP DEL, NT3/4G
HBA1, 1-BP DEL, 354C
HBB, 1-BP DEL
HBB, 106-KB DEL
HBG1, C-T, -158
HBG2, HIS63LEU
HBG2, T-G, -567
HK1, 96-BP DEL
HPRT CHERMSIDE
HPRT CHICAGO
HPRT CONNERSVILLE
HPRT COORPAROO
HPRT MICHIGAN
HPRT, 1-BP DEL, TTA-TA
HPRT, 1-BP DEL, TTG-TG
HPRT, 13-BP DEL, 5-PRIME UTR
HPRT, 2-BP DEL, GT
HPRT, 40-BP DEL
HPRT, DEL
HPRT, EX2-3DUP, IVS1DEL
HPRT, EX2DEL
HPRT, EX4-9DEL
HPRT, EX9DEL
HPRT, INV/DEL, EX6-9
HPRT,1-BP INS, 207G
LCAT, 1-BP INS, EX1
LMBRD1, 1-BP DEL, 1056G
MTP, EXON 10 DEL
MTP, IVS, G-A, +5
MTR, IVS3AS, A-G, -166
MTR, IVS6AS, G-A, LYS203
MTRR, 140-BP INS, NT903
MTRR, 2-BP INS, 1623TA
MTRR, 3-BP DEL, 1726TTG
MTRR, 4-BP DEL, NT1675
NC_000012.10:g.54711095_54731551del
NC_000023.11:g.(134493178_134493182)_(134501172_134501176)del
NC_000023.11:g.(154776372_154776374)_(154778317_154778319)del
NC_012920.1:m.8969G>A rs794726857
NM_000032.4(ALAS2):c.-258C>G rs140772352
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.514G>A (p.Ala172Thr) rs137852304
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_000032.5(ALAS2):c.895A>C (p.Lys299Gln) rs137852303
NM_000059.3(BRCA2):c.4648G>T (p.Glu1550Ter) rs80358695
NM_000059.3(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter) rs276174859
NM_000059.3(BRCA2):c.5946del (p.Ser1982fs) rs80359550
NM_000059.3(BRCA2):c.631+1G>A rs81002897
NM_000059.3(BRCA2):c.631+2T>G rs81002899
NM_000059.3(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.3(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000059.3(BRCA2):c.7464_7465insTA (p.Asp2489Ter) rs886038169
NM_000059.3(BRCA2):c.7529T>C (p.Leu2510Pro) rs80358979
NM_000059.3(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065
NM_000059.3(BRCA2):c.8219T>A (p.Leu2740Ter) rs80359070
NM_000059.3(BRCA2):c.8488-1G>A rs397507404
NM_000059.3(BRCA2):c.8732C>A (p.Ala2911Glu) rs80359130
NM_000059.3(BRCA2):c.9196C>T (p.Gln3066Ter) rs80359180
NM_000059.3(BRCA2):c.9672dup (p.Tyr3225fs) rs80359773
NM_000096.3(CP):c.606dupA (p.Asp203Argfs) rs386134143
NM_000096.4(CP):c.1282_1286dup (p.Asp430fs) rs386134145
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_000119.2(EPB42):c.1747G>T (p.Glu583Ter) rs115998465
NM_000119.2(EPB42):c.265delG (p.Val89Trpfs) rs266257354
NM_000119.2(EPB42):c.424G>A (p.Ala142Thr) rs104894487
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(FANCA):c.3788_3790delTCT (p.Phe1263del) rs397507553
NM_000135.2(FANCA):c.894_1006del113 (p.Trp298Cysfs)
NM_000135.2:c.1471_1626del
NM_000135.2:c.1627_1900del
NM_000135.4(FANCA):c.1111_1114TTGG[1] (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.2557C>T (p.Arg853Ter) rs752160950
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs) rs747851434
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs) rs794726660
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe) rs753700179
NM_000135.4(FANCA):c.513G>A (p.Trp171Ter) rs121907930
NM_000136.3(FANCC):c.1487T>G (p.Leu496Arg) rs121917785
NM_000136.3(FANCC):c.1555dup (p.Thr519fs) rs794726667
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000136.3(FANCC):c.165+1G>T rs794726668
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784
NM_000136.3(FANCC):c.456+4A>T rs104886456
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter) rs121917783
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000175.5(GPI):c.1028A>G (p.Gln343Arg) rs267606851
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.14C>T (p.Thr5Ile) rs267606852
NM_000175.5(GPI):c.1574T>C (p.Ile525Thr) rs137853584
NM_000175.5(GPI):c.1615G>A (p.Asp539Asn) rs137853585
NM_000175.5(GPI):c.475G>A (p.Gly159Ser) rs137853582
NM_000175.5(GPI):c.671C>T (p.Thr224Met) rs61754634
NM_000178.4(GSS):c.373C>T (p.Arg125Cys) rs28936396
NM_000178.4(GSS):c.491G>A (p.Arg164Gln) rs121909307
NM_000178.4(GSS):c.656A>G (p.Asp219Gly) rs28938472
NM_000178.4(GSS):c.799C>T (p.Arg267Trp) rs121909308
NM_000178.4(GSS):c.847C>T (p.Arg283Cys) rs121909309
NM_000178.4(GSS):c.941C>T (p.Pro314Leu) rs75863437
NM_000184.2(HBG2):c.-167C>A rs34809449
NM_000184.2(HBG2):c.-167C>T rs34809449
NM_000184.2(HBG2):c.-228T>C rs63750654
NM_000184.2(HBG2):c.-255C>G rs35617911
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.202G>A (p.Val68Met) rs587776864
NM_000186.3(CFH):c.1291T>A (p.Cys431Ser) rs121913056
NM_000186.3(CFH):c.1606T>C (p.Cys536Arg) rs121913052
NM_000186.3(CFH):c.2876G>A (p.Cys959Tyr) rs121913053
NM_000186.3(CFH):c.3628C>T (p.Arg1210Cys) rs121913059
NM_000186.3(CFH):c.380G>T (p.Arg127Leu) rs121913058
NM_000186.3(CFH):c.565G>T (p.Glu189Ter) rs121913054
NM_000186.3(CFH):c.668_670AGA[1] (p.Lys224del) rs796052138
NM_000194.2(HPRT1):c.-707_27+2236del
NM_000194.2(HPRT1):c.122T>C (p.Leu41Pro) rs137852480
NM_000194.2(HPRT1):c.151C>G (p.Arg51Gly) rs137852494
NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter) rs137852494
NM_000194.2(HPRT1):c.155A>G (p.Asp52Gly) rs137852502
NM_000194.2(HPRT1):c.172G>A (p.Gly58Arg) rs137852500
NM_000194.2(HPRT1):c.209G>A (p.Gly70Glu) rs137852487
NM_000194.2(HPRT1):c.211G>C (p.Gly71Arg) rs137852488
NM_000194.2(HPRT1):c.222C>A (p.Phe74Leu) rs137852481
NM_000194.2(HPRT1):c.232C>G (p.Leu78Val) rs137852501
NM_000194.2(HPRT1):c.239A>T (p.Asp80Val) rs137852478
NM_000194.2(HPRT1):c.312C>A (p.Ser104Arg) rs137852485
NM_000194.2(HPRT1):c.329C>T (p.Ser110Leu) rs137852482
NM_000194.2(HPRT1):c.389T>A (p.Val130Asp) rs137852483
NM_000194.2(HPRT1):c.396T>G (p.Ile132Met) rs137852477
NM_000194.2(HPRT1):c.419G>A (p.Gly140Asp) rs137852503
NM_000194.2(HPRT1):c.459T>G (p.Tyr153Ter) rs137852505
NM_000194.2(HPRT1):c.46G>A (p.Gly16Ser) rs137852499
NM_000194.2(HPRT1):c.481G>T (p.Ala161Ser) rs137852484
NM_000194.2(HPRT1):c.503C>T (p.Thr168Ile) rs137852498
NM_000194.2(HPRT1):c.580G>A (p.Asp194Asn) rs267606863
NM_000194.2(HPRT1):c.582C>G (p.Asp194Glu) rs137852504
NM_000194.2(HPRT1):c.595T>G (p.Phe199Val) rs137852486
NM_000194.2(HPRT1):c.602A>G (p.Asp201Gly) rs137852479
NM_000194.2(HPRT1):c.643_*6del21 (p.Lys215fs) rs387906428
NM_000194.3(HPRT1):c.134G>A (p.Arg45Lys) rs137852491
NM_000194.3(HPRT1):c.143G>A (p.Arg48His) rs387906725
NM_000194.3(HPRT1):c.193C>T (p.Leu65Phe) rs137852506
NM_000194.3(HPRT1):c.28-2A>T rs1569354918
NM_000194.3(HPRT1):c.325C>T (p.Gln109Ter) rs137852489
NM_000194.3(HPRT1):c.428T>A (p.Met143Lys) rs137852496
NM_000194.3(HPRT1):c.508C>T (p.Arg170Ter) rs137852497
NM_000194.3(HPRT1):c.527C>T (p.Pro176Leu) rs137852493
NM_000194.3(HPRT1):c.529G>T (p.Asp177Tyr) rs137852492
NM_000194.3(HPRT1):c.532+5G>A rs1569360089
NM_000194.3(HPRT1):c.609+5G>A rs1569360139
NM_000194.3(HPRT1):c.610-4_610-2delinsTTT rs672601245
NM_000194.3(HPRT1):c.610C>G (p.His204Asp) rs137852490
NM_000229.1(LCAT):c.[349G>A;544C>T]
NM_000229.2(LCAT):c.1034C>T (p.Thr345Met) rs28940888
NM_000229.2(LCAT):c.1197dup (p.Gln400fs) rs794726663
NM_000229.2(LCAT):c.321C>A (p.Tyr107Ter) rs121908055
NM_000229.2(LCAT):c.475C>T (p.Arg159Trp) rs28940887
NM_000229.2(LCAT):c.491_493dup (p.Ala165_Ala166insGly) rs794726662
NM_000229.2(LCAT):c.508T>C (p.Trp170Arg) rs267607211
NM_000229.2(LCAT):c.698T>C (p.Leu233Pro) rs28942087
NM_000229.2(LCAT):c.756C>A (p.Asn252Lys) rs121908049
NM_000229.2(LCAT):c.827T>A (p.Met276Lys) rs121908054
NM_000229.2(LCAT):c.951G>A (p.Met317Ile) rs121908048
NM_000253.3(MTTP):c.1237-1G>A rs1560621444
NM_000253.3(MTTP):c.1619G>A (p.Arg540His) rs199422220
NM_000253.3(MTTP):c.1769G>T (p.Ser590Ile) rs199422222
NM_000253.3(MTTP):c.1783C>T (p.Arg595Ter) rs199422219
NM_000253.3(MTTP):c.215del (p.Pro72fs) rs1560614154
NM_000253.3(MTTP):c.2338A>T (p.Asn780Tyr) rs199422221
NM_000253.3(MTTP):c.2593G>T (p.Gly865Ter) rs146064714
NM_000254.2(MTR):c.1228G>C (p.Ala410Pro) rs121913582
NM_000254.2(MTR):c.1753C>T (p.Arg585Ter) rs121913580
NM_000254.2(MTR):c.2112_2113TC[1] (p.Leu705fs) rs797044444
NM_000254.2(MTR):c.2640_2642del (p.Ile881del) rs797044443
NM_000254.2(MTR):c.2758C>G (p.His920Asp) rs121913579
NM_000254.2(MTR):c.3380dup (p.Ala1128fs) rs797044445
NM_000254.2(MTR):c.3518C>T (p.Pro1173Leu) rs121913578
NM_000254.2(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
NM_000289.6(PFKM):c.1628A>C (p.Asp543Ala) rs121918194
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
NM_000291.4(PGK1):c.1132A>C (p.Thr378Pro) rs137852539
NM_000291.4(PGK1):c.140T>A (p.Ile47Asn) rs137852536
NM_000291.4(PGK1):c.263T>C (p.Leu88Pro) rs137852531
NM_000291.4(PGK1):c.473G>T (p.Gly158Val) rs137852532
NM_000291.4(PGK1):c.491A>T (p.Asp164Val) rs137852538
NM_000291.4(PGK1):c.571_573AAG[1] (p.Lys192del) rs431905502
NM_000291.4(PGK1):c.617G>C (p.Arg206Pro) rs137852529
NM_000291.4(PGK1):c.756+5G>A rs431905503
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr) rs137852534
NM_000291.4(PGK1):c.796_798delinsATG (p.Val266Met) rs431905501
NM_000291.4(PGK1):c.802G>A (p.Asp268Asn) rs137852528
NM_000291.4(PGK1):c.854A>T (p.Asp285Val) rs137852535
NM_000291.4(PGK1):c.946T>C (p.Cys316Arg) rs137852533
NM_000291.4(PGK1):c.959G>A (p.Ser320Asn) rs137852537
NM_000298.6(PKLR):c.1151C>T (p.Thr384Met) rs74315362
NM_000298.6(PKLR):c.1261C>A (p.Gln421Lys) rs118204084
NM_000298.6(PKLR):c.1269G>A (p.Ala423=)
NM_000298.6(PKLR):c.1318G>T (p.Glu440Ter)
NM_000298.6(PKLR):c.1436G>A (p.Arg479His) rs118204085
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln) rs113403872
NM_000298.6(PKLR):c.389C>A (p.Ser130Tyr) rs118204089
NM_000298.6(PKLR):c.487C>T (p.Arg163Cys) rs118204083
NM_000324.2(RHAG):c.1067+1G>A rs1562012617
NM_000324.2(RHAG):c.1086del (p.Ala363fs) rs1562011389
NM_000324.2(RHAG):c.1139G>T (p.Gly380Val) rs121918589
NM_000324.2(RHAG):c.154_157delinsGA (p.Pro52fs) rs387906519
NM_000324.2(RHAG):c.157+1G>A rs375508949
NM_000324.2(RHAG):c.182T>G (p.Ile61Arg) rs863225469
NM_000324.2(RHAG):c.194T>C (p.Phe65Ser) rs863225468
NM_000324.2(RHAG):c.236G>A (p.Ser79Asn) rs121918586
NM_000324.2(RHAG):c.3G>T (p.Met1Ile) rs121918588
NM_000324.2(RHAG):c.836G>A (p.Gly279Glu) rs121918587
NM_000324.2(RHAG):c.946-1G>A rs1562012697
NM_000324.2(RHAG):c.[808G>A;838G>A]
NM_000342.3(SLC4A1):c.-62G>A rs387906565
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met) rs28931584
NM_000342.3(SLC4A1):c.2279G>A (p.Arg760Gln) rs121912755
NM_000342.3(SLC4A1):c.2312G>A (p.Gly771Asp) rs121912741
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.268G>A (p.Glu90Lys) rs28929480
NM_000342.3(SLC4A1):c.388G>A (p.Gly130Arg) rs121912749
NM_000342.3(SLC4A1):c.448C>T (p.Arg150Ter) rs56361140
NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg) rs28931583
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.2102G>A (p.Gly701Asp) rs121912748
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.2545_2547GTG[1] (p.Val850del) rs121912752
NM_000355.4(TCN2):c.927_930del (p.Cys309fs) rs1157135425
NM_000373.3(UMPS):c.[286A>G;285G>C]
NM_000373.4(UMPS):c.326T>G (p.Val109Gly) rs121917892
NM_000375.2(UROS):c.148_244del (p.Leu50Serfs)
NM_000375.3(UROS):c.-203T>C rs397515348
NM_000375.3(UROS):c.-26-183G>A rs397515349
NM_000375.3(UROS):c.-26-193C>A rs397515350
NM_000375.3(UROS):c.-26-197C>A rs397515351
NM_000375.3(UROS):c.10C>T (p.Leu4Phe) rs121908015
NM_000375.3(UROS):c.158C>T (p.Pro53Leu) rs121908013
NM_000375.3(UROS):c.184A>G (p.Thr62Ala) rs28941775
NM_000375.3(UROS):c.197C>T (p.Ala66Val) rs28941774
NM_000375.3(UROS):c.217T>C (p.Cys73Arg) rs121908012
NM_000375.3(UROS):c.243A>T (p.Glu81Asp) rs121908018
NM_000375.3(UROS):c.244G>T (p.Val82Phe) rs121908016
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.63+1G>A rs373864821
NM_000375.3(UROS):c.661-31T>G
NM_000375.3(UROS):c.673G>A (p.Gly225Ser) rs121908020
NM_000375.3(UROS):c.683C>T (p.Thr228Met) rs121908014
NM_000375.3(UROS):c.743C>A (p.Pro248Gln) rs121908021
NM_000384.2(APOB):c.11905del (p.Glu3969Asnfs) rs387906569
NM_000384.3(APOB):c.11712del (p.Asn3904fs) rs587776852
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.6253C>T (p.Arg2085Ter) rs121918386
NM_000384.3(APOB):c.7564C>T (p.Arg2522Ter) rs121918390
NM_000384.3(APOB):c.819-2A>G
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.463+8G>C rs200872504
NM_000398.7(CYB5R3):c.464-2A>C rs794728013
NM_000398.7(CYB5R3):c.478C>T (p.Arg160Ter) rs61732609
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.817_819del (p.Met273del) rs794728012
NM_000398.7(CYB5R3):c.895_897del (p.Phe299del) rs121965012
NM_000476.2(AK1):c.118G>A (p.Gly40Arg) rs137853204
NM_000476.2(AK1):c.139del (p.Val47fs) rs387906583
NM_000476.2(AK1):c.190G>A (p.Gly64Arg) rs137853205
NM_000476.2(AK1):c.319C>T (p.Arg107Ter) rs104894102
NM_000476.2(AK1):c.382C>T (p.Arg128Trp) rs104894101
NM_000476.2(AK1):c.418_420GAC[1] (p.Asp141del) rs387906582
NM_000476.2(AK1):c.491A>G (p.Tyr164Cys) rs137853203
NM_000489.5(ATRX):c.20+1G>A rs587776756
NM_000489.5(ATRX):c.236C>G (p.Ser79Ter) rs122445107
NM_000489.5(ATRX):c.4826A>G (p.His1609Arg) rs122445093
NM_000489.5(ATRX):c.4840T>C (p.Cys1614Arg) rs122445094
NM_000489.5(ATRX):c.4862C>T (p.Thr1621Met) rs122445106
NM_000489.5(ATRX):c.4950G>T (p.Lys1650Asn) rs122445095
NM_000489.5(ATRX):c.5225G>A (p.Arg1742Lys) rs122445104
NM_000489.5(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_000489.5(ATRX):c.568C>G (p.Pro190Ala) rs122445103
NM_000489.5(ATRX):c.6104A>T (p.Asp2035Val) rs122445096
NM_000489.5(ATRX):c.6250T>C (p.Tyr2084His) rs122445097
NM_000489.5(ATRX):c.6488A>G (p.Tyr2163Cys) rs122445098
NM_000489.5(ATRX):c.7156C>T (p.Arg2386Ter) rs122445099
NM_000489.5(ATRX):c.7162G>T (p.Glu2388Ter) rs122445100
NM_000489.5(ATRX):c.751A>G (p.Lys251Glu) rs1569539477
NM_000517.6(HBA2):c.2T>C (p.Met1Thr) rs111033603
NM_000517.6(HBA2):c.349G>T (p.Glu117Ter) rs33987053
NM_000517.6(HBA2):c.410T>C (p.Leu137Pro) rs41469945
NM_000517.6(HBA2):c.70G>T (p.Glu24Ter) rs281864819
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.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.20A>T (p.Glu7Val) rs334
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.364G>T (p.Glu122Ter) rs33946267
NM_000518.5(HBB):c.385_388delinsCCACA (p.Ala129fs) rs63750860
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507
NM_000518.5(HBB):c.93-1_94dup rs35348864
NM_000518.5(HBB):c.93G>T (p.Arg31Ser) rs1135071
NM_000558.5(HBA1):c.410T>G (p.Leu137Arg) rs34635364
NM_000558.5(HBA1):c.43T>Y (p.Trp15Xaa) rs33964317
NM_000559.2(HBG1):c.-167C>T rs281860601
NM_000559.2(HBG1):c.-170G>A rs35378915
NM_000559.2(HBG1):c.-53-195C>G rs35321913
NM_000559.2(HBG1):c.-53-196C>T rs35983258
NM_000559.2(HBG1):c.-53-198T>C rs35710727
NM_000617.3(SLC11A2):c.1197G>C (p.Glu399Asp) rs121918365
NM_000617.3(SLC11A2):c.1246C>T (p.Arg416Cys) rs121918366
NM_000617.3(SLC11A2):c.635G>T (p.Gly212Val) rs121918367
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.173_174GA[1] (p.Asp59fs)
NM_000969.5(RPL5):c.235dup (p.Tyr79fs)
NM_000969.5(RPL5):c.244G>T (p.Glu82Ter) rs587777117
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser) rs121434406
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
NM_000975.5(RPL11):c.158-1G>A
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.479_481AGG[1] (p.Glu161del)
NM_000975.5(RPL11):c.58_59CT[1] (p.Cys21fs)
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.79_81CTT[1] (p.Leu28del) rs116840807
NM_000996.4(RPL35A):c.97G>A (p.Val33Ile) rs116840808
NM_001010986.3(ATP11C):c.1253C>A (p.Thr418Asn) rs1556323334
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)
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.1855_1856AG[1] (p.Arg619fs) rs1569083464
NM_001018113.3(FANCB):c.2150T>G (p.Leu717Ter) rs1569083185
NM_001021.6(RPS17):c.159T>G (p.Tyr53Ter) rs6991
NM_001021.6(RPS17):c.199_200AG[1] (p.Gly68fs) rs116840812
NM_001021.6(RPS17):c.2T>G (p.Met1Arg) rs116840811
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_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_001032.4(RPS29):c.149T>C (p.Ile50Thr) rs587777569
NM_001032.4(RPS29):c.91A>T (p.Ile31Phe) rs587777568
NM_001040436.3(YARS2):c.1078C>T (p.Arg360Ter) rs587777214
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.1180G>A (p.Glu394Lys) rs121918680
NM_001063.4(TF):c.1429G>C (p.Ala477Pro) rs121918679
NM_001063.4(TF):c.229G>A (p.Asp77Asn) rs121918681
NM_001082486.2(ACD):c.1213C>A (p.Pro405Thr) rs201441120
NM_001082486.2(ACD):c.250_252del (p.Lys84del) rs797045144
NM_001083116.3(PRF1):c.1163G>T (p.Ser388Ile) rs193302875
NM_001083116.3(PRF1):c.11G>A (p.Arg4His) rs35418374
NM_001099274.3(TINF2):c.838A>G (p.Lys280Glu) rs121918543
NM_001099274.3(TINF2):c.839del (p.Lys280fs)
NM_001099274.3(TINF2):c.844C>A (p.Arg282Ser) rs121918545
NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys) rs121918545
NM_001099274.3(TINF2):c.845G>A (p.Arg282His) rs121918544
NM_001113378.1(FANCI):c.3853C>T (p.Arg1285Ter) rs121918164
NM_001113378.1(FANCI):c.3854G>A (p.Arg1285Gln) rs121918163
NM_001130010.3(C15orf41):c.281A>G (p.Tyr94Cys) rs587777101
NM_001130010.3(C15orf41):c.533T>A (p.Leu178Gln) rs587777100
NM_001142283.1(RPS24):c.4_6delinsTACGGATAG (p.Asn2delinsTyrGlyTer) rs116840806
NM_001142446.2(ANK1):c.1618dup (p.Leu540fs) rs397514029
NM_001142446.2(ANK1):c.5128G>T (p.Glu1710Ter) rs137852829
NM_001142446.2(ANK1):c.5286G>A (p.Trp1762Ter) rs137852830
NM_001142446.2(ANK1):c.5620C>T (p.Arg1874Ter) rs137852831
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.4073G>C (p.Arg1358Pro) rs587776990
NM_001142864.4(PIEZO1):c.6058G>A (p.Ala2020Thr) rs587776989
NM_001142864.4(PIEZO1):c.6380C>T (p.Thr2127Met) rs587776991
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.7477_7482CTGGAG[3] (p.2493_2494LE[3]) rs587776992
NM_001159287.1(TPI1):c.143dup (p.Asn49fs) rs587777441
NM_001159287.1(TPI1):c.426G>C (p.Glu142Asp) rs121964845
NM_001159287.1(TPI1):c.547G>T (p.Glu183Ter) rs121964850
NM_001159287.1(TPI1):c.622A>G (p.Ile208Val) rs121964849
NM_001159287.1(TPI1):c.832T>C (p.Phe278Leu) rs121964847
NM_001159287.1(TPI1):c.833T>C (p.Phe278Ser) rs587777440
NM_001253383.3(RPL15):c.309+91_0del
NM_001258026.1(TPI1):c.-122G>A rs121964848
NM_001271696.3(ABCB7):c.1200T>G (p.Ile400Met) rs72554634
NM_001283009.1(RTEL1):c.3730T>C (p.Cys1244Arg) rs587777037
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674
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.6133_6134GA[3] (p.Lys2046fs) rs863223303
NM_001355436.2(SPTB):c.6157G>C (p.Ala2053Pro) rs121918645
NM_001355436.2(SPTB):c.6177del (p.Ser2060fs)
NM_001355436.2(SPTB):c.6191G>C (p.Arg2064Pro) rs121918650
NM_001355436.2(SPTB):c.6269+3G>T rs863223302
NM_001363.5(DKC1):c.1058C>T (p.Ala353Val) rs121912288
NM_001363.5(DKC1):c.1069A>G (p.Thr357Ala) rs137854492
NM_001363.5(DKC1):c.106T>G (p.Phe36Val) rs121912293
NM_001363.5(DKC1):c.109_111del (p.Leu37del) rs137854489
NM_001363.5(DKC1):c.113T>C (p.Ile38Thr) rs28936072
NM_001363.5(DKC1):c.119C>G (p.Pro40Arg) rs121912292
NM_001363.5(DKC1):c.1205G>A (p.Gly402Glu) rs121912295
NM_001363.5(DKC1):c.1259+1G>A rs1569558616
NM_001363.5(DKC1):c.146C>T (p.Thr49Met) rs121912304
NM_001363.5(DKC1):c.16+592C>G
NM_001363.5(DKC1):c.214_215delinsTA (p.Leu72Tyr) rs121912294
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly) rs121912305
NM_001363.5(DKC1):c.91C>A (p.Gln31Lys) rs137854491
NM_001498.4(GCLC):c.1109A>T (p.His370Leu) rs121907946
NM_001724.5(BPGM):c.61del (p.Arg21fs) rs786205092
NM_002049.3(GATA1):c.220+1del rs587776453
NM_002049.3(GATA1):c.220G>C (p.Val74Leu) rs587776452
NM_002049.3(GATA1):c.2T>C (p.Met1Thr) rs587776451
NM_002049.3(GATA1):c.646C>T (p.Arg216Trp) rs387907207
NM_002049.3(GATA1):c.647G>A (p.Arg216Gln) rs104894809
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.1361C>T (p.Ser454Leu) rs137853062
NM_002454.3(MTRR):c.1459G>A (p.Gly487Arg) rs137853061
NM_002485.4(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_002582.3(PARN):c.962+295_1263-8706del
NM_002582.4(PARN):c.1045C>T (p.Arg349Trp) rs754368658
NM_002582.4(PARN):c.1148C>T (p.Ala383Val) rs786200999
NM_002582.4(PARN):c.659+4_659+7del rs759131762
NM_002582.4(PARN):c.863dup (p.Asn288fs) rs786201001
NM_002582.4(PARN):c.918+1G>T rs756132866
NM_002641.3(PIGA):c.1115del (p.Pro372fs) rs587776725
NM_002641.3(PIGA):c.1188+2del rs587776723
NM_002641.3(PIGA):c.1323_1324del (p.Leu442fs) rs587776728
NM_002641.3(PIGA):c.1355_1356insAATTGAGATGGATGACTCCAGATTCTATCATTGA (p.Asp452delinsGluIleGluMetAspAspSerArgPheTyrHisTer) rs786200912
NM_002641.3(PIGA):c.163C>T (p.Gln55Ter) rs199422233
NM_002641.3(PIGA):c.249_250insGT (p.Thr84fs) rs587776726
NM_002641.3(PIGA):c.294C>A (p.Tyr98Ter) rs199422232
NM_002641.3(PIGA):c.431del (p.Thr144fs) rs587776727
NM_002641.3(PIGA):c.459_460insA (p.His154fs) rs587776724
NM_002875.5(RAD51):c.877G>A (p.Ala293Thr) rs1057519413
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.137G>T (p.Gly46Val) rs121918638
NM_003126.4(SPTA1):c.1412A>C (p.Gln471Pro) rs121918635
NM_003126.4(SPTA1):c.145C>T (p.Leu49Phe) rs121918639
NM_003126.4(SPTA1):c.2373C>A (p.Asp791Glu) rs7418956
NM_003126.4(SPTA1):c.2465-1G>A rs863223305
NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup) rs757679761
NM_003126.4(SPTA1):c.620T>C (p.Leu207Pro) rs121918643
NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro) rs121918634
NM_003126.4(SPTA1):c.781T>C (p.Ser261Pro) rs121918636
NM_003126.4(SPTA1):c.82C>A (p.Arg28Ser) rs121918642
NM_003126.4(SPTA1):c.82C>T (p.Arg28Cys) rs121918642
NM_003126.4(SPTA1):c.83G>A (p.Arg28His) rs121918641
NM_003126.4(SPTA1):c.83G>T (p.Arg28Leu) rs121918641
NM_003647.3(DGKE):c.127C>T (p.Gln43Ter) rs398123008
NM_003647.3(DGKE):c.610del (p.Thr204fs) rs147972030
NM_003647.3(DGKE):c.889-2A>G rs879255231
NM_004134.7(HSPA9):c.1373_1378del (p.Ile458_Asn459del) rs869312659
NM_004134.7(HSPA9):c.409_410del (p.Asp136_Ile137insTer) rs763817505
NM_004299.6(ABCB7):c.1234G>C (p.Val412Leu) rs80356713
NM_004299.6(ABCB7):c.1300G>A (p.Glu434Lys) rs80356714
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.1066C>T (p.Gln356Ter) rs121434426
NM_004629.1(FANCG):c.1480+1G>C rs149616199
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs) rs397507560
NM_004629.1(FANCG):c.307+1G>C rs200479612
NM_004629.1(FANCG):c.313G>T (p.Glu105Ter) rs121434425
NM_004629.1(FANCG):c.637_643del (p.Tyr213fs) rs587776640
NM_004629.1(FANCG):c.925-2A>G rs397507561
NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) rs77375493
NM_005050.4(ABCD4):c.1746_1747insCT (p.Glu583fs) rs387907315
NM_005050.4(ABCD4):c.542+1G>T rs769364566
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys) rs201777056
NM_005142.3(CBLIF):c.1175dup (p.Thr393fs)
NM_005142.3(CBLIF):c.137C>T (p.Ser46Leu) rs121434322
NM_005142.3(CBLIF):c.161del (p.Asn54fs)
NM_005142.3(CBLIF):c.80-1G>A
NM_005236.2(ERCC4):c.1484_1488del (p.Thr495fs) rs397509400
NM_005236.2(ERCC4):c.2065C>A (p.Arg689Ser) rs149364215
NM_005236.2(ERCC4):c.2371_2398dup (p.Ile800fs) rs397509401
NM_005236.2(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_005373.2(MPL):c.1473G>A (p.Trp491Ter) rs121913613
NM_005373.2(MPL):c.1543_1544delinsAA (p.Trp515Lys) rs121913616
NM_005373.2(MPL):c.1544G>T (p.Trp515Leu) rs121913615
NM_005373.2(MPL):c.1904C>T (p.Pro635Leu) rs121913612
NM_005373.2(MPL):c.305G>C (p.Arg102Pro) rs28928907
NM_005373.2(MPL):c.556C>T (p.Gln186Ter) rs121913610
NM_005373.2(MPL):c.769C>T (p.Arg257Cys) rs121913611
NM_005373.2(MPL):c.823C>A (p.Pro275Thr) rs28928908
NM_005373.2:c.1499delT
NM_005373.2:c.1566-1G>T
NM_005475.2(SH2B3):c.603_607del (p.Arg202fs) rs587776885
NM_005689.4(ABCB6):c.1123C>T (p.Arg375Trp) rs764893806
NM_005689.4(ABCB6):c.1124G>A (p.Arg375Gln) rs754667801
NM_005689.4(ABCB6):c.2168G>A (p.Arg723Gln) rs148211042
NM_006341.4(MAD2L2):c.254T>A (p.Val85Glu) rs1057517674
NM_006363.6(SEC23B):c.1588C>T (p.Arg530Trp) rs121918223
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys) rs121918221
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp) rs121918222
NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter) rs121918226
NM_006363.6(SEC23B):c.790C>T (p.Arg264Ter) rs121918224
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter) rs121918225
NM_006516.3(SLC2A1):c.1303_1305ATC[1] (p.Ile436del) rs864309522
NM_006516.3(SLC2A1):c.857G>A (p.Gly286Asp) rs864309514
NM_006563.4(KLF1):c.973G>A (p.Glu325Lys) rs267607201
NM_006947.4(SRP72):c.1060_1061CA[2] (p.Thr355fs) rs587776907
NM_006947.4(SRP72):c.620G>A (p.Arg207His) rs387907189
NM_006996.3(SLC19A2):c.1074G>A (p.Trp358Ter) rs74315375
NM_006996.3(SLC19A2):c.1146_1147TG[1] (p.Val383fs)
NM_006996.3(SLC19A2):c.152C>T (p.Pro51Leu) rs121908540
NM_006996.3(SLC19A2):c.242dup (p.Tyr81Ter)
NM_006996.3(SLC19A2):c.429_430del (p.Ile145fs)
NM_006996.3(SLC19A2):c.484C>T (p.Arg162Ter) rs74315373
NM_006996.3(SLC19A2):c.515G>A (p.Gly172Asp) rs28937595
NM_006996.3(SLC19A2):c.725del (p.Pro242fs)
NM_006996.3(SLC19A2):c.750G>A (p.Trp250Ter) rs74315374
NM_006996.3(SLC19A2):c.885del (p.Leu296fs)
NM_007055.3(POLR3A):c.-6128_-995del
NM_007294.3(BRCA1):c.1115G>A (p.Trp372Ter) rs397508838
NM_007294.3(BRCA1):c.1292T>G (p.Leu431Ter) rs80357346
NM_007294.3(BRCA1):c.2457del (p.Asp821fs) rs80357669
NM_007294.3(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.3(BRCA1):c.594_597delTGTG rs797045175
NM_007298.3(BRCA1):c.788-1790T>A rs1555589094
NM_007299.4(BRCA1):c.1895T>C (p.Val632Ala) rs45553935
NM_012461.3(TINF2):c.805C>T (p.Gln269Ter) rs387907153
NM_012461.3(TINF2):c.811C>T (p.Gln271Ter) rs387907154
NM_012461.3(TINF2):c.826del (p.Arg276fs) rs863223324
NM_014176.4(UBE2T):c.179+5G>A rs796052212
NM_014176.4(UBE2T):c.4C>G (p.Gln2Glu) rs774357609
NM_014646.2(LPIN2):c.2201C>T (p.Ser734Leu) rs80338807
NM_014646.2(LPIN2):c.540_541del (p.Thr180_Cys181insTer) rs80338806
NM_015365.3(AMMECR1):c.502C>T (p.Arg168Ter) rs1057519338
NM_015365.3(AMMECR1):c.530G>A (p.Gly177Asp) rs1057519337
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015506.2(MMACHC):c.482G>A rs121918243
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.276G>T (p.Glu92Asp) rs556977618
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro) rs121918240
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241
NM_015506.3(MMACHC):c.464G>A (p.Gly155Glu) rs606231425
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889
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.419dup (p.Tyr140Ter) rs397509363
NM_015702.3(MMADHC):c.696+3_696+6del rs397509364
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter) rs118204048
NM_016038.2(SBDS):c.183_184delTAinsCT (p.Lys62Ter) rs113993991
NM_016038.4(SBDS):c.24C>A (p.Asn8Lys) rs28942099
NM_016038.4(SBDS):c.258+2T>C rs113993993
NM_016417.3(GLRX5):c.294A>G (p.Gln98=) rs121908584
NM_016417.3(GLRX5):c.301A>C (p.Lys101Gln) rs869312752
NM_016417.3(GLRX5):c.443T>C (p.Leu148Ser) rs765487627
NM_016434.3(RTEL1):c.1476G>T (p.Met492Ile) rs370343781
NM_016434.3(RTEL1):c.1773G>T (p.Glu591Asp) rs398123051
NM_016434.3(RTEL1):c.1861G>A (p.Ala621Thr) rs398123052
NM_016434.3(RTEL1):c.2097C>G (p.Ile699Met) rs398123048
NM_016434.3(RTEL1):c.2141+5G>A rs398123050
NM_016434.3(RTEL1):c.2216G>T (p.Gly739Val) rs398123016
NM_016434.3(RTEL1):c.2233G>A (p.Val745Met) rs398123049
NM_016434.3(RTEL1):c.2869C>T (p.Arg957Trp) rs398123018
NM_016434.3(RTEL1):c.2920C>T (p.Arg974Ter) rs398123017
NM_016434.3(RTEL1):c.751G>A (p.Glu251Lys) rs398123019
NM_016489.12(NT5C3A):c.384dupA (p.Ala129Serfs) rs397518437
NM_016489.13(NT5C3A):c.293A>T (p.Asp98Val) rs104894025
NM_016489.13(NT5C3A):c.529C>T (p.Gln177Ter) rs104894026
NM_016489.13(NT5C3A):c.543T>G (p.Tyr181Ter) rs104894027
NM_016489.13(NT5C3A):c.569A>G (p.Asn190Ser) rs104894028
NM_016489.13(NT5C3A):c.577del (p.Asp193fs) rs397518438
NM_016489.13(NT5C3A):c.592-1G>C rs397518435
NM_016489.13(NT5C3A):c.592-1G>T rs397518435
NM_016489.13(NT5C3A):c.721G>C (p.Gly241Arg) rs104894029
NM_016489.13(NT5C3A):c.742_743dup (p.Val249fs) rs397518436
NM_017875.4(SLC25A38):c.277-1G>A rs869312029
NM_017875.4(SLC25A38):c.320_321CT[2] (p.Tyr109fs) rs869320719
NM_017875.4(SLC25A38):c.349C>T (p.Arg117Ter) rs121918330
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.268del (p.Leu90fs) rs869320684
NM_018062.3(FANCL):c.430del (p.Ser144fs) rs869320685
NM_018062.3(FANCL):c.822-15_822-9delins177
NM_018081.2(WRAP53):c.1126C>T (p.His376Tyr) rs281865549
NM_018081.2(WRAP53):c.1192C>T (p.Arg398Trp) rs281865548
NM_018081.2(WRAP53):c.1303G>A (p.Gly435Arg) rs281865550
NM_018081.2(WRAP53):c.492C>A (p.Phe164Leu) rs281865547
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_018648.3(NOP10):c.100C>T (p.Arg34Trp) rs121908092
NM_020207.5(ERCC6L2):c.1236_1239del (p.Thr413fs) rs886037662
NM_020207.5(ERCC6L2):c.1963C>T (p.Arg655Ter) rs147948835
NM_021083.4(XK):c.1013del (p.Phe338fs)
NM_021083.4(XK):c.508+1G>A
NM_021083.4(XK):c.509-1G>A
NM_021083.4(XK):c.880T>C (p.Cys294Arg) rs28933690
NM_021083.4(XK):c.895C>T (p.Gln299Ter) rs104894954
NM_021083.4(XK):c.941G>A (p.Trp314Ter) rs104894953
NM_021922.2(FANCE):c.1114-8G>A rs878854342
NM_021922.2(FANCE):c.355C>T (p.Gln119Ter) rs121434505
NM_021922.2(FANCE):c.421C>T (p.Arg141Ter) rs121434506
NM_022725.3(FANCF):c.16C>T (p.Gln6Ter) rs104894221
NM_022725.3(FANCF):c.230_252del (p.Val77fs) rs730880277
NM_022725.3(FANCF):c.327C>G (p.Tyr109Ter) rs104894222
NM_022725.3(FANCF):c.351_397del (p.Gly120fs) rs730880278
NM_022725.3(FANCF):c.480_481CT[2] (p.Leu162fs) rs587778340
NM_022762.5(RMND5B):c.*1683A>T rs121908091
NM_022762.5(RMND5B):c.*1728A>G rs121908089
NM_022762.5(RMND5B):c.*1767C>T rs121908090
NM_024580.6(EFL1):c.2645T>A (p.Met882Lys) rs1316615934
NM_024580.6(EFL1):c.3284G>A (p.Arg1095Gln) rs376095522
NM_024675.3(PALB2):c.1653T>A (p.Tyr551Ter) rs118203997
NM_024675.3(PALB2):c.2962C>T (p.Gln988Ter) rs118203999
NM_024675.3(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_024675.3(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998
NM_025215.6(PUS1):c.430C>T (p.Arg144Trp) rs104894371
NM_025215.6(PUS1):c.658G>T (p.Glu220Ter) rs104894372
NM_025215.6(PUS1):c.883C>T (p.Arg295Trp) rs869025309
NM_032043.2(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097
NM_032043.2(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986
NM_032444.4(SLX4):c.1093del (p.Gln365fs)
NM_032444.4(SLX4):c.1163+2T>A rs773642409
NM_032444.4(SLX4):c.286del (p.Thr96fs)
NM_032444.4(SLX4):c.514del (p.Leu172fs) rs1567178071
NM_032609.3(COX4I2):c.412G>A (p.Glu138Lys) rs119455950
NM_032957.4(RTEL1):c.3028C>T rs373740199
NM_033022.3(RPS24):c.316C>T (p.Gln106Ter) rs104894188
NM_033022.3(RPS24):c.46C>T (p.Arg16Ter) rs104894189
NM_033084.5(FANCD2):c.3707G>A (p.Arg1236His) rs121917786
NM_033084.5(FANCD2):c.904C>T (p.Arg302Trp) rs121917787
NM_033084.5(FANCD2):c.958C>T (p.Gln320Ter) rs121917788
NM_033500.2(HK1):c.1550T>C (p.Leu517Ser) rs137853249
NM_033500.2(HK1):c.2003C>G (p.Thr668Ser) rs398122379
NM_058163.3(TSR2):c.191A>G (p.Glu64Gly) rs786203996
NM_058216.3(RAD51C):c.773G>A (p.Arg258His) rs267606997
NM_080669.6(SLC46A1):c.1004C>A (p.Ala335Asp) rs281875208
NM_080669.6(SLC46A1):c.1012G>C (p.Gly338Arg) rs281875209
NM_080669.6(SLC46A1):c.1082-1G>A rs80338775
NM_080669.6(SLC46A1):c.1126C>T (p.Arg376Trp) rs80338773
NM_080669.6(SLC46A1):c.194del (p.Gly65fs) rs80338769
NM_080669.6(SLC46A1):c.204_205del (p.Asn68fs) rs397515391
NM_080669.6(SLC46A1):c.337C>A (p.Arg113Ser) rs80338770
NM_080669.6(SLC46A1):c.337C>T (p.Arg113Cys) rs80338770
NM_080669.6(SLC46A1):c.954C>G (p.Ser318Arg) rs80338772
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu) rs120074167
NM_138477.4(CDAN1):c.1117_1119del (p.Val373del) rs120074169
NM_138477.4(CDAN1):c.1796A>G (p.Asn599Ser) rs120074166
NM_138477.4(CDAN1):c.1860+5G>A rs113313967
NM_138477.4(CDAN1):c.2602T>A (p.Phe868Ile) rs120074168
NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp) rs80338697
NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu) rs80338699
NM_139276.2(STAT3):c.1032G>C (p.Gln344His) rs869312887
NM_139276.2(STAT3):c.1175A>G (p.Lys392Arg) rs587777648
NM_139276.2(STAT3):c.1938C>G (p.Asn646Lys) rs587777649
NM_139276.2(STAT3):c.1974G>C (p.Lys658Asn) rs587777650
NM_139276.2(STAT3):c.1988C>T (p.Thr663Ile) rs869312889
NM_139276.2(STAT3):c.2107G>A (p.Ala703Thr) rs869312894
NM_139276.2(STAT3):c.2147C>T (p.Thr716Met) rs869312892
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_153609.3(TMPRSS6):c.1065C>A (p.Tyr355Ter) rs137853121
NM_153609.3(TMPRSS6):c.1179T>G (p.Tyr393Ter) rs137853122
NM_153609.3(TMPRSS6):c.1324G>A (p.Gly442Arg) rs137853119
NM_153609.3(TMPRSS6):c.1382del (p.Glu461fs)
NM_153609.3(TMPRSS6):c.1561G>A (p.Asp521Asn) rs137853120
NM_153609.3(TMPRSS6):c.1564G>A (p.Glu522Lys) rs387907018
NM_153609.3(TMPRSS6):c.1582+1G>A rs786205058
NM_153609.3(TMPRSS6):c.1795C>T (p.Arg599Ter) rs137853123
NM_153609.3(TMPRSS6):c.1813del (p.Ala605fs) rs767094129
NM_153609.3(TMPRSS6):c.1904_1905dup (p.Lys636fs) rs869320724
NM_153609.3(TMPRSS6):c.2055_2058dup (p.Val687fs) rs786205060
NM_153609.3(TMPRSS6):c.2140+1G>C rs786205059
NM_153609.3(TMPRSS6):c.353C>A (p.Ala118Asp) rs267607121
NM_181697.3(PRDX1):c.515-1G>T rs751828470
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.461C>T (p.Thr154Ile) rs606231290
NM_182916.3(TRNT1):c.497T>C (p.Leu166Ser) rs606231289
NM_182916.3(TRNT1):c.569G>T (p.Arg190Ile) rs606231287
NM_182916.3(TRNT1):c.668T>C (p.Ile223Thr) rs370011798
NM_184041.4(ALDOA):c.386A>G (p.Asp129Gly) rs121909533
NM_184041.4(ALDOA):c.619G>A (p.Glu207Lys) rs121909534
NM_198253.2(TERT):c.1234C>T (p.His412Tyr) rs34094720
NM_198253.2(TERT):c.164T>A (p.Leu55Gln) rs387907247
NM_198253.2(TERT):c.1892G>A (p.Arg631Gln) rs199422294
NM_198253.2(TERT):c.2080G>A (p.Val694Met) rs121918662
NM_198253.2(TERT):c.2110C>T (p.Pro704Ser) rs199422297
NM_198253.2(TERT):c.2146G>A (p.Ala716Thr) rs387907249
NM_198253.2(TERT):c.219+1G>A rs199422309
NM_198253.2(TERT):c.2240del (p.Val747fs) rs199422300
NM_198253.2(TERT):c.2315A>G (p.Tyr772Cys) rs121918663
NM_198253.2(TERT):c.2431C>T (p.Arg811Cys) rs199422301
NM_198253.2(TERT):c.2583-2A>C rs111576740
NM_198253.2(TERT):c.2594G>A (p.Arg865His) rs121918666
NM_198253.2(TERT):c.2701C>T (p.Arg901Trp) rs199422304
NM_198253.2(TERT):c.2705A>G (p.Lys902Arg) rs387907250
NM_198253.2(TERT):c.2706G>C (p.Lys902Asn) rs121918665
NM_198253.2(TERT):c.2768C>T (p.Pro923Leu) rs387907251
NM_198253.2(TERT):c.3268G>A (p.Val1090Met) rs121918664
NM_198253.2(TERT):c.508G>A (p.Val170Met) rs387907248
NM_198253.2(TERT):c.604G>A (p.Ala202Thr) rs121918661
NM_198253.2(TERT):c.[2371G>A;2599G>A]
NM_199186.2(BPGM):c.268C>T (p.Arg90Cys) rs121964925
NM_203330.2(CD59):c.146del (p.Asp49fs) rs587777149
NM_203330.2(CD59):c.266G>A (p.Cys89Tyr) rs397514767
NM_203342.2(EPB41):c.-159_159del
NM_203342.2(EPB41):c.2T>C (p.Met1Thr) rs121434564
NM_203342.2(EPB41):c.2T>G (p.Met1Arg) rs121434564
NM_206965.2(FTCD):c.403C>T (p.Arg135Cys) rs28941768
NM_206965.2(FTCD):c.896G>C (p.Arg299Pro) rs119469015
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234
NR_001566.1(TERC):n.107_108delinsAG rs199476393
NR_001566.1(TERC):n.110_113del rs199422270
NR_001566.1(TERC):n.116C>T rs199422272
NR_001566.1(TERC):n.204C>G rs199422277
NR_001566.1(TERC):n.374_1194del821 rs1553915517
NR_001566.1(TERC):n.408C>G rs199422284
NR_001566.1(TERC):n.54_57del rs199422263
NR_001566.1(TERC):n.58G>A rs113487931
NR_001566.1(TERC):n.72C>G rs199422265
NR_001566.1(TERC):n.98G>A rs199422268
PALB2:c.49-?_2586+?del
PFKM, IVS5DS, G-A, +1
PIEZO1, E756DEL
PIGA, IVS5DS, G-A, +1, SOMATIC
PKLR, -83G-C
PKLR, 1-BP DEL
PKLR, 1-BP DEL, 823G
RPL5, 5-BP DEL/39-BP INS, NT498
RPS17, 2.9-KB DEL
RPS19, LEU45GLN AND 2-BP INS, 160CT
SBDS, 1-BP INS, 96A
SLC11A2, 3-BP DEL, 310CTT
SLC11A2, 3-BP DEL, 428GTG
SLC46A1, 1-BP INS, 17C
SLX4, 4,890-BP DEL/2-BP INS
SLX4, IVS5DS, 1-BP DUP, T, +3
SPTA1, EX5DEL, SVA RETROTRANSPOSON INS
SPTA1, IVS30, C-T, -99
SPTB, EX22-23DEL
TERC, 143G-A
TERC, 212C-G
TERC, 325G-T
TF, 10-BP DEL AND 9-BP DUP
UROS, 80-BP INS
XK, 1-BP DEL
XK, 13-BP DEL
nsv1197578

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