ClinVar Miner

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

Included ClinVar conditions (262):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 334
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HGVS dbSNP
NC_000001.10:g.(196712876_196712928)_(196797494_196797546)del
NG_000006.1:g.32867_38062del5196
NG_000006.1:g.34164_37967del3804
NM_000096.3(CP):c.1209_1210dupTG (p.Asp404Valfs) rs386134138
NM_000096.3(CP):c.606dupA (p.Asp203Argfs) rs386134143
NM_000096.4(CP):c.1049C>A (p.Ala350Asp) rs386134127
NM_000096.4(CP):c.1123T>C (p.Tyr375His) rs386134128
NM_000096.4(CP):c.1209-2A>G rs386134137
NM_000096.4(CP):c.1257_1258del (p.Ser419_Tyr420insTer) rs386134144
NM_000096.4(CP):c.1282_1286dup (p.Asp430fs) rs386134145
NM_000096.4(CP):c.146+1G>A rs386134134
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458
NM_000096.4(CP):c.1865-1G>A rs386134139
NM_000096.4(CP):c.1874G>A (p.Gly625Glu) rs386134129
NM_000096.4(CP):c.1918del (p.Asp640fs) rs386134146
NM_000096.4(CP):c.2066del (p.Pro689fs) rs386134147
NM_000096.4(CP):c.2068del (p.Asp690fs) rs386134148
NM_000096.4(CP):c.2131C>A (p.Gln711Lys) rs386134130
NM_000096.4(CP):c.2158C>T (p.Arg720Trp) rs145784949
NM_000096.4(CP):c.2185del (p.Leu729fs) rs587777922
NM_000096.4(CP):c.229G>C (p.Asp77His) rs200683433
NM_000096.4(CP):c.2389del (p.Glu797fs) rs386134149
NM_000096.4(CP):c.2482del (p.Ala828fs) rs386134150
NM_000096.4(CP):c.2511dup (p.Gly838fs) rs386134151
NM_000096.4(CP):c.2554+1G>T rs386134140
NM_000096.4(CP):c.2603del (p.Gly868fs) rs386134152
NM_000096.4(CP):c.2630G>A (p.Trp877Ter) rs121909579
NM_000096.4(CP):c.2675G>A (p.Gly892Glu) rs386134131
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388
NM_000096.4(CP):c.2689_2690del (p.Leu897fs) rs386134153
NM_000096.4(CP):c.2701C>T (p.Arg901Ter) rs386134156
NM_000096.4(CP):c.2879-1G>A rs386134141
NM_000096.4(CP):c.2917dup (p.Thr973fs) rs386134154
NM_000096.4(CP):c.2953A>G (p.Met985Val) rs386134132
NM_000096.4(CP):c.2962G>A (p.Gly988Ser) rs386134133
NM_000096.4(CP):c.2991T>G (p.His997Gln) rs34394958
NM_000096.4(CP):c.3019-1G>A rs386134142
NM_000096.4(CP):c.395-1G>A rs386134135
NM_000096.4(CP):c.493C>G (p.Gln165Glu) rs386134122
NM_000096.4(CP):c.548T>C (p.Ile183Thr) rs386134123
NM_000096.4(CP):c.587C>G (p.Pro196Arg) rs386134124
NM_000096.4(CP):c.607+1G>A rs386134136
NM_000096.4(CP):c.643C>T (p.Arg215Ter) rs386134155
NM_000096.4(CP):c.650T>C (p.Phe217Ser) rs386134125
NM_000096.4(CP):c.82A>T (p.Ile28Phe) rs386134121
NM_000096.4(CP):c.848G>C (p.Trp283Ser) rs386134126
NM_000119.2(EPB42):c.424G>A (p.Ala142Thr) rs104894487
NM_000119.2(EPB42):c.929G>A (p.Arg310Gln) rs121917734
NM_000119.3(EPB42):c.523G>T (p.Asp175Tyr) rs143682977
NM_000119.3(EPB42):c.920C>T (p.Thr307Ile) rs515726211
NM_000119.3(EPB42):c.949C>T (p.Arg317Cys) rs515726212
NM_000119.3(EPB42):c.950del (p.Arg317fs) rs515726213
NM_000135.2(FANCA):c.3788_3790delTCT (p.Phe1263del) rs397507553
NM_000135.4(FANCA):c.1111_1114TTGG[1] (p.Val372fs) rs397507552
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
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.67del (p.Asp23fs) rs104886459
NM_000186.3(CFH):c.3572C>T (p.Ser1191Leu) rs460897
NM_000186.3(CFH):c.3590T>C (p.Val1197Ala) rs460184
NM_000204.4(CFI):c.782G>A (p.Gly261Asp) rs112534524
NM_000253.3(MTTP):c.1304T>A (p.Leu435His) rs1560621495
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.2237G>A (p.Gly746Glu) rs767833468
NM_000253.3(MTTP):c.2338A>T (p.Asn780Tyr) rs199422221
NM_000375.3(UROS):c.-203T>C rs397515348
NM_000375.3(UROS):c.-219C>A rs4385801
NM_000375.3(UROS):c.-26-183G>A rs397515349
NM_000375.3(UROS):c.-26-197C>A rs397515351
NM_000375.3(UROS):c.139T>C (p.Ser47Pro) rs397515527
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.244G>T (p.Val82Phe) rs121908016
NM_000375.3(UROS):c.311C>T (p.Ala104Val) rs397515528
NM_000375.3(UROS):c.673G>A (p.Gly225Ser) rs121908020
NM_000489.5(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln) rs41464951
NM_000517.4(HBA2):c.95+2_95+6delTGAGG rs41474145
NM_000517.4:c.[-2_-3delAC;-alpha3.7]
NM_000517.4:c.[339C>G;340_351delCTCCCCGCCGAG]
NM_000517.6(HBA2):c.*94A>G rs63751269
NM_000517.6(HBA2):c.207C>G (p.Asn69Lys) rs111033601
NM_000517.6(HBA2):c.2T>C (p.Met1Thr) rs111033603
NM_000517.6(HBA2):c.377T>C (p.Leu126Pro) rs41397847
NM_000517.6(HBA2):c.92_93AG[1] (p.Arg32fs) rs1057519637
NM_000518.4(HBB):c.126_129delCTTT (p.Phe42fs) rs80356821
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165
NM_000518.4(HBB):c.27dupG (p.Ser10Valfs*14) rs35699606
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.4:c.91+6T>C
NM_000518.5(HBB):c.*110T>C rs33978907
NM_000518.5(HBB):c.*111A>G rs63751128
NM_000518.5(HBB):c.*113A>G rs33985472
NM_000518.5(HBB):c.*6C>G rs34809925
NM_000518.5(HBB):c.-136C>G rs33994806
NM_000518.5(HBB):c.-137C>A rs33941377
NM_000518.5(HBB):c.-137C>G rs33941377
NM_000518.5(HBB):c.-137C>T rs33941377
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000518.5(HBB):c.-138C>T rs33944208
NM_000518.5(HBB):c.-140C>T rs34999973
NM_000518.5(HBB):c.-142C>T rs34883338
NM_000518.5(HBB):c.-151C>T rs63751208
NM_000518.5(HBB):c.-18C>G rs34135787
NM_000518.5(HBB):c.-29G>A rs34704828
NM_000518.5(HBB):c.-41del rs35352549
NM_000518.5(HBB):c.-50A>C rs34305195
NM_000518.5(HBB):c.-78A>G rs33931746
NM_000518.5(HBB):c.-79A>G rs34598529
NM_000518.5(HBB):c.-80T>A rs33980857
NM_000518.5(HBB):c.-81A>G rs33981098
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407
NM_000518.5(HBB):c.135del (p.Phe46fs) rs80356820
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_000518.5(HBB):c.25_26del (p.Lys9fs) rs35497102
NM_000518.5(HBB):c.315+1G>A rs33945777
NM_000518.5(HBB):c.316-106C>G rs34690599
NM_000518.5(HBB):c.316-197C>T rs34451549
NM_000518.5(HBB):c.316-2A>C rs33914668
NM_000518.5(HBB):c.316-2A>G rs33914668
NM_000518.5(HBB):c.316-7C>G rs34483965
NM_000518.5(HBB):c.52A>T (p.Lys18Ter) rs33986703
NM_000518.5(HBB):c.59A>G (p.Asn20Ser) rs33972047
NM_000518.5(HBB):c.75T>A (p.Gly25=) rs33951465
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) rs35424040
NM_000518.5(HBB):c.92+1G>A rs33971440
NM_000518.5(HBB):c.92+5G>C rs33915217
NM_000518.5(HBB):c.92+6T>C rs35724775
NM_000518.5(HBB):c.93-21G>A rs35004220
NM_000558.5(HBA1):c.207C>A (p.Asn69Lys) rs1060339
NM_000558.5(HBA1):c.223G>C (p.Asp75His) rs28928875
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_001011.4(RPS7):c.147+1G>A rs397507554
NM_001021.6(RPS17):c.199_200AG[1] (p.Gly68fs) rs116840812
NM_001021.6(RPS17):c.2T>G (p.Met1Arg) rs116840811
NM_001082486.2(ACD):c.1213C>A (p.Pro405Thr) rs201441120
NM_001082486.2(ACD):c.250_252del (p.Lys84del) rs797045144
NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser) rs199422321
NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr) rs142777869
NM_001099274.3(TINF2):c.838A>G (p.Lys280Glu) rs121918543
NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys) rs199422322
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.847C>T (p.Pro283Ser) rs199422311
NM_001099274.3(TINF2):c.849dup (p.Thr284fs) rs199422315
NM_001099274.3(TINF2):c.892del (p.Gln298fs) rs199422320
NM_001130010.3(C15orf41):c.281A>G (p.Tyr94Cys) rs587777101
NM_001130010.3(C15orf41):c.533T>A (p.Leu178Gln) rs587777100
NM_001271696.3(ABCB7):c.1200T>G (p.Ile400Met) rs72554634
NM_001271696.3(ABCB7):c.624A>T (p.Glu208Asp) rs515726147
NM_001363.4(DKC1):c.-142C>G rs199422241
NM_001363.5(DKC1):c.1049T>C (p.Met350Thr) rs121912300
NM_001363.5(DKC1):c.1050G>A (p.Met350Ile) rs121912298
NM_001363.5(DKC1):c.1058C>T (p.Ala353Val) rs121912288
NM_001363.5(DKC1):c.106T>G (p.Phe36Val) rs121912293
NM_001363.5(DKC1):c.1075G>A (p.Asp359Asn) rs199422249
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.1150C>T (p.Pro384Ser) rs199422250
NM_001363.5(DKC1):c.1151C>T (p.Pro384Leu) rs199422251
NM_001363.5(DKC1):c.1156G>A (p.Ala386Thr) rs199422252
NM_001363.5(DKC1):c.115A>G (p.Lys39Glu) rs121912296
NM_001363.5(DKC1):c.1193T>C (p.Leu398Pro) rs199422253
NM_001363.5(DKC1):c.119C>G (p.Pro40Arg) rs121912292
NM_001363.5(DKC1):c.1204G>A (p.Gly402Arg) rs121912299
NM_001363.5(DKC1):c.1205G>A (p.Gly402Glu) rs121912295
NM_001363.5(DKC1):c.121G>A (p.Glu41Lys) rs121912302
NM_001363.5(DKC1):c.1223C>T (p.Thr408Ile) rs199422254
NM_001363.5(DKC1):c.1226C>T (p.Pro409Leu) rs121912289
NM_001363.5(DKC1):c.127A>G (p.Lys43Glu) rs199422243
NM_001363.5(DKC1):c.146C>T (p.Thr49Met) rs121912304
NM_001363.5(DKC1):c.194G>C (p.Arg65Thr) rs121912301
NM_001363.5(DKC1):c.196A>G (p.Thr66Ala) rs121912297
NM_001363.5(DKC1):c.200C>T (p.Thr67Ile) rs199422244
NM_001363.5(DKC1):c.204C>A (p.His68Gln) rs199422245
NM_001363.5(DKC1):c.29C>T (p.Pro10Leu) rs199422242
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly) rs121912305
NM_001363.5(DKC1):c.472C>T (p.Arg158Trp) rs199422246
NM_001363.5(DKC1):c.5C>T (p.Ala2Val) rs121912303
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg) rs146700772
NM_001363.5(DKC1):c.911G>A (p.Ser304Asn) rs199422247
NM_001363.5(DKC1):c.91C>A (p.Gln31Lys) rs137854491
NM_001363.5(DKC1):c.91C>G (p.Gln31Glu) rs137854491
NM_001363.5(DKC1):c.941A>G (p.Lys314Arg) rs199422248
NM_001363.5(DKC1):c.949C>G (p.Leu317Val) rs121912290
NM_001363.5(DKC1):c.949C>T (p.Leu317Phe) rs121912290
NM_001363.5(DKC1):c.961C>G (p.Leu321Val) rs2728726
NM_001363.5(DKC1):c.965G>A (p.Arg322Gln) rs121912291
NM_001701.4(BAAT):c.858C>G (p.Ser286=) rs80356746
NM_001701.4(BAAT):c.967A>G (p.Ile323Val) rs80356747
NM_002049.3(GATA1):c.1240T>C (p.Ter414Arg) rs587776456
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.613G>A (p.Val205Met) rs104894815
NM_002049.3(GATA1):c.622G>C (p.Gly208Arg) rs587776454
NM_002049.3(GATA1):c.622_623delGGinsTC (p.Gly208Ser) rs137852312
NM_002049.3(GATA1):c.646C>T (p.Arg216Trp) rs387907207
NM_002049.3(GATA1):c.647G>A (p.Arg216Gln) rs104894809
NM_002049.3(GATA1):c.652G>T (p.Asp218Tyr) rs104894808
NM_002049.3(GATA1):c.653A>G (p.Asp218Gly) rs104894816
NM_002049.3(GATA1):c.994G>T (p.Gly332Cys) rs587776455
NM_004299.6(ABCB7):c.1234G>C (p.Val412Leu) rs80356713
NM_004299.6(ABCB7):c.1300G>A (p.Glu434Lys) rs80356714
NM_004629.1(FANCG):c.1183_1192del (p.Glu395fs) rs397507559
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.925-2A>G rs397507561
NM_005332.2(HBZ):c.330_*22601del
NM_012461.3(TINF2):c.838A>T (p.Lys280Ter) rs121918543
NM_012461.3(TINF2):c.847C>G (p.Pro283Ala) rs199422311
NM_012461.3(TINF2):c.848C>A (p.Pro283His) rs199422313
NM_012461.3(TINF2):c.850A>G (p.Thr284Ala) rs199422314
NM_012461.3(TINF2):c.860T>C (p.Leu287Pro) rs199422316
NM_012461.3(TINF2):c.862T>C (p.Phe288Leu) rs199422317
NM_012461.3(TINF2):c.865_866delinsAG (p.Pro289Ser) rs199422318
NM_012461.3(TINF2):c.871A>G (p.Arg291Gly) rs199422319
NM_014646.2(LPIN2):c.1312_1313CT[2] (p.Ser439fs) rs318240736
NM_014646.2(LPIN2):c.2201C>T (p.Ser734Leu) rs80338807
NM_014646.2(LPIN2):c.2327+1G>C rs80338808
NM_014646.2(LPIN2):c.540_541del (p.Thr180_Cys181insTer) rs80338806
NM_015702.3(MMADHC):c.133dup (p.Ala45fs) rs864309740
NM_015702.3(MMADHC):c.160C>T (p.Arg54Ter) rs118204047
NM_015702.3(MMADHC):c.228dup (p.Asn77fs) rs864309741
NM_015702.3(MMADHC):c.307_324dup (p.Leu103_Ser108dup) rs397509362
NM_015702.3(MMADHC):c.455dup (p.Cys153fs) rs864309743
NM_015702.3(MMADHC):c.57_64del (p.Cys19_Ser20insTer) rs397509361
NM_015702.3(MMADHC):c.60_61insAT (p.Leu21fs) rs864309742
NM_016038.2(SBDS):c.183_184delTAinsCT (p.Lys62Ter) rs113993991
NM_016038.4(SBDS):c.120del (p.Ser41fs) rs113993990
NM_016038.4(SBDS):c.258+1G>C rs113993992
NM_016038.4(SBDS):c.258+2T>C rs113993993
NM_016038.4(SBDS):c.293_296AAGA[1] (p.Glu99fs) rs113993994
NM_016038.4(SBDS):c.377G>C (p.Arg126Thr) rs113993995
NM_016038.4(SBDS):c.505C>T (p.Arg169Cys) rs113993996
NM_016038.4(SBDS):c.624+1G>C rs113993997
NM_016038.4(SBDS):c.652C>T (p.Arg218Ter) rs113993998
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_018648.3(NOP10):c.100C>T (p.Arg34Trp) rs121908092
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_032487.4(ACTRT3):c.831_*2687del2976
NM_033022.3(RPS24):c.316C>T (p.Gln106Ter) rs104894188
NM_033022.3(RPS24):c.46C>T (p.Arg16Ter) rs104894189
NM_033022.3(RPS24):c.4_6delinsTACGGATAG (p.Asn2delinsTyrGlyTer) rs116840806
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.1127G>A (p.Arg376Gln) rs281875211
NM_080669.6(SLC46A1):c.1274C>G (p.Pro425Arg) rs80338774
NM_080669.6(SLC46A1):c.194del (p.Gly65fs) rs80338769
NM_080669.6(SLC46A1):c.194dup (p.Cys66fs) rs80338769
NM_080669.6(SLC46A1):c.197_198delinsAA (p.Cys66Ter) rs154623632
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_080669.6(SLC46A1):c.337C>T (p.Arg113Cys) rs80338770
NM_080669.6(SLC46A1):c.439G>C (p.Gly147Arg) rs80338771
NM_080669.6(SLC46A1):c.466G>T (p.Asp156Tyr) rs281875210
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.156C>G (p.Phe52Leu) rs80338694
NM_138477.4(CDAN1):c.2140C>T (p.Arg714Trp) rs80338696
NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp) rs80338697
NM_138477.4(CDAN1):c.3128A>T (p.Asp1043Val) rs80338698
NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu) rs80338699
NM_198253.2(TERT):c.1234C>T (p.His412Tyr) rs34094720
NM_198253.2(TERT):c.2029G>T (p.Gly677Cys) rs199422296
NM_198253.2(TERT):c.2045G>A (p.Gly682Asp) rs199422295
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.2147C>T (p.Ala716Val) rs199422298
NM_198253.2(TERT):c.2162C>G (p.Pro721Arg) rs199422299
NM_198253.2(TERT):c.2177C>T (p.Thr726Met) rs149566858
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.2537A>G (p.Tyr846Cys) rs199422302
NM_198253.2(TERT):c.2628C>G (p.His876Gln) rs199422303
NM_198253.2(TERT):c.2701C>T (p.Arg901Trp) rs199422304
NM_198253.2(TERT):c.2706G>C (p.Lys902Asn) rs121918665
NM_198253.2(TERT):c.2935C>T (p.Arg979Trp) rs199422305
NM_198253.2(TERT):c.3043T>C (p.Cys1015Arg) rs199422307
NM_198253.2(TERT):c.3184G>A (p.Ala1062Thr) rs35719940
NM_198253.2(TERT):c.3268G>A (p.Val1090Met) rs121918664
NM_198253.2(TERT):c.604G>A (p.Ala202Thr) rs121918661
NM_198253.2(TERT):c.835G>A (p.Ala279Thr) rs61748181
NR_001566.1(TERC):n.-100C>G rs199422256
NR_001566.1(TERC):n.-240_-239del rs199422255
NR_001566.1(TERC):n.100T>A rs199422269
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.117A>C rs199422273
NR_001566.1(TERC):n.143G>A rs199422274
NR_001566.1(TERC):n.178G>A rs199422275
NR_001566.1(TERC):n.180C>T rs199422276
NR_001566.1(TERC):n.204C>G rs199422277
NR_001566.1(TERC):n.216_229del rs199422278
NR_001566.1(TERC):n.228G>A rs141686314
NR_001566.1(TERC):n.28_34del rs199422259
NR_001566.1(TERC):n.2G>C rs199422257
NR_001566.1(TERC):n.305G>A rs199422279
NR_001566.1(TERC):n.322G>A rs199422280
NR_001566.1(TERC):n.323C>T rs199422281
NR_001566.1(TERC):n.35C>T rs199422260
NR_001566.1(TERC):n.374_1194del821 rs1553915517
NR_001566.1(TERC):n.37A>G rs199422261
NR_001566.1(TERC):n.391_392del rs199422283
NR_001566.1(TERC):n.408C>G rs199422284
NR_001566.1(TERC):n.410C>G rs199422286
NR_001566.1(TERC):n.450G>A rs199422287
NR_001566.1(TERC):n.48A>G rs199422262
NR_001566.1(TERC):n.53_87del rs199422264
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.79del rs199422266
NR_001566.1(TERC):n.96_97del rs199422267
RTEL1:c.2402G>A (p.Arg801His) rs201540674
Single allele
TERT:c.1710G>Y (p.Lys570Asn) rs1554041299
c.17delA

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