ClinVar Miner

List of variants reported as benign for anemia (disease) by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (262):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 320
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HGVS dbSNP
NM_000059.3(BRCA2):c.*105A>C rs15869
NM_000059.3(BRCA2):c.*369A>G rs7334543
NM_000059.3(BRCA2):c.*532A>G rs11571836
NM_000059.3(BRCA2):c.*839delT rs75353978
NM_000059.3(BRCA2):c.-26G>A rs1799943
NM_000059.3(BRCA2):c.-52A>G rs206118
NM_000059.3(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.3(BRCA2):c.1114A>C (p.Asn372His) rs144848
NM_000059.3(BRCA2):c.1365A>G (p.Ser455=) rs1801439
NM_000059.3(BRCA2):c.2229T>C (p.His743=) rs1801499
NM_000059.3(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944
NM_000059.3(BRCA2):c.3396A>G (p.Lys1132=) rs1801406
NM_000059.3(BRCA2):c.3807T>C (p.Val1269=) rs543304
NM_000059.3(BRCA2):c.4563A>G (p.Leu1521=) rs206075
NM_000059.3(BRCA2):c.6513G>C (p.Val2171=) rs206076
NM_000059.3(BRCA2):c.7242A>G (p.Ser2414=) rs1799955
NM_000059.3(BRCA2):c.7806-14T>C rs9534262
NM_000059.3(BRCA2):c.865A>C (p.Asn289His) rs766173
NM_000063.6(C2):c.1902+6G>C rs9332730
NM_000064.3(C3):c.2048-14_2048-13del rs140718871
NM_000064.4(C3):c.1554C>A (p.Pro518=) rs2230203
NM_000064.4(C3):c.1692G>A (p.Val564=) rs2230204
NM_000064.4(C3):c.1836G>A (p.Thr612=) rs2230205
NM_000064.4(C3):c.2246-8C>T rs406514
NM_000064.4(C3):c.2421G>C (p.Val807=) rs428453
NM_000064.4(C3):c.2430G>A (p.Ser810=) rs2230207
NM_000064.4(C3):c.2715C>T (p.Thr905=) rs2230208
NM_000064.4(C3):c.2745T>C (p.Ala915=) rs423490
NM_000064.4(C3):c.2863+7C>T rs2287845
NM_000064.4(C3):c.3753C>A (p.Pro1251=) rs2230209
NM_000064.4(C3):c.4311C>T (p.Ala1437=) rs7951
NM_000064.4(C3):c.4457-4G>A rs2277984
NM_000064.4(C3):c.4631-8C>T rs11569565
NM_000064.4(C3):c.4896C>T (p.Pro1632=) rs17030
NM_000064.4(C3):c.912G>A (p.Arg304=) rs2230201
NM_000064.4(C3):c.941C>T (p.Pro314Leu) rs1047286
NM_000096.4(CP):c.*769G>A rs1053669
NM_000096.4(CP):c.*828dup rs35907111
NM_000096.4(CP):c.2286-15del rs143522213
NM_000096.4(CP):c.2554+14C>G rs200965170
NM_000096.4(CP):c.2662-12T>C rs16861582
NM_000135.4(FANCA):c.*154G>A rs1230
NM_000135.4(FANCA):c.*673A>G rs62704561
NM_000135.4(FANCA):c.*673del rs17233826
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359
NM_000135.4(FANCA):c.1826+15T>C rs1800337
NM_000135.4(FANCA):c.2151+8T>C rs1800340
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066
NM_000135.4(FANCA):c.710-12A>G rs1800286
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala) rs7190823
NM_000136.3(FANCC):c.*1288T>C rs4647554
NM_000136.3(FANCC):c.*1871G>A rs4647558
NM_000186.3(CFH):c.*178T>A rs488738
NM_000186.3(CFH):c.-195T>C rs35836460
NM_000186.3(CFH):c.1160-15T>C rs34815383
NM_000186.3(CFH):c.1204C>T (p.His402Tyr) rs1061170
NM_000186.3(CFH):c.1419G>A (p.Ala473=) rs2274700
NM_000186.3(CFH):c.184G>A (p.Val62Ile) rs800292
NM_000186.3(CFH):c.2016A>G (p.Gln672=) rs3753396
NM_000186.3(CFH):c.2669G>T (p.Ser890Ile) rs515299
NM_000186.3(CFH):c.2808G>T (p.Glu936Asp) rs1065489
NM_000186.3(CFH):c.3019G>T (p.Val1007Leu) rs534399
NM_000186.3(CFH):c.3138C>T (p.Thr1046=) rs61822181
NM_000186.3(CFH):c.3427C>G (p.Gln1143Glu) rs15809
NM_000186.3(CFH):c.921A>C (p.Ala307=) rs1061147
NM_000204.4(CFI):c.*112C>T rs551
NM_000204.4(CFI):c.*214A>G rs28361433
NM_000204.4(CFI):c.1217G>A (p.Arg406His) rs74817407
NM_000204.4(CFI):c.482+6C>T rs79375065
NM_000204.4(CFI):c.804G>A (p.Ser268=) rs2298749
NM_000204.4(CFI):c.884-7T>C rs140555685
NM_000253.3(MTTP):c.*1046C>G rs1061271
NM_000253.3(MTTP):c.-241G>A rs11944752
NM_000253.3(MTTP):c.-252G>C rs11944749
NM_000253.3(MTTP):c.383T>C (p.Ile128Thr) rs3816873
NM_000253.3(MTTP):c.453T>C (p.Gly151=) rs991811
NM_000253.3(MTTP):c.522T>C (p.Cys174=) rs982424
NM_000253.3(MTTP):c.891C>G (p.His297Gln) rs2306985
NM_000289.6(PFKM):c.-112T>G rs12306290
NM_000289.6(PFKM):c.2093-14A>G rs11168427
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500
NM_000289.6(PFKM):c.516C>T (p.Thr172=) rs1049392
NM_000298.6(PKLR):c.*1040G>A rs8847
NM_000298.6(PKLR):c.*13T>C rs1052177
NM_000298.6(PKLR):c.*267C>T rs932972
NM_000298.6(PKLR):c.1705C>A (p.Arg569=) rs1052176
NM_000355.3(TCN2):c.-181A>G rs2240433
NM_000355.4(TCN2):c.*225A>T rs2072195
NM_000355.4(TCN2):c.*444C>T rs10418
NM_000355.4(TCN2):c.581-8A>C rs7290898
NM_000355.4(TCN2):c.776G>C (p.Arg259Pro) rs1801198
NM_000361.2(THBD):c.*1001A>C rs3176123
NM_000361.2(THBD):c.*1918G>A rs1962
NM_000361.2(THBD):c.*277G>A rs3176134
NM_000361.2(THBD):c.*793A>G rs1042580
NM_000361.2(THBD):c.*87T>G rs3176133
NM_000361.2(THBD):c.-58G>C rs13306849
NM_000361.2(THBD):c.1092G>A (p.Glu364=) rs73901577
NM_000361.2(THBD):c.1418C>T (p.Ala473Val) rs1042579
NM_000361.2(THBD):c.1456G>T (p.Asp486Tyr) rs41348347
NM_000373.3(UMPS):c.-110A>G rs2279198
NM_000373.3(UMPS):c.-28A>G rs1139538
NM_000373.3(UMPS):c.-67T>C rs2279199
NM_000373.4(UMPS):c.*1051G>T rs2242248
NM_000373.4(UMPS):c.*1211C>A rs11706118
NM_000373.4(UMPS):c.*1299del rs11330991
NM_000373.4(UMPS):c.*1711T>G rs10934684
NM_000373.4(UMPS):c.*2614G>A rs4677940
NM_000373.4(UMPS):c.*2930_*2933TTTG[4] rs10631393
NM_000373.4(UMPS):c.*2995A>G rs1979411
NM_000373.4(UMPS):c.*3026G>A rs1979412
NM_000373.4(UMPS):c.*3152G>A rs1979413
NM_000373.4(UMPS):c.*3183dup rs11443775
NM_000373.4(UMPS):c.*3589C>T rs10934685
NM_000373.4(UMPS):c.*3990A>T rs77082052
NM_000373.4(UMPS):c.*4138T>G rs593292
NM_000373.4(UMPS):c.*4278G>A rs11927687
NM_000373.4(UMPS):c.*4316C>A rs689449
NM_000373.4(UMPS):c.*725A>T rs2242247
NM_000373.4(UMPS):c.*726C>T rs649652
NM_000373.4(UMPS):c.1320C>T (p.Gly440=) rs13146
NM_000373.4(UMPS):c.638G>C (p.Gly213Ala) rs1801019
NM_000375.3(UROS):c.-185G>A rs4256900
NM_000375.3(UROS):c.-219C>A rs4385801
NM_000518.5(HBB):c.9T>C (p.His3=) rs713040
NM_000617.3(SLC11A2):c.-110G>T rs6580779
NM_000617.3(SLC11A2):c.1254T>C (p.Ile418=) rs1048230
NM_000617.3(SLC11A2):c.1576-14A>G rs161044
NM_000617.3(SLC11A2):c.34+11G>A rs427020
NM_000617.3(SLC11A2):c.607+12G>A rs224454
NM_000969.5(RPL5):c.794+121G>A rs10874744
NM_000975.5(RPL11):c.-37C>G rs10917413
NM_001011.4(RPS7):c.-47G>T rs11558965
NM_001011.4(RPS7):c.508-12C>A rs2071639
NM_001014.4(RPS10):c.-58C>T rs78454682
NM_001014.5(RPS10):c.-1+218A>C rs4713778
NM_001014.5(RPS10):c.-37C>T rs9469779
NM_001018115.2(FANCD2):c.4281+172G>A rs7626117
NM_001018115.2(FANCD2):c.4281+197A>G rs7647987
NM_001018115.2(FANCD2):c.4281+566T>G rs3826
NM_001018115.2(FANCD2):c.4281+673G>A rs9862958
NM_001018115.2(FANCD2):c.4281+685C>T rs11716842
NM_001022.3(RPS19):c.-146_-145insGCCA rs34020014
NM_001022.3(RPS19):c.356+14A= rs1366610
NM_001029.5(RPS26):c.-22C>G rs1131017
NM_001029.5(RPS26):c.-31C>G rs17118262
NM_001029.5(RPS26):c.327T>A (p.Arg109=) rs56696262
NM_001063.4(TF):c.-2A>G rs1130459
NM_001063.4(TF):c.1572G>C (p.Leu524=) rs8649
NM_001063.4(TF):c.1765C>T (p.Pro589Ser) rs1049296
NM_001063.4(TF):c.624G>A (p.Ser208=) rs12769
NM_001063.4(TF):c.739C>T (p.Leu247=) rs1799852
NM_001081.3(CUBN):c.*134G>A rs780636
NM_001081.3(CUBN):c.*601A>G rs780635
NM_001081.3(CUBN):c.10295C>G (p.Thr3432Ser) rs7898873
NM_001081.3(CUBN):c.1165C>A (p.Pro389Thr) rs1801224
NM_001081.3(CUBN):c.2188C>T (p.His730Tyr) rs7905349
NM_001081.3(CUBN):c.2487G>A (p.Ser829=) rs1801225
NM_001081.3(CUBN):c.2791+9C>T rs10795440
NM_001081.3(CUBN):c.3522C>T (p.Gly1174=) rs1873469
NM_001081.3(CUBN):c.4563T>A (p.Ile1521=) rs1801229
NM_001081.3(CUBN):c.4675C>T (p.Pro1559Ser) rs1801231
NM_001081.3(CUBN):c.5134C>T (p.Leu1712=) rs2271468
NM_001081.3(CUBN):c.5343-8C>A rs2271463
NM_001081.3(CUBN):c.5518G>A (p.Gly1840Ser) rs2271462
NM_001081.3(CUBN):c.5856A>G (p.Ser1952=) rs1801234
NM_001081.3(CUBN):c.5911C>A (p.Pro1971Thr) rs2356590
NM_001081.3(CUBN):c.6124+8C>T rs2271461
NM_001081.3(CUBN):c.6485G>A (p.Cys2162Tyr) rs1276712
NM_001081.3(CUBN):c.758T>C (p.Phe253Ser) rs1801222
NM_001081.3(CUBN):c.8150C>G (p.Ser2717Trp) rs2796835
NM_001081.3(CUBN):c.9030T>C (p.Ala3010=) rs1801241
NM_001081.3(CUBN):c.939C>T (p.Asn313=) rs1801223
NM_001081.3(CUBN):c.9843A>G (p.Thr3281=) rs703064
NM_001099274.3(TINF2):c.-260G>C rs28372734
NM_001099274.3(TINF2):c.1140G>A (p.Pro380=) rs10141326
NM_001099274.3(TINF2):c.710G>A (p.Gly237Asp) rs17102313
NM_001113378.1(FANCI):c.1698+15C>T rs9806604
NM_001113378.1(FANCI):c.2225G>C (p.Cys742Ser) rs2283432
NM_001113378.1(FANCI):c.257C>T (p.Ala86Val) rs17803620
NM_001113378.1(FANCI):c.3006+15A>C rs2159081
NM_001113378.1(FANCI):c.3906T>C (p.Gly1302=) rs1138465
NM_001159287.1(TPI1):c.*341C>T rs1804544
NM_001159287.1(TPI1):c.*420T>C rs58194764
NM_001159287.1(TPI1):c.69A>G (p.Arg23=) rs1800200
NM_001174126.1(SLC11A2):c.1629+1088G>A rs150909
NM_001174126.1(SLC11A2):c.1629+1330G>A rs11169654
NM_001174126.1(SLC11A2):c.1629+1933T>C rs149411
NM_001174126.1(SLC11A2):c.1629+415A>G rs2285230
NM_001174126.1(SLC11A2):c.1629+447G>A rs224446
NM_001289000.2(TMPRSS6):c.-1-241G>A rs5756516
NM_001710.5(CFB):c.1365C>T (p.Val455=) rs2072634
NM_001710.5(CFB):c.450A>G (p.Arg150=) rs1048709
NM_001710.5(CFB):c.94C>T (p.Arg32Trp) rs12614
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) rs641153
NM_001849.3(COL6A2):c.*158C>T rs11554666
NM_001849.3(COL6A2):c.2724A>G (p.Thr908=) rs9977394
NM_002389.4(CD46):c.*897T>C rs7144
NM_002693.2(POLG):c.*49dup rs3087377
NM_002693.2(POLG):c.3105-11T>C rs2302084
NM_002693.2(POLG):c.3643+257T>G rs1061316
NM_002693.2(POLG):c.3643+258A>G rs1860021
NM_004629.1(FANCG):c.-392A>G rs10972302
NM_004629.1(FANCG):c.-453_-452insT rs16935545
NM_004629.1(FANCG):c.-490G>T rs10972303
NM_004629.1(FANCG):c.1636+7A>G rs587118
NM_005142.3(CBLIF):c.68A>G (p.Gln23Arg) rs35211634
NM_005373.2(MPL):c.690A>G (p.Glu230=) rs16830693
NM_006363.6(SEC23B):c.*318dup rs397793825
NM_006363.6(SEC23B):c.-232C>G rs4813333
NM_006363.6(SEC23B):c.1233+25dup rs57738665
NM_006363.6(SEC23B):c.1233+9A>G rs6081189
NM_006363.6(SEC23B):c.1405-7C>T rs2273525
NM_006563.4(KLF1):c.*277C>T rs16978757
NM_006563.4(KLF1):c.*296G>A rs16978754
NM_006563.4(KLF1):c.304T>C (p.Ser102Pro) rs2072597
NM_006563.4(KLF1):c.325C>T (p.Pro109Ser) rs117351327
NM_006563.4(KLF1):c.544T>C (p.Phe182Leu) rs2072596
NM_006947.4(SRP72):c.*1313C>G rs113719942
NM_006947.4(SRP72):c.*139G>A rs28438730
NM_006947.4(SRP72):c.*1603A>G rs1142851
NM_006947.4(SRP72):c.*173T>C rs10051
NM_006947.4(SRP72):c.*386G>A rs4260596
NM_006947.4(SRP72):c.*442A>G rs7762
NM_006947.4(SRP72):c.*622_*649del rs59791697
NM_006947.4(SRP72):c.*732A>G rs14211
NM_006947.4(SRP72):c.*780C>T rs10518
NM_006947.4(SRP72):c.1410A>G (p.Leu470=) rs17086879
NM_006947.4(SRP72):c.1671A>G (p.Lys557=) rs34419325
NM_006947.4(SRP72):c.19G>T (p.Gly7Trp) rs17524437
NM_006947.4(SRP72):c.21G>T (p.Gly7=) rs12513091
NM_006947.4(SRP72):c.686A>G (p.His229Arg) rs138986942
NM_006996.3(SLC19A2):c.*60G>A rs2678166
NM_006996.3(SLC19A2):c.*967A>G rs16862199
NM_006996.3(SLC19A2):c.-4C>T rs2072757
NM_012062.5(DNM1L):c.*1093T>C rs1971910
NM_014646.2(LPIN2):c.*2934C>T rs7980
NM_014646.2(LPIN2):c.*3068A>T rs1985
NM_014646.2(LPIN2):c.*3139A>G rs1164
NM_014646.2(LPIN2):c.*3C>T rs3745012
NM_014646.2(LPIN2):c.*657A>C rs16944040
NM_014646.2(LPIN2):c.*685T>A rs607549
NM_014646.2(LPIN2):c.*947dupA rs3840906
NM_017875.4(SLC25A38):c.*310A>T rs12991
NM_017875.4(SLC25A38):c.*642del rs34288981
NM_017875.4(SLC25A38):c.165G>A (p.Leu55=) rs2270770
NM_018062.3(FANCL):c.981T>C (p.Ser327=) rs848291
NM_020937.3(FANCM):c.4516-5_4516-2delCTTA rs796584585
NM_020937.4(FANCM):c.2632G>T (p.Val878Leu) rs1367580
NM_020937.4(FANCM):c.524C>T (p.Ser175Phe) rs10138997
NM_021922.2(FANCE):c.*216delC rs45584740
NM_021922.2(FANCE):c.1504G>A (p.Ala502Thr) rs9462088
NM_021922.2(FANCE):c.387A>C (p.Pro129=) rs4713867
NM_022725.3(FANCF):c.*207C>T rs4447177
NM_022725.3(FANCF):c.*632G>A rs444923
NM_022725.3(FANCF):c.*819C>T rs450946
NM_022725.3(FANCF):c.-10C>T rs3740615
NM_024675.3(PALB2):c.-47G>A rs8053188
NM_024675.3(PALB2):c.1676A>G (p.Gln559Arg) rs152451
NM_024675.3(PALB2):c.629C>T (p.Pro210Leu) rs57605939
NM_025215.6(PUS1):c.-182C>T rs61942438
NM_032383.5(HPS3):c.2887+19dup rs397710976
NM_032444.4(SLX4):c.3365C>T (p.Pro1122Leu) rs714181
NM_032444.4(SLX4):c.4500T>C (p.Asn1500=) rs3810812
NM_032444.4(SLX4):c.678C>T (p.His226=) rs28516461
NM_032444.4(SLX4):c.753G>A (p.Ala251=) rs8061528
NM_033022.3(RPS24):c.-109A>G rs3740254
NM_033022.3(RPS24):c.391-3C>A rs7899453
NM_033084.4(FANCD2):c.378-6_378-5del rs55973240
NM_033084.5(FANCD2):c.1122A>G (p.Val374=) rs34046352
NM_033084.5(FANCD2):c.1137G>T (p.Val379=) rs72492997
NM_033084.5(FANCD2):c.1170C>T (p.Ser390=) rs112887807
NM_033084.5(FANCD2):c.1179T>C (p.Thr393=) rs72492998
NM_033084.5(FANCD2):c.1214A>G (p.Asn405Ser) rs73126218
NM_033084.5(FANCD2):c.1401G>A (p.Thr467=) rs12330369
NM_033084.5(FANCD2):c.1413+14T>C rs12330599
NM_033084.5(FANCD2):c.1413+3A>G rs62245508
NM_033084.5(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017
NM_033084.5(FANCD2):c.3849+13A>G rs9811771
NM_033084.5(FANCD2):c.4098T>G (p.Leu1366=) rs2272125
NM_080669.6(SLC46A1):c.*1407C>T rs2239908
NM_080669.6(SLC46A1):c.*3009= rs2239910
NM_080669.6(SLC46A1):c.*3062C>A rs2239911
NM_080669.6(SLC46A1):c.*3947G>A rs8081240
NM_080669.6(SLC46A1):c.*4030C>T rs8079943
NM_080669.6(SLC46A1):c.*4635dup rs34879232
NM_080669.6(SLC46A1):c.*4780C>T rs1128161
NM_080669.6(SLC46A1):c.*4884G>T rs1128162
NM_080669.6(SLC46A1):c.*928A>G rs2239907
NM_138477.4(CDAN1):c.*142A>G rs3742987
NM_138477.4(CDAN1):c.*214T>C rs3742988
NM_138477.4(CDAN1):c.1787A>G (p.Gln596Arg) rs12917189
NM_138477.4(CDAN1):c.2352+8C>T rs12594483
NM_138477.4(CDAN1):c.2408-3C>T rs12905385
NM_138477.4(CDAN1):c.2671C>T (p.Arg891Cys) rs8023524
NM_138477.4(CDAN1):c.3153G>A (p.Glu1051=) rs28661826
NM_138477.4(CDAN1):c.320A>T (p.Gln107Leu) rs4265781
NM_138477.4(CDAN1):c.3474A>C (p.Leu1158=) rs16957091
NM_138477.4(CDAN1):c.443C>T (p.Ala148Val) rs73410959
NM_138477.4(CDAN1):c.477C>T (p.Pro159=) rs7167392
NM_153609.3(TMPRSS6):c.-113T>C rs5756515
NM_153609.3(TMPRSS6):c.1083G>A (p.Ser361=) rs2111833
NM_153609.3(TMPRSS6):c.1563C>T (p.Asp521=) rs4820268
NM_153609.3(TMPRSS6):c.1869-31CCCCA[5] rs60484081
NM_153609.3(TMPRSS6):c.2207T>C (p.Val736Ala) rs855791
NM_153609.3(TMPRSS6):c.2217C>T (p.Tyr739=) rs2235321
NM_153609.3(TMPRSS6):c.757A>G (p.Lys253Glu) rs2235324
NM_198253.2(TERT):c.*99C>T rs2853690
NM_198253.2(TERT):c.2031C>T (p.Gly677=) rs33956095
NM_198253.2(TERT):c.2097C>T (p.Ala699=) rs33963617
NM_198253.2(TERT):c.3039C>T (p.His1013=) rs33954691
NM_198253.2(TERT):c.3324G>A (p.Pro1108=) rs35033501
NM_198253.2(TERT):c.835G>A (p.Ala279Thr) rs61748181
NM_198253.2(TERT):c.915G>A (p.Ala305=) rs2736098
NM_206965.2(FTCD):c.-33C>T rs2277821
NM_206965.2(FTCD):c.1392C>G (p.Ala464=) rs1047179
NM_206965.2(FTCD):c.1470C>T (p.Gly490=) rs10432965
NM_206965.2(FTCD):c.417G>A (p.Pro139=) rs61729391
NM_206965.2(FTCD):c.54+12G>A rs2277820

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