ClinVar Miner

List of variants reported as uncertain significance for aplastic anemia by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 193
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HGVS dbSNP
NM_000059.3(BRCA2):c.1282C>A (p.Leu428Ile) rs547590567
NM_000059.3(BRCA2):c.1433C>A (p.Thr478Lys) rs431825282
NM_000059.3(BRCA2):c.2122T>A (p.Ser708Thr) rs80358488
NM_000059.3(BRCA2):c.2186T>C (p.Ile729Thr) rs431825296
NM_000059.3(BRCA2):c.2908G>A (p.Asp970Asn) rs397507295
NM_000059.3(BRCA2):c.3808G>A (p.Val1270Ile) rs876658938
NM_000059.3(BRCA2):c.4478A>G (p.Glu1493Gly) rs80358679
NM_000059.3(BRCA2):c.4535G>A (p.Arg1512His) rs80358685
NM_000059.3(BRCA2):c.4825A>G (p.Thr1609Ala) rs876659201
NM_000059.3(BRCA2):c.5747A>G (p.His1916Arg) rs431825334
NM_000059.3(BRCA2):c.5962G>A (p.Val1988Ile) rs28897739
NM_000059.3(BRCA2):c.5986G>T (p.Ala1996Ser) rs80358833
NM_000059.3(BRCA2):c.6148G>A (p.Val2050Ile) rs80358854
NM_000059.3(BRCA2):c.6626T>C (p.Ile2209Thr) rs431825344
NM_000059.3(BRCA2):c.6706G>A (p.Glu2236Lys) rs41293503
NM_000059.3(BRCA2):c.6818G>A (p.Arg2273Lys) rs587782174
NM_000059.3(BRCA2):c.6877T>C (p.Phe2293Leu) rs80358912
NM_000059.3(BRCA2):c.7051G>A (p.Ala2351Thr) rs80358930
NM_000059.3(BRCA2):c.7447A>G (p.Ser2483Gly) rs80358966
NM_000059.3(BRCA2):c.7625C>T (p.Thr2542Met) rs80358989
NM_000059.3(BRCA2):c.7628A>G (p.Tyr2543Cys) rs431825354
NM_000059.3(BRCA2):c.7693G>A (p.Glu2565Lys) rs764761862
NM_000059.3(BRCA2):c.7781A>G (p.Lys2594Arg) rs876660874
NM_000059.3(BRCA2):c.7954G>A (p.Val2652Met) rs1466452770
NM_000059.3(BRCA2):c.8007A>T (p.Arg2669Ser) rs143999963
NM_000059.3(BRCA2):c.8817G>C (p.Lys2939Asn) rs397507414
NM_000059.3(BRCA2):c.9218A>G (p.Asp3073Gly) rs80359186
NM_000059.3(BRCA2):c.9530A>G (p.Glu3177Gly) rs876658365
NM_000059.3(BRCA2):c.9538C>T (p.Leu3180Phe) rs200598289
NM_000059.4(BRCA2):c.2405A>G (p.Asn802Ser) rs876661089
NM_000059.4(BRCA2):c.3835A>G (p.Asn1279Asp) rs80358626
NM_000059.4(BRCA2):c.7992T>G (p.Ile2664Met) rs80359800
NM_000135.4(FANCA):c.1038G>C (p.Trp346Cys) rs750257902
NM_000135.4(FANCA):c.1772G>A (p.Arg591Gln) rs778093769
NM_000135.4(FANCA):c.2395C>T (p.Pro799Ser) rs762439008
NM_000135.4(FANCA):c.2706C>G (p.Asp902Glu) rs587778315
NM_000135.4(FANCA):c.3069G>T (p.Glu1023Asp) rs373986283
NM_000135.4(FANCA):c.317G>C (p.Gly106Ala) rs764893807
NM_000135.4(FANCA):c.3181A>G (p.Ser1061Gly) rs369878171
NM_000135.4(FANCA):c.3230T>A (p.Met1077Lys) rs776603588
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872
NM_000135.4(FANCA):c.3476G>C (p.Cys1159Ser) rs762837582
NM_000135.4(FANCA):c.3703C>G (p.Gln1235Glu) rs769919783
NM_000135.4(FANCA):c.3962G>A (p.Arg1321His) rs374649848
NM_000135.4(FANCA):c.4225C>T (p.Arg1409Trp) rs139478274
NM_000135.4(FANCA):c.754_755delinsAG (p.Asp252Ser) rs587778324
NM_000135.4(FANCA):c.874C>G (p.His292Asp) rs200220791
NM_000136.3(FANCC):c.620A>T (p.His207Leu) rs202038890
NM_000136.3(FANCC):c.668T>C (p.Val223Ala) rs751410815
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser) rs121434406
NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser) rs200303151
NM_001018113.3(FANCB):c.199A>G (p.Ile67Val) rs761346761
NM_001113378.1(FANCI):c.1399G>A (p.Val467Ile) rs199726965
NM_001113378.1(FANCI):c.1412C>G (p.Pro471Arg) rs139072231
NM_001113378.1(FANCI):c.1850C>G (p.Ser617Cys) rs749295501
NM_001113378.1(FANCI):c.2071G>A (p.Glu691Lys) rs144419129
NM_001113378.1(FANCI):c.2203A>G (p.Ile735Val) rs377308647
NM_001113378.1(FANCI):c.2434A>G (p.Ser812Gly) rs768500794
NM_001113378.1(FANCI):c.2614C>G (p.Gln872Glu) rs1368909419
NM_001113378.1(FANCI):c.2960C>T (p.Thr987Met) rs138432305
NM_001113378.1(FANCI):c.2992C>T (p.Pro998Ser) rs182154506
NM_001113378.1(FANCI):c.3499T>G (p.Cys1167Gly) rs61744917
NM_001113378.1(FANCI):c.3946G>A (p.Gly1316Arg) rs369058619
NM_001113378.1(FANCI):c.467G>A (p.Cys156Tyr) rs112387610
NM_001113378.1(FANCI):c.919C>T (p.Pro307Ser) rs769485443
NM_001291424.1(SH2B3):c.592G>A (p.Glu198Lys) rs72650673
NM_002485.4(NBN):c.1034G>T (p.Gly345Val) rs587780089
NM_002485.4(NBN):c.11T>G (p.Leu4Arg) rs748090667
NM_002485.4(NBN):c.1999T>C (p.Ser667Pro) rs587780091
NM_002485.4(NBN):c.2149A>T (p.Thr717Ser) rs587780093
NM_002485.4(NBN):c.340G>T (p.Val114Phe) rs771034958
NM_002485.4(NBN):c.361G>C (p.Asp121His) rs777916019
NM_002485.4(NBN):c.431C>T (p.Thr144Ile) rs1554567906
NM_002485.4(NBN):c.456G>A (p.Met152Ile) rs201816949
NM_002485.4(NBN):c.503G>A (p.Gly168Glu) rs1554566728
NM_002485.4(NBN):c.505C>T (p.Arg169Cys) rs182756889
NM_002485.4(NBN):c.595C>T (p.Pro199Ser) rs587780097
NM_002485.4(NBN):c.683T>G (p.Ile228Arg) rs777460725
NM_002485.4(NBN):c.775G>A (p.Glu259Lys) rs201559159
NM_002485.5(NBN):c.119C>T (p.Ser40Leu) rs587781530
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032
NM_002485.5(NBN):c.2215C>G (p.Leu739Val) rs370058152
NM_002485.5(NBN):c.425A>G (p.Asn142Ser) rs769414
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796
NM_002641.3(PIGA):c.1048C>T (p.Pro350Ser) rs372966902
NM_004629.1(FANCG):c.421C>T (p.Arg141Cys) rs201153812
NM_004629.1(FANCG):c.730G>A (p.Val244Met) rs746248064
NM_004629.1(FANCG):c.881G>A (p.Gly294Glu) rs17880082
NM_005236.2(ERCC4):c.1563C>G (p.Ser521Arg) rs41552412
NM_005431.2(XRCC2):c.181C>A (p.Leu61Ile) rs569810249
NM_005431.2(XRCC2):c.596T>C (p.Met199Thr) rs149099078
NM_007294.3(BRCA1):c.4096+3A>G rs80358015
NM_007294.4(BRCA1):c.1381T>C (p.Phe461Leu) rs62625300
NM_007294.4(BRCA1):c.1745C>T (p.Thr582Met) rs786202386
NM_007294.4(BRCA1):c.2050C>T (p.Pro684Ser) rs397508934
NM_007294.4(BRCA1):c.20G>A (p.Arg7His) rs144792613
NM_007294.4(BRCA1):c.2663A>C (p.His888Pro) rs876658843
NM_007294.4(BRCA1):c.3080G>C (p.Ser1027Thr) rs80357386
NM_007294.4(BRCA1):c.3104T>C (p.Val1035Ala) rs1555588389
NM_007294.4(BRCA1):c.3403C>G (p.Gln1135Glu) rs80357136
NM_007294.4(BRCA1):c.3424G>C (p.Ala1142Pro) rs80357101
NM_007294.4(BRCA1):c.3555G>T (p.Glu1185Asp) rs587779368
NM_007294.4(BRCA1):c.3649T>C (p.Ser1217Pro) rs273900712
NM_007294.4(BRCA1):c.4231A>G (p.Met1411Val) rs587781768
NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala) rs397507233
NM_007294.4(BRCA1):c.4654T>C (p.Tyr1552His) rs1265352633
NM_007294.4(BRCA1):c.5056C>T (p.His1686Tyr) rs1555579648
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln) rs397507239
NM_007294.4(BRCA1):c.527C>T (p.Thr176Met) rs587782747
NM_007294.4(BRCA1):c.5470A>G (p.Ile1824Val) rs587782026
NM_007294.4(BRCA1):c.851A>G (p.Gln284Arg) rs80357039
NM_021922.2(FANCE):c.1018G>C (p.Gly340Arg) rs45524646
NM_021922.2(FANCE):c.229C>A (p.Pro77Thr) rs587778335
NM_021922.2(FANCE):c.298T>A (p.Ser100Thr) rs768911543
NM_021922.2(FANCE):c.311C>G (p.Ala104Gly) rs773580818
NM_021922.2(FANCE):c.316C>T (p.Arg106Trp) rs759034838
NM_021922.2(FANCE):c.397C>T (p.Leu133Phe) rs759124595
NM_021922.2(FANCE):c.52C>T (p.Pro18Ser) rs552241929
NM_022725.3(FANCF):c.241G>T (p.Ala81Ser) rs145057187
NM_022725.3(FANCF):c.385C>G (p.Leu129Val) rs61753271
NM_022725.3(FANCF):c.573C>G (p.Ser191Arg) rs146219377
NM_022725.3(FANCF):c.647G>C (p.Arg216Pro) rs192534185
NM_022725.3(FANCF):c.795C>A (p.Ser265Arg) rs758796858
NM_024675.3(PALB2):c.1115G>C (p.Ser372Thr) rs786204243
NM_024675.3(PALB2):c.11C>T (p.Pro4Leu) rs45619737
NM_024675.3(PALB2):c.1316G>T (p.Gly439Val) rs537258442
NM_024675.3(PALB2):c.1340C>A (p.Ala447Glu) rs1555461334
NM_024675.3(PALB2):c.1348A>C (p.Asn450His) rs62625274
NM_024675.3(PALB2):c.1526G>A (p.Gly509Asp) rs786203176
NM_024675.3(PALB2):c.1756G>A (p.Asp586Asn) rs587781954
NM_024675.3(PALB2):c.1759G>A (p.Ala587Thr) rs1060502733
NM_024675.3(PALB2):c.187C>T (p.Leu63Phe) rs730881899
NM_024675.3(PALB2):c.2026A>C (p.Ile676Leu) rs761478794
NM_024675.3(PALB2):c.2473A>G (p.Arg825Gly) rs745747228
NM_024675.3(PALB2):c.2773G>C (p.Val925Leu) rs180177125
NM_024675.3(PALB2):c.3247G>A (p.Glu1083Lys) rs747785029
NM_024675.3(PALB2):c.3251C>T (p.Ser1084Leu) rs62625271
NM_024675.3(PALB2):c.3307G>C (p.Val1103Leu) rs201657283
NM_024675.3(PALB2):c.3428T>C (p.Leu1143Pro) rs62625284
NM_024675.3(PALB2):c.968C>A (p.Ala323Glu) rs730881882
NM_024675.4(PALB2):c.2869A>C (p.Lys957Gln) rs515726103
NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr) rs587780214
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His) rs62625284
NM_032043.2(BRIP1):c.110A>G (p.Asn37Ser) rs876659105
NM_032043.2(BRIP1):c.1619A>T (p.Gln540Leu) rs4988349
NM_032043.2(BRIP1):c.2216T>C (p.Leu739Pro) rs587780234
NM_032043.2(BRIP1):c.2543G>A (p.Arg848His) rs374334794
NM_032043.2(BRIP1):c.2990C>T (p.Thr997Ile) rs749978235
NM_032043.2(BRIP1):c.3149C>A (p.Thr1050Asn) rs373040333
NM_032043.2(BRIP1):c.3274C>T (p.Pro1092Ser) rs768065626
NM_032043.2(BRIP1):c.485G>A (p.Arg162Gln) rs61757643
NM_032043.2(BRIP1):c.550G>T (p.Asp184Tyr) rs201047375
NM_032043.2(BRIP1):c.752G>A (p.Arg251His) rs780834054
NM_032043.2(BRIP1):c.797C>T (p.Thr266Met) rs550031006
NM_032043.2(BRIP1):c.823A>G (p.Ile275Val) rs587781425
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098
NM_032043.3(BRIP1):c.3178G>A (p.Val1060Ile) rs149016505
NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys) rs542698396
NM_032043.3(BRIP1):c.380-5A>G rs587782131
NM_032444.4(SLX4):c.1271C>T (p.Ala424Val) rs551823420
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu) rs149126845
NM_032444.4(SLX4):c.1394C>T (p.Pro465Leu) rs372128800
NM_032444.4(SLX4):c.1415T>C (p.Leu472Ser) rs776189589
NM_032444.4(SLX4):c.2449G>C (p.Glu817Gln) rs143730668
NM_032444.4(SLX4):c.2585G>A (p.Arg862Gln) rs143558209
NM_032444.4(SLX4):c.2609C>T (p.Ala870Val) rs149584080
NM_032444.4(SLX4):c.3095C>T (p.Pro1032Leu) rs200924744
NM_032444.4(SLX4):c.3101G>A (p.Arg1034His) rs150453226
NM_032444.4(SLX4):c.3940C>A (p.Gln1314Lys) rs142040192
NM_032444.4(SLX4):c.4046G>C (p.Gly1349Ala) rs151144102
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp) rs137976282
NM_032444.4(SLX4):c.4267A>G (p.Ile1423Val) rs953994627
NM_032444.4(SLX4):c.4333C>T (p.Arg1445Trp) rs777967898
NM_032444.4(SLX4):c.4384G>T (p.Ala1462Ser) rs138484365
NM_032444.4(SLX4):c.4765C>T (p.Arg1589Cys) rs181782315
NM_032444.4(SLX4):c.485C>T (p.Thr162Met) rs140876043
NM_032444.4(SLX4):c.802G>A (p.Val268Met) rs1060501798
NM_033084.5(FANCD2):c.1348A>G (p.Ile450Val) rs145129959
NM_033084.5(FANCD2):c.1777C>T (p.Pro593Ser) rs147523071
NM_033084.5(FANCD2):c.2803A>C (p.Ile935Leu) rs61751578
NM_033084.5(FANCD2):c.28T>C (p.Ser10Pro) rs150075366
NM_033084.5(FANCD2):c.310A>G (p.Ile104Val) rs774299094
NM_058216.3(RAD51C):c.3G>T (p.Met1Ile) rs769053886
NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr) rs28363307
NM_058216.3(RAD51C):c.705G>T (p.Lys235Asn) rs755849719
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val) rs149331537
NM_198253.2(TERT):c.2287-5G>A rs561426406
NM_198253.3(TERT):c.1393G>C (p.Val465Leu) rs758110675
NM_198253.3(TERT):c.150G>A (p.Leu50=) rs886044153
NM_198253.3(TERT):c.159G>C (p.Gln53His) rs1060503006
NM_198253.3(TERT):c.508G>A (p.Val170Met) rs387907248
NM_198253.3(TERT):c.887A>C (p.His296Pro) rs778187343

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