ClinVar Miner

List of variants reported as benign for inherited aplastic anemia by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 181
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HGVS dbSNP gnomAD frequency
NM_001022.4(RPS19):c.356+14= rs1366610 0.99999
NM_001113378.2(FANCI):c.2547= (p.Lys849=) rs7183618 0.95848
NM_000135.4(FANCA):c.710-12A>G rs1800286 0.71452
NM_018062.4(FANCL):c.981T>C (p.Ser327=) rs848291 0.69782
NM_032444.4(SLX4):c.4500T>C (p.Asn1500=) rs3810812 0.63612
NM_001018113.3(FANCB):c.1327-10T>C rs2905223 0.53797
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala) rs7190823 0.52564
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359 0.51262
NM_000135.4(FANCA):c.1826+15T>C rs1800337 0.51138
NM_014176.4(UBE2T):c.15A>G (p.Ser5=) rs14451 0.47315
NM_001113378.2(FANCI):c.1698+15C>T rs9806604 0.46880
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066 0.46389
NM_001113378.2(FANCI):c.3906T>C (p.Gly1302=) rs1138465 0.41848
NM_000135.4(FANCA):c.1226-20A>G rs1800330 0.41702
NM_000135.4(FANCA):c.2151+8T>C rs1800340 0.40536
NM_001113378.2(FANCI):c.3006+15A>C rs2159081 0.37877
NM_001113378.2(FANCI):c.545+19C>T rs1981623 0.37220
NM_004629.2(FANCG):c.1636+7A>G rs587118 0.35683
NM_020207.7(ERCC6L2):c.2637C>T (p.Asp879=) rs3088294 0.32463
NM_001113378.2(FANCI):c.257C>T (p.Ala86Val) rs17803620 0.31885
NM_001113378.2(FANCI):c.2225G>C (p.Cys742Ser) rs2283432 0.29667
NM_001018115.3(FANCD2):c.3849+13A>G rs9811771 0.25616
NM_001018115.3(FANCD2):c.4098T>G (p.Leu1366=) rs2272125 0.24889
NM_001018115.3(FANCD2):c.784-19C>T rs9879080 0.23357
NM_032444.4(SLX4):c.753G>A (p.Ala251=) rs8061528 0.21914
NM_032444.4(SLX4):c.3365C>T (p.Pro1122Leu) rs714181 0.20566
NM_001018115.3(FANCD2):c.695+16G>C rs17032283 0.20237
NM_001018115.3(FANCD2):c.439-16A>G rs17032278 0.20185
NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017 0.19295
NM_020207.7(ERCC6L2):c.1742T>C (p.Val581Ala) rs2274654 0.17275
NM_021922.3(FANCE):c.1504G>A (p.Ala502Thr) rs9462088 0.14730
NM_021922.3(FANCE):c.1316+19G>A rs6457823 0.14669
NM_001011.4(RPS7):c.508-12C>A rs2071639 0.12923
NM_000135.4(FANCA):c.3654A>G (p.Pro1218=) rs1800358 0.12784
NM_020207.7(ERCC6L2):c.2858A>T (p.Asn953Ile) rs3780574 0.12513
NM_000135.4(FANCA):c.3807G>C (p.Leu1269=) rs11649210 0.11105
NM_020207.7(ERCC6L2):c.4627G>A (p.Ala1543Thr) rs10512243 0.08835
NM_032444.4(SLX4):c.1366+11T>C rs76350200 0.08654
NM_020207.7(ERCC6L2):c.-15C>T rs56108623 0.08431
NM_001029.5(RPS26):c.327T>A (p.Arg109=) rs56696262 0.08189
NM_014176.4(UBE2T):c.385-11T>C rs17490864 0.08092
NM_006947.4(SRP72):c.1671A>G (p.Lys557=) rs34419325 0.08059
NM_032444.4(SLX4):c.2854G>A (p.Ala952Thr) rs59939128 0.07918
NM_032444.4(SLX4):c.2012T>C (p.Leu671Ser) rs77985244 0.07388
NM_001113378.2(FANCI):c.2367G>T (p.Ala789=) rs11857960 0.07285
NM_001113378.2(FANCI):c.2629A>T (p.Ile877Leu) rs35875311 0.07245
NM_032444.4(SLX4):c.610C>T (p.Arg204Cys) rs79842542 0.07023
NM_000135.4(FANCA):c.1143G>T (p.Thr381=) rs1800331 0.06866
NM_033022.4(RPS24):c.391-3C>A rs7899453 0.06807
NM_018062.4(FANCL):c.217-11T>C rs79588315 0.06493
NM_000135.4(FANCA):c.17T>A (p.Val6Asp) rs1800282 0.06490
NM_032444.4(SLX4):c.1371T>G (p.Asn457Lys) rs74319927 0.06397
NM_032444.4(SLX4):c.1152A>G (p.Pro384=) rs112511042 0.06386
NM_032444.4(SLX4):c.1156A>G (p.Met386Val) rs113490934 0.06384
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06272
NC_000010.11:g.78054989C>T rs76653255 0.06196
NM_000135.4(FANCA):c.894-8A>G rs11648881 0.06110
NM_000135.4(FANCA):c.1927C>G (p.Pro643Ala) rs17232910 0.05919
NM_000135.4(FANCA):c.2779-7T>C rs17233253 0.05872
NM_000135.4(FANCA):c.2901C>T (p.Ser967=) rs17226980 0.05869
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala) rs9282681 0.05868
NM_000135.4(FANCA):c.3067-4T>C rs17227064 0.05860
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val) rs11646374 0.05837
NM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu) rs41309679 0.05446
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497 0.05303
NM_000135.4(FANCA):c.542C>T (p.Ala181Val) rs17232246 0.04972
NM_032444.4(SLX4):c.555C>T (p.Asp185=) rs74640850 0.04956
NM_032444.4(SLX4):c.2855C>T (p.Ala952Val) rs78637028 0.04932
NM_032444.4(SLX4):c.3662C>T (p.Ala1221Val) rs3827530 0.04930
NM_032444.4(SLX4):c.678C>T (p.His226=) rs28516461 0.04916
NM_032444.4(SLX4):c.3812C>T (p.Ser1271Phe) rs3810813 0.04718
NM_001113378.2(FANCI):c.164C>T (p.Pro55Leu) rs62020347 0.04602
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys) rs76275444 0.04436
NC_000010.11:g.78054561T>C rs72642283 0.03823
NM_002948.5(RPL15):c.309+13G>C rs35054246 0.03804
NM_021922.3(FANCE):c.611C>T (p.Ser204Leu) rs7761870 0.03770
NM_032444.4(SLX4):c.3162G>A (p.Ser1054=) rs76488917 0.03405
NM_000135.4(FANCA):c.1941G>A (p.Glu647=) rs17232917 0.03300
NM_001113378.2(FANCI):c.1294-8C>T rs16942931 0.03299
NM_001113378.2(FANCI):c.2028C>T (p.Ala676=) rs16942969 0.03295
NM_004629.2(FANCG):c.1133C>T (p.Ser378Leu) rs4986939 0.03269
NM_001018115.3(FANCD2):c.2712C>T (p.Asn904=) rs35594075 0.03203
NM_000135.4(FANCA):c.1360-7C>T rs17232616 0.03003
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) rs2237857 0.02968
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247 0.02918
NM_000135.4(FANCA):c.3348+18A>G rs1800347 0.02828
NM_020207.7(ERCC6L2):c.2236C>G (p.Leu746Val) rs4742801 0.02803
NM_001018115.3(FANCD2):c.2124T>C (p.Phe708=) rs9809716 0.02768
NM_020207.7(ERCC6L2):c.4403T>C (p.Met1468Thr) rs3739756 0.02732
NM_001018115.3(FANCD2):c.64+12G>C rs9833228 0.02661
NC_000003.12:g.23921643C>T rs76953660 0.02595
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile) rs17227354 0.02526
NM_000975.5(RPL11):c.339C>T (p.Ile113=) rs8880 0.02525
NM_000136.3(FANCC):c.408A>G (p.Gln136=) rs1800360 0.02397
NM_021922.3(FANCE):c.1071C>T (p.Leu357=) rs3823434 0.02388
NM_001113378.2(FANCI):c.3816+15A>T rs28493988 0.02368
NM_032444.4(SLX4):c.3783G>A (p.Pro1261=) rs77699867 0.02290
NM_001018115.3(FANCD2):c.2702G>T (p.Gly901Val) rs35495399 0.02285
NM_006947.4(SRP72):c.1410A>G (p.Leu470=) rs17086879 0.02284
NM_032444.4(SLX4):c.4581G>A (p.Pro1527=) rs78635099 0.02283
NM_001014.5(RPS10):c.401-18C>T rs41269040 0.02247
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile) rs1131660 0.02234
NM_001018115.3(FANCD2):c.516A>G (p.Ile172Met) rs35173688 0.02009
NM_022725.4(FANCF):c.825G>A (p.Leu275=) rs36045913 0.01879
NM_032444.4(SLX4):c.2824G>C (p.Glu942Gln) rs114014006 0.01879
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly) rs17225943 0.01851
NM_001113378.2(FANCI):c.3651+19G>A rs73472624 0.01789
NM_020207.7(ERCC6L2):c.471+16A>T rs117850642 0.01443
NM_020207.7(ERCC6L2):c.3593C>A (p.Pro1198His) rs45604033 0.01433
NM_018062.4(FANCL):c.1077T>C (p.Cys359=) rs11539575 0.01385
NM_032444.4(SLX4):c.3868C>A (p.His1290Asn) rs112596894 0.01345
NM_020207.7(ERCC6L2):c.2811A>G (p.Val937=) rs41281212 0.01274
NM_001113378.2(FANCI):c.3846C>T (p.Ser1282=) rs34557339 0.01219
NM_022725.4(FANCF):c.959C>T (p.Pro320Leu) rs45451294 0.01158
NM_006947.4(SRP72):c.768-20C>T rs116799047 0.01152
NM_032444.4(SLX4):c.4338C>T (p.Thr1446=) rs77718962 0.00998
NM_032444.4(SLX4):c.5146T>A (p.Ser1716Thr) rs75182789 0.00995
NM_001018115.3(FANCD2):c.2148C>G (p.Thr716=) rs55856815 0.00952
NC_000010.11:g.78054841A>G rs140177297 0.00947
NM_002948.5(RPL15):c.243C>T (p.Tyr81=) rs35608037 0.00929
NM_001014.5(RPS10):c.1-18A>G rs115481077 0.00891
NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=) rs55980657 0.00869
NM_020207.7(ERCC6L2):c.3193A>G (p.Ile1065Val) rs113902031 0.00861
NM_022725.4(FANCF):c.96C>T (p.Arg32=) rs151253274 0.00838
NM_032444.4(SLX4):c.1898G>A (p.Gly633Asp) rs1056085 0.00810
NM_032444.4(SLX4):c.5281C>T (p.Arg1761Cys) rs143818824 0.00776
NM_001113378.2(FANCI):c.1326G>A (p.Glu442=) rs34405660 0.00772
NM_022725.4(FANCF):c.387C>T (p.Leu129=) rs45556032 0.00759
NM_033022.4(RPS24):c.177A>G (p.Gly59=) rs6496 0.00736
NM_001018113.3(FANCB):c.402A>G (p.Leu134=) rs147260208 0.00701
NM_032444.4(SLX4):c.90C>T (p.Ser30=) rs118089506 0.00612
NM_022725.4(FANCF):c.557C>T (p.Ala186Val) rs113910234 0.00595
NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys) rs11540832 0.00574
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_002948.5(RPL15):c.75C>G (p.Val25=) rs35629664 0.00525
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_001113378.2(FANCI):c.1699-7C>A rs28446881 0.00498
NM_021922.3(FANCE):c.1572G>A (p.Arg524=) rs115195341 0.00429
NM_032444.4(SLX4):c.4068G>A (p.Pro1356=) rs115491049 0.00396
NM_032444.4(SLX4):c.336G>A (p.Pro112=) rs79126454 0.00393
NM_032444.4(SLX4):c.4600G>A (p.Gly1534Ser) rs78770603 0.00380
NM_006947.4(SRP72):c.686A>G (p.His229Arg) rs138986942 0.00369
NM_006947.4(SRP72):c.1640+6dup rs572508224 0.00334
NM_001018115.3(FANCD2):c.1336C>G (p.Leu446Val) rs34557223 0.00316
NM_000135.4(FANCA):c.3891G>A (p.Lys1297=) rs17227361 0.00286
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_001113378.2(FANCI):c.1179T>C (p.Tyr393=) rs3743377 0.00228
NM_022725.4(FANCF):c.786A>G (p.Leu262=) rs11026706 0.00215
NM_000135.4(FANCA):c.1830A>G (p.Ala610=) rs1800338 0.00201
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro) rs4988347 0.00197
NM_000975.5(RPL11):c.7-20G>T rs142110379 0.00180
NM_001113378.2(FANCI):c.2487T>G (p.Leu829=) rs145762491 0.00155
NM_006947.4(SRP72):c.1803G>A (p.Gly601=) rs143643243 0.00131
NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln) rs35625434 0.00124
NM_000135.4(FANCA):c.115A>C (p.Arg39=) rs17232091 0.00116
NM_001022.4(RPS19):c.60C>G (p.Ala20=) rs149249194 0.00108
NM_000135.4(FANCA):c.893+19C>G rs377406711 0.00051
NM_001018115.3(FANCD2):c.3466+10C>T rs200208121 0.00034
NM_000135.4(FANCA):c.2982-15G>A rs55718325 0.00004
NM_018062.4(FANCL):c.374+13T>C rs776463455 0.00003
NC_000010.11:g.78054851C>T
NC_000019.10:g.41860144_41860145insGCCA rs34020014
NM_000135.4(FANCA):c.1290G>A (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.3597G>A (p.Lys1199=) rs1240994313
NM_001018113.3(FANCB):c.1327-3del rs202067682
NM_001018115.3(FANCD2):c.1137G>T (p.Val379=) rs72492997
NM_001018115.3(FANCD2):c.1170C>T (p.Ser390=) rs112887807
NM_001018115.3(FANCD2):c.1179T>C (p.Thr393=) rs72492998
NM_001018115.3(FANCD2):c.1214A>G (p.Asn405Ser) rs73126218
NM_001018115.3(FANCD2):c.378-6_378-5del rs55973240
NM_001022.4(RPS19):c.356+169CT[2] rs369353222
NM_001022.4(RPS19):c.356+18G>C rs61762294
NM_002948.5(RPL15):c.173-18G>A rs36038704
NM_006947.4(SRP72):c.20G>C (p.Gly7Ala) rs139502866
NM_006947.4(SRP72):c.21G>T (p.Gly7=) rs12513091
NM_006947.4(SRP72):c.958-16del rs572275305
NM_020207.7(ERCC6L2):c.3552G>T (p.Pro1184=) rs12683634
NM_021922.3(FANCE):c.387A>C (p.Pro129=) rs4713867
NM_022725.4(FANCF):c.-10C>T rs3740615
NM_032444.4(SLX4):c.1163+10C>T rs80116508
NM_032444.4(SLX4):c.2854_2855delinsAT (p.Ala952Met) rs863224277

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