ClinVar Miner

List of variants studied for Fanconi anemia complementation group A by Baylor Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 265
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.3514-4A>G rs149388130 0.00219
NM_000135.4(FANCA):c.4303G>A (p.Ala1435Thr) rs74977201 0.00176
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu) rs147017625 0.00083
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp) rs139002130 0.00055
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872 0.00047
NM_000135.4(FANCA):c.437C>G (p.Ser146Cys) rs141367100 0.00042
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp) rs143642304 0.00035
NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu) rs56369086 0.00025
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg) rs61757383 0.00019
NM_000135.4(FANCA):c.116G>A (p.Arg39Lys) rs151089298 0.00016
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe) rs149775657 0.00015
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289 0.00013
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952 0.00012
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu) rs139289675 0.00011
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197 0.00009
NM_000135.4(FANCA):c.4177G>A (p.Val1393Met) rs199652831 0.00009
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003 0.00006
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103 0.00006
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu) rs145886270 0.00006
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter) rs148100796 0.00006
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln) rs199967286 0.00005
NM_000135.4(FANCA):c.1827-1G>A rs555449842 0.00005
NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn) rs201589909 0.00005
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398 0.00005
NM_000135.4(FANCA):c.2009G>A (p.Arg670His) rs537923341 0.00004
NM_000135.4(FANCA):c.3349-1G>A rs769862233 0.00004
NM_000135.4(FANCA):c.4015del (p.Leu1339fs) rs762902309 0.00004
NM_000135.4(FANCA):c.445T>G (p.Leu149Val) rs372814783 0.00004
NM_000135.4(FANCA):c.1046C>T (p.Ala349Val) rs142620413 0.00003
NM_000135.4(FANCA):c.1994C>G (p.Thr665Arg) rs1481598103 0.00003
NM_000135.4(FANCA):c.3000C>G (p.His1000Gln) rs750421982 0.00003
NM_000135.4(FANCA):c.3828+1G>C rs1432988639 0.00003
NM_000135.4(FANCA):c.4121G>T (p.Ser1374Ile) rs1254151716 0.00003
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His) rs149851163 0.00003
NM_000135.4(FANCA):c.1777-1G>C rs755104393 0.00002
NM_000135.4(FANCA):c.190-2A>T rs183350210 0.00002
NM_000135.4(FANCA):c.2778+1G>A rs140180549 0.00002
NM_000135.4(FANCA):c.100A>T (p.Lys34Ter) rs772858764 0.00001
NM_000135.4(FANCA):c.1027C>T (p.Gln343Ter) rs755018069 0.00001
NM_000135.4(FANCA):c.1144C>T (p.Gln382Ter) rs769718381 0.00001
NM_000135.4(FANCA):c.1213C>T (p.Gln405Ter) rs1280130060 0.00001
NM_000135.4(FANCA):c.1226-2A>G rs773906241 0.00001
NM_000135.4(FANCA):c.1279A>G (p.Met427Val) rs368103890 0.00001
NM_000135.4(FANCA):c.1654G>A (p.Glu552Lys) rs1012809189 0.00001
NM_000135.4(FANCA):c.1776+1G>A rs756140957 0.00001
NM_000135.4(FANCA):c.189+1G>T rs891323617 0.00001
NM_000135.4(FANCA):c.190-1G>C rs765277254 0.00001
NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter) rs1448463647 0.00001
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro) rs1490352414 0.00001
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro) rs1173704265 0.00001
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950 0.00001
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099 0.00001
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447 0.00001
NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter) rs745568821 0.00001
NM_000135.4(FANCA):c.2853-2A>C rs947311062 0.00001
NM_000135.4(FANCA):c.317G>C (p.Gly106Ala) rs764893807 0.00001
NM_000135.4(FANCA):c.3367G>A (p.Gly1123Arg) rs1437529209 0.00001
NM_000135.4(FANCA):c.3513+1G>A rs1188082371 0.00001
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs) rs1374769712 0.00001
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys) rs745665658 0.00001
NM_000135.4(FANCA):c.3750C>G (p.Asp1250Glu) rs777313447 0.00001
NM_000135.4(FANCA):c.3813dup (p.His1272fs) rs1555534521 0.00001
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe) rs753700179 0.00001
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu) rs182657062 0.00001
NM_000135.4(FANCA):c.4069_4082del (p.Ala1357fs) rs747892390 0.00001
NM_000135.4(FANCA):c.4098G>C (p.Gln1366His) rs1041491550 0.00001
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980 0.00001
NM_000135.4(FANCA):c.580C>T (p.Gln194Ter) rs1384166265 0.00001
NM_000135.4(FANCA):c.597-1G>C rs147945881 0.00001
NM_000135.4(FANCA):c.709+5G>A rs759877008 0.00001
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter) rs372163487 0.00001
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter) rs1291524243 0.00001
NM_000135.4(FANCA):c.894-2A>G rs976556567 0.00001
NM_000135.4(FANCA):c.991del (p.Ser331fs) rs746236214 0.00001
NM_000135.4(FANCA):c.1006+1G>A
NM_000135.4(FANCA):c.1007-2A>G rs2040110878
NM_000135.4(FANCA):c.1037G>A (p.Trp346Ter)
NM_000135.4(FANCA):c.105T>A (p.Tyr35Ter)
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs) rs878853660
NM_000135.4(FANCA):c.1084-1G>T
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1158G>A (p.Trp386Ter) rs752864343
NM_000135.4(FANCA):c.1159C>T (p.Gln387Ter)
NM_000135.4(FANCA):c.1226-2A>C
NM_000135.4(FANCA):c.1231_1234del (p.Val411fs)
NM_000135.4(FANCA):c.1258G>A (p.Glu420Lys)
NM_000135.4(FANCA):c.1273dup (p.Asp425fs)
NM_000135.4(FANCA):c.1287del (p.Ala430fs)
NM_000135.4(FANCA):c.1304G>A (p.Arg435His) rs1060501879
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu) rs1060501879
NM_000135.4(FANCA):c.1307A>G (p.Gln436Arg) rs2040074214
NM_000135.4(FANCA):c.1326del (p.Ser443fs)
NM_000135.4(FANCA):c.1352G>A (p.Trp451Ter)
NM_000135.4(FANCA):c.1359+1G>C rs1555561294
NM_000135.4(FANCA):c.1378C>T (p.Arg460Ter) rs1438828232
NM_000135.4(FANCA):c.1470+2T>C rs2039844134
NM_000135.4(FANCA):c.1471-1G>T rs2039777078
NM_000135.4(FANCA):c.1475A>G (p.His492Arg) rs925457555
NM_000135.4(FANCA):c.155_161del (p.Arg52fs)
NM_000135.4(FANCA):c.1567-20A>G rs775154397
NM_000135.4(FANCA):c.1571C>G (p.Ser524Cys) rs753719658
NM_000135.4(FANCA):c.15G>A (p.Trp5Ter)
NM_000135.4(FANCA):c.1607C>G (p.Ser536Ter) rs769047348
NM_000135.4(FANCA):c.1615del (p.Asp539fs) rs778507965
NM_000135.4(FANCA):c.1630del (p.His544fs)
NM_000135.4(FANCA):c.16dup (p.Val6fs)
NM_000135.4(FANCA):c.1715+1G>T rs1555552506
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter) rs753980264
NM_000135.4(FANCA):c.1811_1812dup (p.Glu605Ter)
NM_000135.4(FANCA):c.1826+2T>C
NM_000135.4(FANCA):c.1827-2A>G rs2143393518
NM_000135.4(FANCA):c.182_183insC (p.Leu61fs) rs2041095238
NM_000135.4(FANCA):c.182_184delinsGG (p.Leu61fs)
NM_000135.4(FANCA):c.187G>T (p.Glu63Ter)
NM_000135.4(FANCA):c.1900+1G>T rs1598120768
NM_000135.4(FANCA):c.1901-3C>A rs17226526
NM_000135.4(FANCA):c.2005C>T (p.Gln669Ter) rs2039386741
NM_000135.4(FANCA):c.2021C>A (p.Ser674Ter) rs17232973
NM_000135.4(FANCA):c.2024C>T (p.Ala675Val) rs986889143
NM_000135.4(FANCA):c.2082_2088dup (p.Val697fs) rs754104046
NM_000135.4(FANCA):c.2151+1dup rs777971510
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del) rs1567618907
NM_000135.4(FANCA):c.2172dup (p.Ser725fs) rs1555547955
NM_000135.4(FANCA):c.2222+1G>T rs775388912
NM_000135.4(FANCA):c.2247del (p.Phe749fs)
NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro) rs137913973
NM_000135.4(FANCA):c.226A>T (p.Lys76Ter)
NM_000135.4(FANCA):c.2290C>T (p.Arg764Trp) rs751572448
NM_000135.4(FANCA):c.2314C>T (p.Gln772Ter) rs761725308
NM_000135.4(FANCA):c.2316+1_2316+3del rs2039275264
NM_000135.4(FANCA):c.2324G>C (p.Ser775Thr) rs2039267533
NM_000135.4(FANCA):c.238del (p.Cys80fs) rs864622187
NM_000135.4(FANCA):c.2426delinsACTGA (p.Gly809delinsAspTer)
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter) rs1247378731
NM_000135.4(FANCA):c.2529C>G (p.Tyr843Ter) rs1247378731
NM_000135.4(FANCA):c.2535_2536del (p.Cys846fs) rs763378933
NM_000135.4(FANCA):c.2546del (p.Ser849fs) rs1060501876
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter) rs1452688134
NM_000135.4(FANCA):c.2594_2595del (p.Ile865fs)
NM_000135.4(FANCA):c.2602-2A>C rs1555545592
NM_000135.4(FANCA):c.2604_2609del
NM_000135.4(FANCA):c.2605C>T (p.Gln869Ter)
NM_000135.4(FANCA):c.2632G>C (p.Glu878Gln) rs1017086086
NM_000135.4(FANCA):c.2632_2633delinsCG (p.Glu878Arg) rs2039079300
NM_000135.4(FANCA):c.2641C>T (p.Gln881Ter) rs2039078843
NM_000135.4(FANCA):c.2647_2648del (p.Leu883fs)
NM_000135.4(FANCA):c.2650del (p.Ser884fs)
NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter) rs1060501880
NM_000135.4(FANCA):c.275C>A (p.Ser92Ter) rs1183559927
NM_000135.4(FANCA):c.2763_2769del (p.Glu922fs) rs1555545421
NM_000135.4(FANCA):c.2778+2T>C rs1458001028
NM_000135.4(FANCA):c.2778+83C>G rs750997715
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer) rs1283284704
NM_000135.4(FANCA):c.283+1G>A rs1232171121
NM_000135.4(FANCA):c.283+2T>C
NM_000135.4(FANCA):c.2839dup (p.Ser947fs) rs756367276
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.4(FANCA):c.2852+1dup
NM_000135.4(FANCA):c.2853-15_2856del rs1285346388
NM_000135.4(FANCA):c.2870G>A (p.Trp957Ter) rs927630499
NM_000135.4(FANCA):c.2981+1G>A rs1555542860
NM_000135.4(FANCA):c.2982-1G>C rs1555540076
NM_000135.4(FANCA):c.2984C>G (p.Ser995Ter)
NM_000135.4(FANCA):c.3043_3051delinsCCTC (p.Glu1015fs)
NM_000135.4(FANCA):c.306del (p.Ser103fs)
NM_000135.4(FANCA):c.308C>G (p.Ser103Ter) rs147176389
NM_000135.4(FANCA):c.3096del (p.Asp1033fs)
NM_000135.4(FANCA):c.3142dup (p.Leu1048fs) rs1405317971
NM_000135.4(FANCA):c.3146_3147del (p.Leu1048_Phe1049insTer) rs2143139166
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3164G>A (p.Arg1055Gln) rs1429943036
NM_000135.4(FANCA):c.3188G>A (p.Trp1063Ter) rs1166286386
NM_000135.4(FANCA):c.3189G>A (p.Trp1063Ter) rs776391208
NM_000135.4(FANCA):c.3208del (p.Gln1070fs)
NM_000135.4(FANCA):c.3239+1dup rs766989857
NM_000135.4(FANCA):c.3239G>A (p.Arg1080Gln) rs1555538571
NM_000135.4(FANCA):c.3286C>T (p.Gln1096Ter) rs775799529
NM_000135.4(FANCA):c.32del (p.Ser11fs)
NM_000135.4(FANCA):c.3319C>T (p.Gln1107Ter)
NM_000135.4(FANCA):c.3393_3395delinsA (p.Ala1132fs)
NM_000135.4(FANCA):c.3400TTC[1] (p.Phe1135del) rs786204246
NM_000135.4(FANCA):c.3409-25_3418del
NM_000135.4(FANCA):c.3409-2A>G
NM_000135.4(FANCA):c.3409-3_3417del
NM_000135.4(FANCA):c.3478C>T (p.Gln1160Ter)
NM_000135.4(FANCA):c.3490C>T (p.Pro1164Ser) rs545772434
NM_000135.4(FANCA):c.3504_3513+55del
NM_000135.4(FANCA):c.3514-1G>C
NM_000135.4(FANCA):c.3517TGG[1] (p.Trp1174del) rs1555536446
NM_000135.4(FANCA):c.3518G>A (p.Trp1173Ter)
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs) rs747851434
NM_000135.4(FANCA):c.3563dup (p.His1188fs)
NM_000135.4(FANCA):c.3586G>T (p.Glu1196Ter) rs1390620949
NM_000135.4(FANCA):c.3626+5G>C rs370801038
NM_000135.4(FANCA):c.3627-1G>A rs2062172440
NM_000135.4(FANCA):c.3627-3_3627-2del rs2062172458
NM_000135.4(FANCA):c.367C>T (p.Gln123Ter)
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs) rs794726660
NM_000135.4(FANCA):c.3761_3762del (p.Glu1254fs) rs868273545
NM_000135.4(FANCA):c.3763_3765delinsC (p.Glu1255fs)
NM_000135.4(FANCA):c.3765+1G>A
NM_000135.4(FANCA):c.3765+2C>T rs776827467
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg) rs139160837
NM_000135.4(FANCA):c.3781_3785del (p.Phe1261fs)
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) rs397507553
NM_000135.4(FANCA):c.3791_3793del (p.Ser1264del) rs1183256870
NM_000135.4(FANCA):c.3792del (p.Ser1264_Leu1265insTer) rs587778319
NM_000135.4(FANCA):c.3828+1G>A rs1432988639
NM_000135.4(FANCA):c.3828+1G>T rs1432988639
NM_000135.4(FANCA):c.3847A>T (p.Lys1283Ter)
NM_000135.4(FANCA):c.3900_3901del (p.Ser1301fs)
NM_000135.4(FANCA):c.3915_3916del (p.Phe1306fs) rs748453841
NM_000135.4(FANCA):c.3918dup (p.Gln1307fs) rs1281446470
NM_000135.4(FANCA):c.3919_3923dup (p.Leu1308fs) rs2151714613
NM_000135.4(FANCA):c.3929_3932del (p.Glu1310fs)
NM_000135.4(FANCA):c.3931_3932del (p.Glu1310_Ser1311insTer) rs1403231932
NM_000135.4(FANCA):c.3934+2T>C rs771775516
NM_000135.4(FANCA):c.3937del (p.Leu1313fs)
NM_000135.4(FANCA):c.3955dup (p.Leu1319fs)
NM_000135.4(FANCA):c.3973del (p.Asp1325fs) rs2151712879
NM_000135.4(FANCA):c.4010+1_4010+18del rs752457319
NM_000135.4(FANCA):c.4017_4021del (p.Ser1340fs) rs773113065
NM_000135.4(FANCA):c.4022A>C (p.Tyr1341Ser) rs768733593
NM_000135.4(FANCA):c.4100_4167+2del
NM_000135.4(FANCA):c.4124_4125del (p.Thr1375fs) rs776969626
NM_000135.4(FANCA):c.4159A>T (p.Lys1387Ter)
NM_000135.4(FANCA):c.4168-2A>G rs1220672299
NM_000135.4(FANCA):c.416_417del (p.Val139fs) rs864622188
NM_000135.4(FANCA):c.4231_4247del (p.Pro1411fs)
NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter) rs940187828
NM_000135.4(FANCA):c.424A>T (p.Arg142Ter) rs2040853392
NM_000135.4(FANCA):c.4254_4255delinsC (p.Ala1419fs)
NM_000135.4(FANCA):c.4258G>T (p.Glu1420Ter) rs984285795
NM_000135.4(FANCA):c.426+1G>A rs1343463467
NM_000135.4(FANCA):c.4260+1G>A rs1060501887
NM_000135.4(FANCA):c.4260+1dup rs1555532944
NM_000135.4(FANCA):c.4261-2A>C rs915983602
NM_000135.4(FANCA):c.4261-2A>G rs915983602
NM_000135.4(FANCA):c.4268_*37del (p.Ala1423_Ter1456delinsXaa) rs2062027006
NM_000135.4(FANCA):c.4275del (p.Asp1427fs) rs1598048941
NM_000135.4(FANCA):c.449_450del (p.Glu150fs)
NM_000135.4(FANCA):c.50del (p.Gly17fs) rs748624754
NM_000135.4(FANCA):c.522+2T>G
NM_000135.4(FANCA):c.539_540dup (p.Ala181fs)
NM_000135.4(FANCA):c.596+2T>C rs1555573118
NM_000135.4(FANCA):c.627G>A (p.Trp209Ter)
NM_000135.4(FANCA):c.709+1G>A rs753211631
NM_000135.4(FANCA):c.709+5G>T rs759877008
NM_000135.4(FANCA):c.710-10G>A rs2040524006
NM_000135.4(FANCA):c.718C>T (p.Gln240Ter) rs1184639006
NM_000135.4(FANCA):c.792+1G>C
NM_000135.4(FANCA):c.793-2A>T
NM_000135.4(FANCA):c.80-2A>G
NM_000135.4(FANCA):c.80-99_105del
NM_000135.4(FANCA):c.827-1G>T rs753728435
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter) rs2041102320
NM_000135.4(FANCA):c.83del (p.Gly28fs)
NM_000135.4(FANCA):c.891_893+1del rs2040352874
NM_000135.4(FANCA):c.898G>A (p.Gly300Arg) rs1467900630
NM_000135.4(FANCA):c.916_917del (p.Thr306fs) rs764122657
NM_000135.4(FANCA):c.94del (p.Arg32fs)
NM_000135.4(FANCA):c.97del (p.Glu33fs) rs786204238
NM_000135.4(FANCA):c.987_990del (p.His330fs) rs772359099
NM_001113525.2(ZNF276):c.*474_*481del rs1567591276
NM_001113525.2(ZNF276):c.*732G>A rs775180524

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.