ClinVar Miner

List of variants studied for Fanconi anemia complementation group A by Counsyl

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 199
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HGVS dbSNP
NM_000135.2(FANCA):c.1115_1118delTTGG (p.Val372Alafs) rs397507552
NM_000135.2(FANCA):c.154C>T (p.Arg52Ter) rs773159223
NM_000135.2(FANCA):c.1771C>T (p.Arg591Ter) rs753980264
NM_000135.2(FANCA):c.1827-1G>A rs555449842
NM_000135.2(FANCA):c.2216C>T (p.Pro739Leu) rs45441106
NM_000135.2(FANCA):c.2529C>A (p.Tyr843Ter) rs1247378731
NM_000135.2(FANCA):c.2567T>C (p.Leu856Ser) rs370085403
NM_000135.2(FANCA):c.2593A>G (p.Ile865Val) rs878853662
NM_000135.2(FANCA):c.2606A>C (p.Gln869Pro) rs780825099
NM_000135.2(FANCA):c.2738A>C (p.His913Pro) rs1302083447
NM_000135.2(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.2(FANCA):c.2903C>T (p.Ser968Leu) rs779162871
NM_000135.2(FANCA):c.2941T>C (p.Cys981Arg) rs191943709
NM_000135.2(FANCA):c.295C>T (p.Gln99Ter) rs1057516430
NM_000135.2(FANCA):c.3066+1G>T rs587783028
NM_000135.2(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003
NM_000135.2(FANCA):c.3357C>T (p.Phe1119=) rs878853664
NM_000135.2(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197
NM_000135.2(FANCA):c.3412C>G (p.Leu1138Val) rs138417003
NM_000135.2(FANCA):c.3761A>T (p.Glu1254Val) rs750773229
NM_000135.2(FANCA):c.3761_3762delAG (p.Glu1254Glyfs) rs868273545
NM_000135.2(FANCA):c.3788_3790delTCT (p.Phe1263del) rs397507553
NM_000135.2(FANCA):c.3971C>T (p.Pro1324Leu) rs182657062
NM_000135.2(FANCA):c.3G>T (p.Met1Ile) rs1555581729
NM_000135.2(FANCA):c.4015delC (p.Leu1339Serfs) rs762902309
NM_000135.2(FANCA):c.41A>G (p.Asp14Gly) rs762648754
NM_000135.2(FANCA):c.4260+1G>A rs1060501887
NM_000135.2(FANCA):c.623C>T (p.Ser208Leu) rs144420697
NM_000135.2(FANCA):c.65G>A (p.Trp22Ter) rs761341952
NM_000135.2(FANCA):c.709+2T>C rs1555571116
NM_000135.2(FANCA):c.709+5G>A rs759877008
NM_000135.2(FANCA):c.752C>T (p.Ser251Leu) rs878853666
NM_000135.2(FANCA):c.811C>T (p.Gln271Ter) rs372163487
NM_000135.2(FANCA):c.862G>T (p.Glu288Ter) rs148100796
NM_000135.2(FANCA):c.987_990delTCAC (p.His330Alafs) rs772359099
NM_000135.3(FANCA):c.1006+1G>T rs1555564436
NM_000135.3(FANCA):c.100A>T (p.Lys34Ter) rs772858764
NM_000135.3(FANCA):c.1034_1035del (p.Glu345Valfs) rs769580546
NM_000135.3(FANCA):c.1038G>C (p.Trp346Cys) rs750257902
NM_000135.3(FANCA):c.11C>A (p.Ser4Ter) rs1484087361
NM_000135.3(FANCA):c.1226-2A>G rs773906241
NM_000135.3(FANCA):c.1267C>T (p.Gln423Ter) rs774026652
NM_000135.3(FANCA):c.1273G>C (p.Asp425His) rs1555561398
NM_000135.3(FANCA):c.1303C>T (p.Arg435Cys) rs148473140
NM_000135.3(FANCA):c.1304G>T (p.Arg435Leu) rs1060501879
NM_000135.3(FANCA):c.1359+1G>C rs1555561294
NM_000135.3(FANCA):c.1360-16_1363dup rs1555556321
NM_000135.3(FANCA):c.1378C>T (p.Arg460Ter) rs1438828232
NM_000135.3(FANCA):c.1470+1G>A rs1555556175
NM_000135.3(FANCA):c.1475A>G (p.His492Arg) rs925457555
NM_000135.3(FANCA):c.1476_1477del (p.Ile493Serfs) rs1555554788
NM_000135.3(FANCA):c.1510C>T (p.Arg504Cys) rs200291237
NM_000135.3(FANCA):c.1549C>T (p.Arg517Trp) rs587778309
NM_000135.3(FANCA):c.1566+2C>T rs1316950815
NM_000135.3(FANCA):c.1625A>T (p.Glu542Val) rs587778310
NM_000135.3(FANCA):c.163C>T (p.Gln55Ter) rs1555580427
NM_000135.3(FANCA):c.1682C>T (p.Thr561Met) rs148154682
NM_000135.3(FANCA):c.168_173del (p.Leu57_Asn58del) rs1060501881
NM_000135.3(FANCA):c.16_36dup (p.Gly12_Gln13insValProAsnSerAlaSerGly) rs1555581601
NM_000135.3(FANCA):c.1715+1G>T rs1555552506
NM_000135.3(FANCA):c.1734_1739del (p.Tyr578_Arg914delinsTer) rs757504102
NM_000135.3(FANCA):c.1776+7A>G rs1555552070
NM_000135.3(FANCA):c.1777-1G>C rs755104393
NM_000135.3(FANCA):c.1796_1800dup (p.Val601Profs) rs1555552006
NM_000135.3(FANCA):c.1844dup (p.Ser616Ilefs) rs779375100
NM_000135.3(FANCA):c.189+1G>A rs891323617
NM_000135.3(FANCA):c.190-1G>T rs765277254
NM_000135.3(FANCA):c.190-2A>T rs183350210
NM_000135.3(FANCA):c.1901-1G>A rs1485075318
NM_000135.3(FANCA):c.1901-2A>G rs1555549535
NM_000135.3(FANCA):c.1944del (p.Glu648Aspfs) rs1555549451
NM_000135.3(FANCA):c.1A>C (p.Met1Leu) rs772751654
NM_000135.3(FANCA):c.1A>G (p.Met1Val) rs772751654
NM_000135.3(FANCA):c.1A>T (p.Met1Leu) rs772751654
NM_000135.3(FANCA):c.2008C>T (p.Arg670Cys) rs587778312
NM_000135.3(FANCA):c.2015-1G>A rs1555548632
NM_000135.3(FANCA):c.2026C>T (p.Gln676Ter) rs1448463647
NM_000135.3(FANCA):c.2051T>C (p.Leu684Pro) rs762526878
NM_000135.3(FANCA):c.2082_2088dup (p.Val697Glnfs) rs754104046
NM_000135.3(FANCA):c.2107C>T (p.Gln703Ter) rs1555548512
NM_000135.3(FANCA):c.2151+2T>C rs937874201
NM_000135.3(FANCA):c.2172dup (p.Ser725Valfs) rs1555547955
NM_000135.3(FANCA):c.2175_2182del (p.Phe726Glufs) rs1555547935
NM_000135.3(FANCA):c.2222+1G>C rs775388912
NM_000135.3(FANCA):c.2303T>C (p.Leu768Pro) rs1490352414
NM_000135.3(FANCA):c.2398G>T (p.Glu800Ter) rs1555547474
NM_000135.3(FANCA):c.2495_2497del (p.Phe832del) rs1310756192
NM_000135.3(FANCA):c.2519C>G (p.Ala840Gly) rs587778313
NM_000135.3(FANCA):c.2524del (p.Ser842Leufs) rs1205909298
NM_000135.3(FANCA):c.2534T>C (p.Leu845Pro) rs1173704265
NM_000135.3(FANCA):c.2535_2536del (p.Cys846Glnfs) rs763378933
NM_000135.3(FANCA):c.2557C>T (p.Arg853Ter) rs752160950
NM_000135.3(FANCA):c.2582C>T (p.Ser861Phe) rs980582362
NM_000135.3(FANCA):c.2602-2A>T rs1555545592
NM_000135.3(FANCA):c.2602T>G (p.Phe868Val) rs1555545588
NM_000135.3(FANCA):c.2630_2631del (p.Ser877Terfs) rs1555545553
NM_000135.3(FANCA):c.2667del (p.Ser890Alafs) rs1555545517
NM_000135.3(FANCA):c.2681G>A (p.Arg894Lys) rs587778316
NM_000135.3(FANCA):c.2763_2769del (p.Glu922Metfs) rs1555545421
NM_000135.3(FANCA):c.2778+2T>C rs1458001028
NM_000135.3(FANCA):c.2778+83C>G rs750997715
NM_000135.3(FANCA):c.2812_2830dup (p.Asp944Glyfs) rs1283284704
NM_000135.3(FANCA):c.283+1G>T rs1232171121
NM_000135.3(FANCA):c.2840C>G (p.Ser947Ter) rs745568821
NM_000135.3(FANCA):c.2852G>A (p.Arg951Gln) rs755922289
NM_000135.3(FANCA):c.2853-15_2856del rs1285346388
NM_000135.3(FANCA):c.2853-2A>C rs947311062
NM_000135.3(FANCA):c.2859C>A (p.Asp953Glu) rs149112292
NM_000135.3(FANCA):c.2870G>A (p.Trp957Ter) rs927630499
NM_000135.3(FANCA):c.2910del (p.Gly972Alafs) rs1278836130
NM_000135.3(FANCA):c.2944A>G (p.Thr982Ala) rs587778317
NM_000135.3(FANCA):c.2959G>C (p.Ala987Pro) rs752735858
NM_000135.3(FANCA):c.2981+1G>A rs1555542860
NM_000135.3(FANCA):c.2982-1G>C rs1555540076
NM_000135.3(FANCA):c.2982C>G (p.Ser994Arg) rs1555540072
NM_000135.3(FANCA):c.2990_2993del (p.Ser997Metfs) rs1555540048
NM_000135.3(FANCA):c.2T>A (p.Met1Lys) rs769479800
NM_000135.3(FANCA):c.2T>C (p.Met1Thr) rs769479800
NM_000135.3(FANCA):c.3069G>T (p.Glu1023Asp) rs373986283
NM_000135.3(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.3(FANCA):c.3164G>T (p.Arg1055Leu) rs1429943036
NM_000135.3(FANCA):c.3239G>A (p.Arg1080Gln) rs1555538571
NM_000135.3(FANCA):c.3316G>A (p.Glu1106Lys) rs777825824
NM_000135.3(FANCA):c.3348+1G>A rs751266148
NM_000135.3(FANCA):c.3349-3C>T rs373861415
NM_000135.3(FANCA):c.3359_3361del (p.Cys1120del) rs1314042335
NM_000135.3(FANCA):c.3382C>G (p.Gln1128Glu) rs1439817346
NM_000135.3(FANCA):c.3382C>T (p.Gln1128Ter) rs1439817346
NM_000135.3(FANCA):c.3402dup (p.Phe1135Leufs) rs1555537347
NM_000135.3(FANCA):c.3422C>A (p.Ala1141Asp) rs587778318
NM_000135.3(FANCA):c.343G>A (p.Gly115Arg) rs769824282
NM_000135.3(FANCA):c.3558dup (p.Arg1187Glufs) rs747851434
NM_000135.3(FANCA):c.3592C>T (p.Gln1198Ter) rs1381684916
NM_000135.3(FANCA):c.3605_3607del (p.Glu1202del) rs1380850249
NM_000135.3(FANCA):c.3610_3613del (p.Arg1204Serfs) rs1555536361
NM_000135.3(FANCA):c.3626+1G>T rs34885858
NM_000135.3(FANCA):c.3696del (p.Phe1232Leufs) rs1555535527
NM_000135.3(FANCA):c.3706_3708del (p.Gln1236del) rs1555535513
NM_000135.3(FANCA):c.3720_3724del (p.Glu1240Aspfs) rs794726660
NM_000135.3(FANCA):c.3725_3727del (p.Ile1242del) rs1441710252
NM_000135.3(FANCA):c.3745del (p.Leu1249Trpfs) rs1555535472
NM_000135.3(FANCA):c.3761_3762dup (p.Glu1255Argfs) rs868273545
NM_000135.3(FANCA):c.3784T>C (p.Phe1262Leu) rs1555534579
NM_000135.3(FANCA):c.3795G>C (p.Leu1265Phe) rs1010989878
NM_000135.3(FANCA):c.3798G>A (p.Met1266Ile) rs1443680543
NM_000135.3(FANCA):c.3813dup (p.His1272Thrfs) rs1555534521
NM_000135.3(FANCA):c.3828+1G>A rs1432988639
NM_000135.3(FANCA):c.3829-9G>A rs776077648
NM_000135.3(FANCA):c.3884T>A (p.Leu1295Ter) rs986710868
NM_000135.3(FANCA):c.3884T>G (p.Leu1295Ter) rs986710868
NM_000135.3(FANCA):c.3890dup (p.Arg1298Glufs) rs1555534060
NM_000135.3(FANCA):c.3934+2T>C rs771775516
NM_000135.3(FANCA):c.3934+74C>G rs56216970
NM_000135.3(FANCA):c.3935-1G>T rs1555533693
NM_000135.3(FANCA):c.3959_3961del (p.Leu1320del) rs927201841
NM_000135.3(FANCA):c.3989_3994del (p.Leu1330_Leu1331del) rs1555533593
NM_000135.3(FANCA):c.4015C>T (p.Leu1339Phe) rs149775657
NM_000135.3(FANCA):c.401dup (p.Val135Cysfs) rs1555575253
NM_000135.3(FANCA):c.4069_4082del (p.Ala1357Leufs) rs747892390
NM_000135.3(FANCA):c.4075G>T (p.Asp1359Tyr) rs1555533313
NM_000135.3(FANCA):c.4080G>A (p.Met1360Ile) rs1555533300
NM_000135.3(FANCA):c.4167+2C>T rs374765708
NM_000135.3(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980
NM_000135.3(FANCA):c.4232C>T (p.Pro1411Leu) rs201494304
NM_000135.3(FANCA):c.4247C>G (p.Ser1416Ter) rs940187828
NM_000135.3(FANCA):c.4257dup (p.Glu1420Argfs) rs1555532946
NM_000135.3(FANCA):c.4260+1dup rs1555532944
NM_000135.3(FANCA):c.4260+2T>A rs1555532943
NM_000135.3(FANCA):c.4261-2A>C rs915983602
NM_000135.3(FANCA):c.4273C>T (p.Arg1425Cys) rs587778321
NM_000135.3(FANCA):c.4316G>C (p.Arg1439Thr) rs587778322
NM_000135.3(FANCA):c.4318C>T (p.Gln1440Ter) rs767234774
NM_000135.3(FANCA):c.4331_4332del (p.Pro1444Argfs) rs1030509993
NM_000135.3(FANCA):c.457C>G (p.Gln153Glu) rs774448881
NM_000135.3(FANCA):c.513dup (p.Lys172Glufs) rs1555574913
NM_000135.3(FANCA):c.522+1G>T rs1365019056
NM_000135.3(FANCA):c.523-1G>T rs1477653630
NM_000135.3(FANCA):c.523-2A>G rs746518509
NM_000135.3(FANCA):c.549G>A (p.Trp183Ter) rs758528624
NM_000135.3(FANCA):c.553C>A (p.Leu185Ile) rs587778323
NM_000135.3(FANCA):c.596+2T>C rs1555573118
NM_000135.3(FANCA):c.597-1G>C rs147945881
NM_000135.3(FANCA):c.710-1G>C rs1388128874
NM_000135.3(FANCA):c.718C>T (p.Gln240Ter) rs1184639006
NM_000135.3(FANCA):c.79+1G>C rs1483028018
NM_000135.3(FANCA):c.793-3C>G rs749688050
NM_000135.3(FANCA):c.80-1G>T rs751076878
NM_000135.3(FANCA):c.827-1G>C rs753728435
NM_000135.3(FANCA):c.839C>T (p.Ala280Val) rs767092317
NM_000135.3(FANCA):c.856C>T (p.Gln286Ter) rs1291524243
NM_000135.3(FANCA):c.863_866dup (p.Ser290Valfs) rs1348367722
NM_000135.3(FANCA):c.894-2A>G rs976556567
NM_000135.3(FANCA):c.916_917delAC (p.Thr306Alafs) rs764122657
NM_000135.3(FANCA):c.964C>T (p.His322Tyr) rs772768595
NM_000135.3(FANCA):c.971T>G (p.Leu324Arg) rs1447363475
NM_000135.3(FANCA):c.989_995del (p.His330Leufs) rs1555564451
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe) rs753700179
NM_000135.4(FANCA):c.4124_4125del (p.Thr1375Serfs) rs776969626

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