ClinVar Miner

List of variants in gene FANCA reported as pathogenic for Fanconi anemia complementation group A

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 187
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HGVS dbSNP
FANCA, IVS7DS, G-A, +5
NC_000016.10:g.(?_89744949)_(89767247_?)del
NC_000016.10:g.(?_89748641)_(89758720_?)del
NC_000016.10:g.(?_89748641)_(89765076_?)del
NC_000016.10:g.(?_89748649)_(89758715_?)del
NC_000016.10:g.(?_89748649)_(89765076_?)del
NC_000016.10:g.(?_89752128)_(89792557_?)del
NC_000016.10:g.(?_89752128)_(89808377_?)del
NC_000016.10:g.(?_89752138)_(89792547_?)del
NC_000016.10:g.(?_89758567)_(89784974_?)del
NC_000016.10:g.(?_89758567)_(89808377_?)del
NC_000016.10:g.(?_89758571)_(89784970_?)del
NC_000016.10:g.(?_89761939)_(89762032_?)del
NC_000016.10:g.(?_89761939)_(89765076_?)del
NC_000016.10:g.(?_89761939)_(89816616_?)del
NC_000016.10:g.(?_89764807)_(89773394_?)del
NC_000016.10:g.(?_89764807)_(89775825_?)del
NC_000016.10:g.(?_89764807)_(89805402_?)del
NC_000016.10:g.(?_89764880)_(89773394_?)del
NC_000016.10:g.(?_89767131)_(89784974_?)del
NC_000016.10:g.(?_89767131)_(89799648_?)del
NC_000016.10:g.(?_89775732)_(89808377_?)del
NC_000016.10:g.(?_89775736)_(89775821_?)del
NC_000016.10:g.(?_89778791)_(89779967_?)del
NC_000016.10:g.(?_89778791)_(89816625_?)del
NC_000016.10:g.(?_89782849)_(89784974_?)del
NC_000016.10:g.(?_89782849)_(89796028_?)del
NC_000016.10:g.(?_89782853)_(89784970_?)del
NC_000016.10:g.(?_89784844)_(89784974_?)del
NC_000016.10:g.(?_89791393)_(89796028_?)del
NC_000016.10:g.(?_89791393)_(89811081_?)del
NC_000016.10:g.(?_89791397)_(89792553_?)del
NC_000016.10:g.(?_89791403)_(89796018_?)del
NC_000016.10:g.(?_89798246)_(89799648_?)del
NC_000016.10:g.(?_89799156)_(89799648_?)del
NC_000016.10:g.(?_89803249)_(89808377_?)del
NC_000016.10:g.(?_89803249)_(89811081_?)del
NC_000016.10:g.(?_89803249)_(89816625_?)del
NC_000016.10:g.(?_89808284)_(89816616_?)del
NC_000016.10:g.(?_89808284)_(89816625_?)del
NC_000016.10:g.(?_89810697)_(89816616_?)del
NC_000016.10:g.(?_89814510)_(89816625_?)del
NC_000016.10:g.(?_89815867)_(89816625_?)del
NC_000016.10:g.89799166_89799169del
NC_000016.9:g.(?_89831292)_(89833651_?)del
NC_000016.9:g.89871693_89878808del
NG_011706.1:g.10587_63081del
NG_011706.1:g.13291_71928del
NM_000135.2(FANCA):c.1007_3066del
NM_000135.2(FANCA):c.894_1006del113 (p.Trp298Cysfs)
NM_000135.2:c.1471_1626del
NM_000135.2:c.1627_1900del
NM_000135.4(FANCA):c.100A>T (p.Lys34Ter) rs772858764
NM_000135.4(FANCA):c.1027C>T (p.Gln343Ter)
NM_000135.4(FANCA):c.1028_1029AG[3] (p.Glu345fs) rs769580546
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs) rs878853660
NM_000135.4(FANCA):c.1084-1G>A
NM_000135.4(FANCA):c.1111_1114TTGG[1] (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1142_1144delinsTTT (p.Thr381_Gln382delinsIleTer)
NM_000135.4(FANCA):c.1158G>A (p.Trp386Ter) rs752864343
NM_000135.4(FANCA):c.1194del (p.Cys399fs)
NM_000135.4(FANCA):c.1202del (p.Pro401fs)
NM_000135.4(FANCA):c.1226-2A>G rs773906241
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys) rs148473140
NM_000135.4(FANCA):c.1304G>A (p.Arg435His) rs1060501879
NM_000135.4(FANCA):c.1318G>T (p.Glu440Ter)
NM_000135.4(FANCA):c.1340C>G (p.Ser447Ter) rs149551759
NM_000135.4(FANCA):c.1359+1G>C rs1555561294
NM_000135.4(FANCA):c.1378C>T (p.Arg460Ter) rs1438828232
NM_000135.4(FANCA):c.1417del (p.Leu473fs)
NM_000135.4(FANCA):c.1433C>G (p.Ser478Ter)
NM_000135.4(FANCA):c.1472_1566+1del rs1567628967
NM_000135.4(FANCA):c.154C>T (p.Arg52Ter) rs773159223
NM_000135.4(FANCA):c.1606del (p.Ser536fs) rs587776570
NM_000135.4(FANCA):c.1615del (p.Asp539fs) rs778507965
NM_000135.4(FANCA):c.1630dup (p.His544fs) rs1598129626
NM_000135.4(FANCA):c.1645C>T (p.Gln549Ter)
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter) rs753980264
NM_000135.4(FANCA):c.1796_1800dup (p.Val601fs) rs1555552006
NM_000135.4(FANCA):c.1809dup (p.Ile604fs) rs1343140664
NM_000135.4(FANCA):c.1812_1813AG[1] (p.Glu605fs) rs759899153
NM_000135.4(FANCA):c.1821_1822insT (p.Lys608Ter)
NM_000135.4(FANCA):c.1824dup (p.Arg609fs) rs1598127082
NM_000135.4(FANCA):c.1827-1G>A rs555449842
NM_000135.4(FANCA):c.182_183insC (p.Leu61fs)
NM_000135.4(FANCA):c.1979T>C (p.Leu660Pro) rs1567621042
NM_000135.4(FANCA):c.1981A>T (p.Arg661Ter) rs1060501878
NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter) rs1448463647
NM_000135.4(FANCA):c.207T>A (p.Cys69Ter)
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter) rs1555548512
NM_000135.4(FANCA):c.2151+1G>A rs1555548428
NM_000135.4(FANCA):c.2172dup (p.Ser725fs) rs1555547955
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs) rs1555547935
NM_000135.4(FANCA):c.217_218TC[2] (p.Leu74fs)
NM_000135.4(FANCA):c.2314C>T (p.Gln772Ter) rs761725308
NM_000135.4(FANCA):c.2317-2A>G rs1567618264
NM_000135.4(FANCA):c.236_239del (p.Asp79fs) rs1336033143
NM_000135.4(FANCA):c.238del (p.Cys80fs) rs864622187
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter) rs1555547474
NM_000135.4(FANCA):c.2524del (p.Ser842fs) rs1205909298
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter) rs1247378731
NM_000135.4(FANCA):c.2529_2530CT[2] (p.Leu845fs) rs763378933
NM_000135.4(FANCA):c.2529_2530CT[3] (p.Cys846fs) rs763378933
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro) rs1173704265
NM_000135.4(FANCA):c.2546del (p.Ser849fs) rs1060501876
NM_000135.4(FANCA):c.2555C>A (p.Ser852Ter)
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141
NM_000135.4(FANCA):c.2587_2588dup (p.Leu864fs) rs1567616135
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter) rs1452688134
NM_000135.4(FANCA):c.2600del (p.Lys867fs)
NM_000135.4(FANCA):c.2601+1G>T rs1188581065
NM_000135.4(FANCA):c.2602-2A>T rs1555545592
NM_000135.4(FANCA):c.2638C>T (p.Arg880Ter)
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398
NM_000135.4(FANCA):c.2641C>T (p.Gln881Ter)
NM_000135.4(FANCA):c.2710C>T (p.Gln904Ter)
NM_000135.4(FANCA):c.2722_2723CT[4] (p.Trp911fs) rs878853663
NM_000135.4(FANCA):c.2735_2736CA[2] (p.His913fs) rs1186669727
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447
NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter) rs1060501880
NM_000135.4(FANCA):c.275C>G (p.Ser92Ter) rs1183559927
NM_000135.4(FANCA):c.2778+1G>A rs140180549
NM_000135.4(FANCA):c.2778+2T>C rs1458001028
NM_000135.4(FANCA):c.2786del (p.Tyr929fs)
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer) rs1283284704
NM_000135.4(FANCA):c.283+1G>T rs1232171121
NM_000135.4(FANCA):c.283+3A>C rs786204204
NM_000135.4(FANCA):c.2839dup (p.Ser947fs) rs756367276
NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter) rs745568821
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289
NM_000135.4(FANCA):c.2870G>A (p.Trp957Ter) rs927630499
NM_000135.4(FANCA):c.294_295delinsTT (p.Leu98_Gln99delinsPheTer) rs1598191053
NM_000135.4(FANCA):c.295C>T (p.Gln99Ter) rs1057516430
NM_000135.4(FANCA):c.3066+1G>T rs587783028
NM_000135.4(FANCA):c.3085G>T (p.Glu1029Ter) rs1555538740
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3188G>A (p.Trp1063Ter) rs1166286386
NM_000135.4(FANCA):c.319del (p.Val107fs)
NM_000135.4(FANCA):c.3239+1dup rs766989857
NM_000135.4(FANCA):c.3241_3626+1del
NM_000135.4(FANCA):c.3264_3267del (p.Val1089fs)
NM_000135.4(FANCA):c.3316G>T (p.Glu1106Ter) rs777825824
NM_000135.4(FANCA):c.3348+1G>A rs751266148
NM_000135.4(FANCA):c.3349-1G>A rs769862233
NM_000135.4(FANCA):c.3349-2A>G
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197
NM_000135.4(FANCA):c.3397del (p.His1133fs)
NM_000135.4(FANCA):c.3400_3402TTC[1] (p.Phe1135del) rs786204246
NM_000135.4(FANCA):c.3517_3519TGG[1] (p.Trp1174del) rs1555536446
NM_000135.4(FANCA):c.3521G>A (p.Trp1174Ter) rs1598067532
NM_000135.4(FANCA):c.3554G>A (p.Trp1185Ter)
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs) rs747851434
NM_000135.4(FANCA):c.3627-1G>C
NM_000135.4(FANCA):c.3629dup (p.Leu1211fs)
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs) rs1374769712
NM_000135.4(FANCA):c.3638_3639del (p.Pro1213fs)
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs) rs794726660
NM_000135.4(FANCA):c.3755_3756AG[3] (p.Glu1254fs) rs868273545
NM_000135.4(FANCA):c.3755_3756AG[5] (p.Glu1255fs) rs868273545
NM_000135.4(FANCA):c.401dup (p.Val135fs) rs1555575253
NM_000135.4(FANCA):c.414_415TG[1] (p.Val139fs) rs864622188
NM_000135.4(FANCA):c.418G>T (p.Glu140Ter)
NM_000135.4(FANCA):c.427A>T (p.Lys143Ter) rs539460201
NM_000135.4(FANCA):c.447dup (p.Glu150fs)
NM_000135.4(FANCA):c.513G>A (p.Trp171Ter) rs121907930
NM_000135.4(FANCA):c.548G>A (p.Trp183Ter) rs1598184500
NM_000135.4(FANCA):c.549G>A (p.Trp183Ter) rs758528624
NM_000135.4(FANCA):c.597-1G>C rs147945881
NM_000135.4(FANCA):c.641_642TG[1] (p.Cys215fs) rs1338138752
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952
NM_000135.4(FANCA):c.664G>T (p.Glu222Ter)
NM_000135.4(FANCA):c.709+5G>A rs759877008
NM_000135.4(FANCA):c.70G>T (p.Glu24Ter)
NM_000135.4(FANCA):c.710-5T>C
NM_000135.4(FANCA):c.718C>T (p.Gln240Ter) rs1184639006
NM_000135.4(FANCA):c.790C>T (p.Gln264Ter) rs1353992080
NM_000135.4(FANCA):c.793-1G>C
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter) rs372163487
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter) rs1291524243
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter) rs148100796
NM_000135.4(FANCA):c.912_913AC[2] (p.Thr306fs) rs764122657
NM_000135.4(FANCA):c.91A>T (p.Lys31Ter)
NM_000135.4(FANCA):c.97del (p.Glu33fs) rs786204238
NM_000135.4(FANCA):c.983_986TCAC[1] (p.His330fs) rs772359099

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