ClinVar Miner

List of variants in gene combination FANCA, ZNF276 reported as uncertain significance for Fanconi anemia complementation group A

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Total variants: 145
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403 0.00349
NM_000135.4(FANCA):c.4303G>A (p.Ala1435Thr) rs74977201 0.00163
NM_000135.4(FANCA):c.*172G>A rs577149121 0.00101
NM_000135.4(FANCA):c.*843C>T rs201316239 0.00086
NM_000135.4(FANCA):c.*937A>G rs55794507 0.00051
NM_000135.4(FANCA):c.3981C>T (p.His1327=) rs141278771 0.00040
NM_000135.4(FANCA):c.*138T>A rs775549018 0.00032
NM_000135.4(FANCA):c.*521C>T rs144644592 0.00030
NM_000135.4(FANCA):c.*144G>C rs575606938 0.00029
NM_000135.4(FANCA):c.*819T>C rs186050933 0.00024
NM_000135.4(FANCA):c.*146C>T rs556325258 0.00022
NM_000135.4(FANCA):c.3801C>T (p.Gly1267=) rs143772894 0.00022
NM_000135.4(FANCA):c.3829-9G>A rs776077648 0.00022
NM_000135.4(FANCA):c.4302C>T (p.Ala1434=) rs142784426 0.00020
NM_000135.4(FANCA):c.*104G>A rs55859244 0.00019
NM_000135.4(FANCA):c.*317G>A rs201817705 0.00019
NM_000135.4(FANCA):c.3848A>G (p.Lys1283Arg) rs146975341 0.00017
NM_000135.4(FANCA):c.4261-9C>G rs368506826 0.00016
NM_000135.4(FANCA):c.*250G>A rs557319516 0.00013
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe) rs149775657 0.00013
NM_000135.4(FANCA):c.4225C>T (p.Arg1409Trp) rs139478274 0.00010
NM_000135.4(FANCA):c.3999C>T (p.Phe1333=) rs774576283 0.00009
NM_000135.4(FANCA):c.4177G>A (p.Val1393Met) rs199652831 0.00009
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu) rs145886270 0.00008
NM_000135.4(FANCA):c.*447T>C rs771942409 0.00006
NM_000135.4(FANCA):c.3766-14G>A rs34476949 0.00006
NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln) rs376523966 0.00006
NM_000135.4(FANCA):c.3962G>A (p.Arg1321His) rs374649848 0.00006
NM_000135.4(FANCA):c.4232C>T (p.Pro1411Leu) rs201494304 0.00006
NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys) rs201658945 0.00006
NM_000135.4(FANCA):c.4273C>T (p.Arg1425Cys) rs587778321 0.00006
NM_000135.4(FANCA):c.4300G>A (p.Ala1434Thr) rs374984587 0.00006
NM_000135.4(FANCA):c.4325C>G (p.Ala1442Gly) rs144171225 0.00005
NM_000135.4(FANCA):c.*42A>T rs529748804 0.00004
NM_000135.4(FANCA):c.4133C>T (p.Pro1378Leu) rs760814763 0.00004
NM_000135.4(FANCA):c.*672G>C rs17233819 0.00003
NM_000135.4(FANCA):c.3798G>A (p.Met1266Ile) rs1443680543 0.00003
NM_000135.4(FANCA):c.4000G>A (p.Ala1334Thr) rs925649874 0.00003
NM_000135.4(FANCA):c.4037C>T (p.Ala1346Val) rs201886956 0.00003
NM_000135.4(FANCA):c.4108G>T (p.Ala1370Ser) rs750839091 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.4294G>T (p.Val1432Leu) rs769243354 0.00003
NM_000135.4(FANCA):c.*1C>T rs370357192 0.00002
NM_000135.4(FANCA):c.*851G>A rs886052478 0.00002
NM_000135.4(FANCA):c.4016T>C (p.Leu1339Pro) rs1219627612 0.00002
NM_000135.4(FANCA):c.4218A>T (p.Leu1406Phe) rs752245802 0.00002
NM_000135.4(FANCA):c.4222C>A (p.Pro1408Thr) rs767206558 0.00002
NM_000135.4(FANCA):c.4252G>A (p.Val1418Met) rs145148206 0.00002
NM_000135.4(FANCA):c.4331_4332del (p.Pro1444fs) rs1030509993 0.00002
NM_000135.4(FANCA):c.*625C>T rs779094661 0.00001
NM_000135.4(FANCA):c.3809C>T (p.Ser1270Leu) rs752800577 0.00001
NM_000135.4(FANCA):c.3817C>G (p.Leu1273Val) rs759514393 0.00001
NM_000135.4(FANCA):c.3838G>A (p.Asp1280Asn) rs914045767 0.00001
NM_000135.4(FANCA):c.3843G>A (p.Leu1281=) rs768380959 0.00001
NM_000135.4(FANCA):c.3858C>T (p.His1286=) rs761705192 0.00001
NM_000135.4(FANCA):c.3893G>C (p.Arg1298Thr) rs1261384324 0.00001
NM_000135.4(FANCA):c.3897G>C (p.Lys1299Asn) rs151241802 0.00001
NM_000135.4(FANCA):c.3949C>T (p.Arg1317Trp) rs200215131 0.00001
NM_000135.4(FANCA):c.4019C>T (p.Ser1340Phe) rs112734327 0.00001
NM_000135.4(FANCA):c.4031A>G (p.Glu1344Gly) rs778544563 0.00001
NM_000135.4(FANCA):c.4098G>C (p.Gln1366His) rs1041491550 0.00001
NM_000135.4(FANCA):c.4099C>G (p.Leu1367Val) rs2062056417 0.00001
NM_000135.4(FANCA):c.4113G>T (p.Gly1371=) rs1060501882 0.00001
NM_000135.4(FANCA):c.4128T>C (p.Val1376=) rs1209384219 0.00001
NM_000135.4(FANCA):c.4167+2C>T rs374765708 0.00001
NM_000135.4(FANCA):c.4167+4G>A rs370080063 0.00001
NM_000135.4(FANCA):c.4186A>G (p.Ile1396Val) rs1376923890 0.00001
NM_000135.4(FANCA):c.4188A>G (p.Ile1396Met) rs1441175300 0.00001
NM_000135.4(FANCA):c.4274G>A (p.Arg1425His) rs147406377 0.00001
NC_000016.10:g.(89738709_89738881)_(89752223_89758576)del
NC_000016.10:g.(89739290_89739477)_(89811072_89814519)del
NC_000016.10:g.(89740100_89740803)_(89816657_?)del
NC_000016.10:g.(?_89737551)_(89740100_89740803)del
NC_000016.10:g.(?_89737551)_(89758706_89761948)del
NC_000016.10:g.(?_89737551)_(89767238_89769836)del
NC_000016.10:g.(?_89737551)_(89815987_89816536)del
NM_000135.4(FANCA):c.*1012A>G rs886052477
NM_000135.4(FANCA):c.*109C>T rs55679217
NM_000135.4(FANCA):c.3771G>C (p.Leu1257Phe)
NM_000135.4(FANCA):c.3778C>G (p.Leu1260Val)
NM_000135.4(FANCA):c.3784T>C (p.Phe1262Leu) rs1555534579
NM_000135.4(FANCA):c.3789_3794dup (p.Ser1264_Leu1265insPheSer) rs2544095133
NM_000135.4(FANCA):c.3792_3794del (p.Leu1265del) rs2151716800
NM_000135.4(FANCA):c.3795G>C (p.Leu1265Phe) rs1010989878
NM_000135.4(FANCA):c.3795G>T (p.Leu1265Phe) rs1010989878
NM_000135.4(FANCA):c.3803T>C (p.Leu1268Pro)
NM_000135.4(FANCA):c.3820A>G (p.Thr1274Ala)
NM_000135.4(FANCA):c.3833C>T (p.Thr1278Ile)
NM_000135.4(FANCA):c.3836C>G (p.Thr1279Arg)
NM_000135.4(FANCA):c.3845C>G (p.Pro1282Arg)
NM_000135.4(FANCA):c.3850G>A (p.Ala1284Thr) rs142919010
NM_000135.4(FANCA):c.3850G>C (p.Ala1284Pro) rs142919010
NM_000135.4(FANCA):c.3859G>T (p.Val1287Phe) rs17227354
NM_000135.4(FANCA):c.3877G>A (p.Glu1293Lys) rs1015729981
NM_000135.4(FANCA):c.3878del (p.Glu1293fs) rs2062089336
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter) rs986710868
NM_000135.4(FANCA):c.3898A>G (p.Ile1300Val) rs1232415717
NM_000135.4(FANCA):c.3901T>A (p.Ser1301Thr) rs765162125
NM_000135.4(FANCA):c.3901T>C (p.Ser1301Pro)
NM_000135.4(FANCA):c.3934+1G>A rs2062087795
NM_000135.4(FANCA):c.3934+1_3934+18del rs2062086999
NM_000135.4(FANCA):c.3935-7G>A rs2062071481
NM_000135.4(FANCA):c.3947G>A (p.Gly1316Glu)
NM_000135.4(FANCA):c.3953TCC[2] (p.Leu1320del) rs927201841
NM_000135.4(FANCA):c.3953_3954delinsGG (p.Leu1318Arg)
NM_000135.4(FANCA):c.3961C>T (p.Arg1321Cys) rs755375493
NM_000135.4(FANCA):c.3964G>A (p.Val1322Met)
NM_000135.4(FANCA):c.3979C>T (p.His1327Tyr)
NM_000135.4(FANCA):c.3989_3994del (p.Leu1330_Leu1331del) rs1555533593
NM_000135.4(FANCA):c.3998T>A (p.Phe1333Tyr)
NM_000135.4(FANCA):c.3999C>A (p.Phe1333Leu) rs774576283
NM_000135.4(FANCA):c.4010+12C>T rs1445940471
NM_000135.4(FANCA):c.4010G>A (p.Ser1337Asn) rs2062067864
NM_000135.4(FANCA):c.4011-18C>G
NM_000135.4(FANCA):c.4022A>C (p.Tyr1341Ser) rs768733593
NM_000135.4(FANCA):c.4037C>G (p.Ala1346Gly)
NM_000135.4(FANCA):c.4040C>T (p.Ala1347Val) rs766710139
NM_000135.4(FANCA):c.4053G>C (p.Glu1351Asp) rs1477796994
NM_000135.4(FANCA):c.4056C>T (p.Ala1352=) rs2062057880
NM_000135.4(FANCA):c.4075G>T (p.Asp1359Tyr) rs1555533313
NM_000135.4(FANCA):c.4080G>A (p.Met1360Ile) rs1555533300
NM_000135.4(FANCA):c.4109C>G (p.Ala1370Gly)
NM_000135.4(FANCA):c.4117A>T (p.Thr1373Ser)
NM_000135.4(FANCA):c.4145G>C (p.Arg1382Thr) rs367970303
NM_000135.4(FANCA):c.4162G>A (p.Gly1388Ser)
NM_000135.4(FANCA):c.4167+5G>A rs2544078515
NM_000135.4(FANCA):c.4167G>T (p.Gln1389His) rs1598051449
NM_000135.4(FANCA):c.4168-4C>T rs775180524
NM_000135.4(FANCA):c.4174C>T (p.Pro1392Ser) rs2544076511
NM_000135.4(FANCA):c.4196C>T (p.Ala1399Val) rs1457671800
NM_000135.4(FANCA):c.4260+5C>G
NM_000135.4(FANCA):c.4260+6G>C rs374793201
NM_000135.4(FANCA):c.4260+6G>T rs374793201
NM_000135.4(FANCA):c.4261-2A>G rs915983602
NM_000135.4(FANCA):c.4261-7C>G rs1567591243
NM_000135.4(FANCA):c.4273C>G (p.Arg1425Gly) rs587778321
NM_000135.4(FANCA):c.4277G>A (p.Gly1426Glu)
NM_000135.4(FANCA):c.4285G>A (p.Asp1429Asn) rs748856769
NM_000135.4(FANCA):c.4304C>G (p.Ala1435Gly)
NM_000135.4(FANCA):c.4316G>C (p.Arg1439Thr) rs587778322
NM_000135.4(FANCA):c.4318C>T (p.Gln1440Ter) rs767234774
NM_000135.4(FANCA):c.4333G>A (p.Asp1445Asn) rs769025633
NM_000135.4(FANCA):c.4347_*11del (p.Ser1449_Ter1456delinsXaa)
NM_000135.4(FANCA):c.4359T>A (p.His1453Gln)

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