ClinVar Miner

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

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Total variants: 200
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.3848A>G (p.Lys1283Arg) rs146975341 0.00017
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe) rs149775657 0.00015
NM_001113525.2(ZNF276):c.*471G>C rs368506826 0.00012
NM_000135.4(FANCA):c.4177G>A (p.Val1393Met) rs199652831 0.00009
NM_000135.4(FANCA):c.4225C>T (p.Arg1409Trp) rs139478274 0.00009
NM_000135.4(FANCA):c.3962G>A (p.Arg1321His) rs374649848 0.00006
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu) rs145886270 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.3997T>C (p.Phe1333Leu) rs576079738 0.00004
NM_001113525.2(ZNF276):c.*189C>T rs886052479 0.00004
NM_000135.4(FANCA):c.4000G>A (p.Ala1334Thr) rs925649874 0.00003
NM_000135.4(FANCA):c.4121G>T (p.Ser1374Ile) rs1254151716 0.00003
NM_000135.4(FANCA):c.4037C>T (p.Ala1346Val) rs201886956 0.00002
NM_000135.4(FANCA):c.4040C>T (p.Ala1347Val) rs766710139 0.00002
NM_000135.4(FANCA):c.4117A>G (p.Thr1373Ala) rs753944130 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.4241G>A (p.Ser1414Asn) rs772122405 0.00002
NM_000135.4(FANCA):c.4294G>T (p.Val1432Leu) rs769243354 0.00002
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.3849G>T (p.Lys1283Asn) rs749869884 0.00001
NM_000135.4(FANCA):c.3893G>C (p.Arg1298Thr) rs1261384324 0.00001
NM_000135.4(FANCA):c.3949C>T (p.Arg1317Trp) rs200215131 0.00001
NM_000135.4(FANCA):c.3953T>G (p.Leu1318Arg) rs1439125894 0.00001
NM_000135.4(FANCA):c.4019C>T (p.Ser1340Phe) rs112734327 0.00001
NM_000135.4(FANCA):c.4051G>C (p.Glu1351Gln) rs761934804 0.00001
NM_000135.4(FANCA):c.4085T>A (p.Leu1362Ter) rs745688750 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.4159A>G (p.Lys1387Glu) rs1436768029 0.00001
NM_000135.4(FANCA):c.4167+2C>T rs374765708 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
NM_000135.4(FANCA):c.4298G>A (p.Ser1433Asn) rs747310276 0.00001
NM_000135.4(FANCA):c.4337C>T (p.Ala1446Val) rs2062029094 0.00001
NM_001113525.2(ZNF276):c.*1228G>A rs1206285832 0.00001
NM_001113525.2(ZNF276):c.*739A>G rs753475025 0.00001
NM_001113525.2(ZNF276):c.*883C>T rs370080063 0.00001
NC_000016.10:g.(?_89738601)_(89816616_?)dup
NC_000016.9:g.(?_89805009)_(89809366_?)dup
NC_000016.9:g.(?_89805009)_(89813308_?)dup
NC_000016.9:g.(?_89805009)_(89831484_?)dup
NC_000016.9:g.(?_89805009)_(89858965_?)dup
NC_000016.9:g.(?_89805009)_(89866066_?)dup
NC_000016.9:g.(?_89805270)_(89806527_?)dup
NC_000016.9:g.(?_89805270)_(89807294_?)dup
NM_000135.4(FANCA):c.3766C>G (p.Leu1256Val)
NM_000135.4(FANCA):c.3771G>T (p.Leu1257Phe) rs1402327994
NM_000135.4(FANCA):c.3778_3783del (p.Leu1260_Phe1261del) rs1157717956
NM_000135.4(FANCA):c.3783C>G (p.Phe1261Leu)
NM_000135.4(FANCA):c.3788T>A (p.Phe1263Tyr)
NM_000135.4(FANCA):c.3788T>C (p.Phe1263Ser) rs2062115558
NM_000135.4(FANCA):c.3792_3794del (p.Leu1265del) rs2151716800
NM_000135.4(FANCA):c.3795G>T (p.Leu1265Phe)
NM_000135.4(FANCA):c.3814C>T (p.His1272Tyr) rs2062114648
NM_000135.4(FANCA):c.3815A>G (p.His1272Arg)
NM_000135.4(FANCA):c.3850G>C (p.Ala1284Pro) rs142919010
NM_000135.4(FANCA):c.3851C>A (p.Ala1284Asp)
NM_000135.4(FANCA):c.3853T>C (p.Phe1285Leu) rs1470679036
NM_000135.4(FANCA):c.3855C>A (p.Phe1285Leu)
NM_000135.4(FANCA):c.3858C>A (p.His1286Gln) rs761705192
NM_000135.4(FANCA):c.3863G>T (p.Cys1288Phe) rs2062089641
NM_000135.4(FANCA):c.3865G>C (p.Ala1289Pro) rs2151714785
NM_000135.4(FANCA):c.3869C>T (p.Ala1290Val)
NM_000135.4(FANCA):c.3871A>G (p.Ile1291Val) rs547572315
NM_000135.4(FANCA):c.3876_3877delinsAA (p.Glu1293Lys)
NM_000135.4(FANCA):c.3877G>A (p.Glu1293Lys) rs1015729981
NM_000135.4(FANCA):c.3884T>C (p.Leu1295Ser) rs986710868
NM_000135.4(FANCA):c.3889A>G (p.Lys1297Glu)
NM_000135.4(FANCA):c.3896_3898del (p.Lys1299del)
NM_000135.4(FANCA):c.3897G>C (p.Lys1299Asn)
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.3904T>C (p.Trp1302Arg) rs878853665
NM_000135.4(FANCA):c.3908T>C (p.Leu1303Pro) rs1598055304
NM_000135.4(FANCA):c.3916T>C (p.Phe1306Leu)
NM_000135.4(FANCA):c.3919C>G (p.Gln1307Glu)
NM_000135.4(FANCA):c.3924G>T (p.Leu1308Phe) rs775127240
NM_000135.4(FANCA):c.3930G>C (p.Glu1310Asp) rs2151714594
NM_000135.4(FANCA):c.3932G>A (p.Ser1311Asn) rs2062087829
NM_000135.4(FANCA):c.3937C>T (p.Leu1313Phe) rs551306400
NM_000135.4(FANCA):c.3952C>G (p.Leu1318Val) rs2151712993
NM_000135.4(FANCA):c.3953TCC[2] (p.Leu1320del) rs927201841
NM_000135.4(FANCA):c.3955C>T (p.Leu1319Phe)
NM_000135.4(FANCA):c.3961C>A (p.Arg1321Ser) rs755375493
NM_000135.4(FANCA):c.3962G>C (p.Arg1321Pro) rs374649848
NM_000135.4(FANCA):c.3970C>T (p.Pro1324Ser) rs2151712907
NM_000135.4(FANCA):c.3975T>G (p.Asp1325Glu) rs962823945
NM_000135.4(FANCA):c.3976C>G (p.Gln1326Glu)
NM_000135.4(FANCA):c.3988C>A (p.Leu1330Met)
NM_000135.4(FANCA):c.3999C>A (p.Phe1333Leu) rs774576283
NM_000135.4(FANCA):c.4004T>C (p.Phe1335Ser)
NM_000135.4(FANCA):c.4015C>G (p.Leu1339Val)
NM_000135.4(FANCA):c.4022A>C (p.Tyr1341Ser) rs768733593
NM_000135.4(FANCA):c.4022A>G (p.Tyr1341Cys)
NM_000135.4(FANCA):c.4025T>G (p.Phe1342Cys)
NM_000135.4(FANCA):c.4026C>A (p.Phe1342Leu)
NM_000135.4(FANCA):c.4029T>G (p.His1343Gln) rs745577614
NM_000135.4(FANCA):c.4033G>C (p.Asp1345His)
NM_000135.4(FANCA):c.4039G>A (p.Ala1347Thr) rs751928369
NM_000135.4(FANCA):c.4053G>C (p.Glu1351Asp) rs1477796994
NM_000135.4(FANCA):c.4061T>C (p.Leu1354Pro)
NM_000135.4(FANCA):c.4064A>C (p.His1355Pro)
NM_000135.4(FANCA):c.4064A>G (p.His1355Arg)
NM_000135.4(FANCA):c.4070C>T (p.Ala1357Val)
NM_000135.4(FANCA):c.4075G>C (p.Asp1359His) rs1555533313
NM_000135.4(FANCA):c.4078A>G (p.Met1360Val)
NM_000135.4(FANCA):c.4084T>G (p.Leu1362Val) rs775351812
NM_000135.4(FANCA):c.4088A>G (p.Lys1363Arg) rs773947543
NM_000135.4(FANCA):c.4093G>C (p.Val1365Leu) rs529210242
NM_000135.4(FANCA):c.4099C>T (p.Leu1367Phe)
NM_000135.4(FANCA):c.4105G>A (p.Val1369Met) rs201225325
NM_000135.4(FANCA):c.4105G>C (p.Val1369Leu) rs201225325
NM_000135.4(FANCA):c.4111G>A (p.Gly1371Arg)
NM_000135.4(FANCA):c.4118C>G (p.Thr1373Arg) rs1277481284
NM_000135.4(FANCA):c.4124C>T (p.Thr1375Ile) rs2062055389
NM_000135.4(FANCA):c.4126G>A (p.Val1376Ile)
NM_000135.4(FANCA):c.4132C>T (p.Pro1378Ser) rs2062055110
NM_000135.4(FANCA):c.4135C>A (p.Pro1379Thr)
NM_000135.4(FANCA):c.4138G>A (p.Ala1380Thr) rs775234845
NM_000135.4(FANCA):c.4138G>C (p.Ala1380Pro) rs775234845
NM_000135.4(FANCA):c.4145G>C (p.Arg1382Thr) rs367970303
NM_000135.4(FANCA):c.4147A>G (p.Ser1383Gly) rs2062054242
NM_000135.4(FANCA):c.4149C>G (p.Ser1383Arg)
NM_000135.4(FANCA):c.4155G>C (p.Glu1385Asp) rs770551622
NM_000135.4(FANCA):c.4167G>C (p.Gln1389His) rs1598051449
NM_000135.4(FANCA):c.4169G>T (p.Gly1390Val) rs2062046761
NM_000135.4(FANCA):c.4186A>T (p.Ile1396Leu) rs1376923890
NM_000135.4(FANCA):c.4187T>A (p.Ile1396Lys)
NM_000135.4(FANCA):c.4187T>C (p.Ile1396Thr)
NM_000135.4(FANCA):c.4190C>A (p.Thr1397Lys)
NM_000135.4(FANCA):c.4193A>G (p.Lys1398Arg)
NM_000135.4(FANCA):c.4195G>A (p.Ala1399Thr) rs749574677
NM_000135.4(FANCA):c.4196C>T (p.Ala1399Val) rs1457671800
NM_000135.4(FANCA):c.4232C>A (p.Pro1411Gln) rs201494304
NM_000135.4(FANCA):c.4241G>C (p.Ser1414Thr) rs772122405
NM_000135.4(FANCA):c.4253T>C (p.Val1418Ala)
NM_000135.4(FANCA):c.4260G>C (p.Glu1420Asp) rs2151710661
NM_000135.4(FANCA):c.4264C>A (p.Leu1422Met)
NM_000135.4(FANCA):c.4264C>G (p.Leu1422Val)
NM_000135.4(FANCA):c.4273C>G (p.Arg1425Gly) rs587778321
NM_000135.4(FANCA):c.4274G>C (p.Arg1425Pro) rs147406377
NM_000135.4(FANCA):c.4276G>C (p.Gly1426Arg)
NM_000135.4(FANCA):c.4277G>T (p.Gly1426Val) rs1350768758
NM_000135.4(FANCA):c.4283G>C (p.Cys1428Ser)
NM_000135.4(FANCA):c.4285G>A (p.Asp1429Asn) rs748856769
NM_000135.4(FANCA):c.4286_4300dup (p.Ser1433_Ala1434insAspProGluValSer)
NM_000135.4(FANCA):c.4288C>G (p.Pro1430Ala)
NM_000135.4(FANCA):c.4291G>A (p.Glu1431Lys) rs1567591125
NM_000135.4(FANCA):c.4291G>C (p.Glu1431Gln) rs1567591125
NM_000135.4(FANCA):c.4293G>C (p.Glu1431Asp) rs1235881790
NM_000135.4(FANCA):c.4294G>A (p.Val1432Met)
NM_000135.4(FANCA):c.4295T>G (p.Val1432Gly)
NM_000135.4(FANCA):c.4299C>G (p.Ser1433Arg) rs568293451
NM_000135.4(FANCA):c.4307T>A (p.Leu1436His)
NM_000135.4(FANCA):c.4313G>A (p.Ser1438Asn)
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.4319del (p.Gln1440fs) rs2151709763
NM_000135.4(FANCA):c.4321C>T (p.Gln1441Ter)
NM_000135.4(FANCA):c.4328C>T (p.Ala1443Val)
NM_000135.4(FANCA):c.4330C>G (p.Pro1444Ala)
NM_000135.4(FANCA):c.4333G>A (p.Asp1445Asn) rs769025633
NM_000135.4(FANCA):c.4335C>G (p.Asp1445Glu)
NM_000135.4(FANCA):c.4336G>A (p.Ala1446Thr)
NM_000135.4(FANCA):c.4336G>T (p.Ala1446Ser)
NM_000135.4(FANCA):c.4343T>G (p.Leu1448Arg) rs1223154937
NM_000135.4(FANCA):c.4344_4356del (p.Ser1449fs)
NM_000135.4(FANCA):c.4346C>G (p.Ser1449Cys) rs779236651
NM_000135.4(FANCA):c.4349A>G (p.Gln1450Arg) rs757549007
NM_000135.4(FANCA):c.4351G>C (p.Glu1451Gln) rs1043241541
NM_000135.4(FANCA):c.4354C>T (p.Pro1452Ser) rs1489574740
NM_000135.4(FANCA):c.4355C>G (p.Pro1452Arg)
NM_000135.4(FANCA):c.4357C>T (p.His1453Tyr) rs1338647532
NM_000135.4(FANCA):c.4358del (p.His1453fs) rs2151709638
NM_000135.4(FANCA):c.4361T>C (p.Leu1454Pro) rs2151709628
NM_001113525.2(ZNF276):c.*1046A>G rs1257557473
NM_001113525.2(ZNF276):c.*1227G>A rs1353285713
NM_001113525.2(ZNF276):c.*1310G>C
NM_001113525.2(ZNF276):c.*1743C>T
NM_001113525.2(ZNF276):c.*1744T>C rs2062087707
NM_001113525.2(ZNF276):c.*1867G>C
NM_001113525.2(ZNF276):c.*2623G>A
NM_001113525.2(ZNF276):c.*468AG[2]
NM_001113525.2(ZNF276):c.*469G>C
NM_001113525.2(ZNF276):c.*471GAG[1] rs2151710048
NM_001113525.2(ZNF276):c.*474_*481del rs1567591276
NM_001113525.2(ZNF276):c.*475A>T rs2151710077
NM_001113525.2(ZNF276):c.*630C>A rs374793201
NM_001113525.2(ZNF276):c.*630C>G rs374793201
NM_001113525.2(ZNF276):c.*630C>T rs374793201
NM_001113525.2(ZNF276):c.*631G>A

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