ClinVar Miner

List of variants in gene AOPEP, FANCC studied for Fanconi anemia

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 260
Download table as spreadsheet
HGVS dbSNP
NC_000009.11:g.(?_97869338)_(97869561_?)del
NM_000136.3(FANCC):c.*1045C>T rs537983135
NM_000136.3(FANCC):c.*116A>C rs7048910
NM_000136.3(FANCC):c.*1262T>C rs45520432
NM_000136.3(FANCC):c.*1276C>A rs1057515698
NM_000136.3(FANCC):c.*1288T>C rs4647554
NM_000136.3(FANCC):c.*1332A>G rs191983554
NM_000136.3(FANCC):c.*1339C>T rs144155068
NM_000136.3(FANCC):c.*1359C>G rs1009336483
NM_000136.3(FANCC):c.*143A>G rs189154697
NM_000136.3(FANCC):c.*1483T>C rs552548603
NM_000136.3(FANCC):c.*1495T>G rs41281198
NM_000136.3(FANCC):c.*1516A>G rs541816451
NM_000136.3(FANCC):c.*1727T>C rs4647557
NM_000136.3(FANCC):c.*1871G>A rs4647558
NM_000136.3(FANCC):c.*1879C>T rs192262179
NM_000136.3(FANCC):c.*1895T>C rs56161090
NM_000136.3(FANCC):c.*1895T>G rs56161090
NM_000136.3(FANCC):c.*1968G>A rs114827984
NM_000136.3(FANCC):c.*2052G>C rs539833295
NM_000136.3(FANCC):c.*2085C>A rs4647559
NM_000136.3(FANCC):c.*2128C>T rs567507884
NM_000136.3(FANCC):c.*2271G>A rs562841213
NM_000136.3(FANCC):c.*2296G>A rs561975553
NM_000136.3(FANCC):c.*2305G>A rs562465438
NM_000136.3(FANCC):c.*249C>T rs1046795121
NM_000136.3(FANCC):c.*2528A>G rs1057515696
NM_000136.3(FANCC):c.*254G>A rs773331481
NM_000136.3(FANCC):c.*2552T>C rs9673
NM_000136.3(FANCC):c.*338C>A rs920400068
NM_000136.3(FANCC):c.*359A>G rs4647551
NM_000136.3(FANCC):c.*42G>A rs7029888
NM_000136.3(FANCC):c.*450G>A rs149227790
NM_000136.3(FANCC):c.*516T>G rs1004604171
NM_000136.3(FANCC):c.*576C>T rs1057515701
NM_000136.3(FANCC):c.*593C>G rs561885351
NM_000136.3(FANCC):c.*5C>T rs117175949
NM_000136.3(FANCC):c.*604_*605del rs56271854
NM_000136.3(FANCC):c.*667C>T rs150462386
NM_000136.3(FANCC):c.*715_*718AGTT[2] rs56250966
NM_000136.3(FANCC):c.*825C>A rs1057515700
NM_000136.3(FANCC):c.*884C>T rs1038927110
NM_000136.3(FANCC):c.*97dup rs1057515705
NM_000136.3(FANCC):c.*983C>T rs56059656
NM_000136.3(FANCC):c.1000C>T (p.Arg334Trp) rs140348260
NM_000136.3(FANCC):c.1001G>A (p.Arg334Gln) rs377468919
NM_000136.3(FANCC):c.1006G>T (p.Ala336Ser)
NM_000136.3(FANCC):c.1009C>T (p.Leu337Phe) rs587779899
NM_000136.3(FANCC):c.1019A>G (p.Tyr340Cys) rs746828156
NM_000136.3(FANCC):c.1023T>C (p.Phe341=) rs758439579
NM_000136.3(FANCC):c.1024C>G (p.Pro342Ala) rs863224606
NM_000136.3(FANCC):c.1030A>G (p.Thr344Ala) rs1228873579
NM_000136.3(FANCC):c.1037dup (p.Ser347fs) rs1057516248
NM_000136.3(FANCC):c.1048A>G (p.Met350Val) rs863224607
NM_000136.3(FANCC):c.1067C>A (p.Pro356His) rs1060502517
NM_000136.3(FANCC):c.1069C>G (p.Gln357Glu)
NM_000136.3(FANCC):c.1072+1G>A rs1554830789
NM_000136.3(FANCC):c.1073-1G>C rs1554830249
NM_000136.3(FANCC):c.1073-4G>A rs147695697
NM_000136.3(FANCC):c.1073-5C>T rs375613884
NM_000136.3(FANCC):c.1079C>G (p.Pro360Arg)
NM_000136.3(FANCC):c.1081C>T (p.Arg361Trp) rs768508859
NM_000136.3(FANCC):c.1082G>A (p.Arg361Gln) rs761336987
NM_000136.3(FANCC):c.1090T>C (p.Trp364Arg) rs771694972
NM_000136.3(FANCC):c.1093C>T (p.Leu365Phe) rs1060502514
NM_000136.3(FANCC):c.1098G>C (p.Gln366His) rs1564652354
NM_000136.3(FANCC):c.1103_1104del (p.Leu368fs) rs1057516919
NM_000136.3(FANCC):c.1144del (p.Gln382fs) rs1057516313
NM_000136.3(FANCC):c.1146G>C (p.Gln382His) rs770809637
NM_000136.3(FANCC):c.1151_1152del (p.His384fs) rs1554830220
NM_000136.3(FANCC):c.1154+2dup rs1386979449
NM_000136.3(FANCC):c.1155-1G>A rs1554829575
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202
NM_000136.3(FANCC):c.1159T>C (p.Cys387Arg) rs1064793837
NM_000136.3(FANCC):c.1161C>T (p.Cys387=) rs548998258
NM_000136.3(FANCC):c.1162G>A (p.Gly388Arg) rs371897078
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078
NM_000136.3(FANCC):c.1170C>G (p.Pro390=) rs878853668
NM_000136.3(FANCC):c.1175_1176AG[3] (p.Ser393fs) rs1554829561
NM_000136.3(FANCC):c.1182G>A (p.Trp394Ter) rs1554829555
NM_000136.3(FANCC):c.1200C>T (p.Phe400=) rs767215159
NM_000136.3(FANCC):c.1201G>A (p.Gly401Arg) rs730881722
NM_000136.3(FANCC):c.1207T>C (p.Trp403Arg) rs1554829543
NM_000136.3(FANCC):c.1241C>A (p.Ser414Ter) rs200719554
NM_000136.3(FANCC):c.1241C>T (p.Ser414Leu)
NM_000136.3(FANCC):c.1242G>A (p.Ser414=) rs587780939
NM_000136.3(FANCC):c.1244C>T (p.Ala415Val) rs550462055
NM_000136.3(FANCC):c.1249G>A (p.Glu417Lys) rs140687953
NM_000136.3(FANCC):c.1256C>G (p.Pro419Arg) rs864622514
NM_000136.3(FANCC):c.1257C>A (p.Pro419=) rs878853669
NM_000136.3(FANCC):c.1257del (p.Thr420fs)
NM_000136.3(FANCC):c.1257dup (p.Thr420fs) rs765551897
NM_000136.3(FANCC):c.1262C>G (p.Ala421Gly) rs863224608
NM_000136.3(FANCC):c.1264C>A (p.Leu422Met) rs756716463
NM_000136.3(FANCC):c.1275C>G (p.Leu425=) rs767126985
NM_000136.3(FANCC):c.1281C>T (p.Ala427=) rs754604606
NM_000136.3(FANCC):c.1283_1285del (p.Phe428del)
NM_000136.3(FANCC):c.1290C>A (p.Tyr430Ter) rs766105286
NM_000136.3(FANCC):c.1290C>T (p.Tyr430=) rs766105286
NM_000136.3(FANCC):c.1291G>A (p.Gly431Ser)
NM_000136.3(FANCC):c.1297C>T (p.Arg433Cys) rs369684405
NM_000136.3(FANCC):c.1298G>A (p.Arg433His)
NM_000136.3(FANCC):c.1300G>A (p.Asp434Asn) rs864622522
NM_000136.3(FANCC):c.1302dup (p.Gly435fs) rs730881709
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter) rs944083227
NM_000136.3(FANCC):c.1312_1329+68dup rs1554829415
NM_000136.3(FANCC):c.1327A>G (p.Met443Val) rs150941781
NM_000136.3(FANCC):c.1329+10A>G rs977427150
NM_000136.3(FANCC):c.1329+134del rs1554829392
NM_000136.3(FANCC):c.1329+157C>T rs1554829380
NM_000136.3(FANCC):c.1329+166_1329+168del rs1554829374
NM_000136.3(FANCC):c.1329+169C>T rs1554829373
NM_000136.3(FANCC):c.1329+181_1329+183del rs587778328
NM_000136.3(FANCC):c.1329+1G>T rs1554829441
NM_000136.3(FANCC):c.1329+238C>T rs768988593
NM_000136.3(FANCC):c.1329+246del rs542091036
NM_000136.3(FANCC):c.1329+265T>G rs1554829329
NM_000136.3(FANCC):c.1329+5del rs878853670
NM_000136.3(FANCC):c.1330-3C>T rs4647542
NM_000136.3(FANCC):c.1330-8T>C rs864622221
NM_000136.3(FANCC):c.1330G>A (p.Val444Ile) rs1554828492
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter) rs1057516298
NM_000136.3(FANCC):c.1344C>T (p.Ala448=) rs760983825
NM_000136.3(FANCC):c.1345G>A (p.Val449Met) rs1800367
NM_000136.3(FANCC):c.1361T>C (p.Leu454Pro) rs1554828451
NM_000136.3(FANCC):c.1363G>T (p.Ala455Ser) rs730881724
NM_000136.3(FANCC):c.1366A>G (p.Met456Val) rs1554828443
NM_000136.3(FANCC):c.1368G>T (p.Met456Ile) rs863224609
NM_000136.3(FANCC):c.1374A>C (p.Arg458Ser) rs56394801
NM_000136.3(FANCC):c.1385_1386TC[1] (p.Ala464fs) rs730881710
NM_000136.3(FANCC):c.1388C>T (p.Ser463Leu)
NM_000136.3(FANCC):c.1392_1402del (p.Gln465fs) rs1564641485
NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter)
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368
NM_000136.3(FANCC):c.1407G>A (p.Thr469=) rs79722116
NM_000136.3(FANCC):c.1414G>A (p.Gly472Arg) rs201063698
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter) rs1410356625
NM_000136.3(FANCC):c.1425A>G (p.Thr475=) rs199739450
NM_000136.3(FANCC):c.1428_1429CA[1] (p.Thr477fs)
NM_000136.3(FANCC):c.1464G>C (p.Arg488Ser) rs1415434775
NM_000136.3(FANCC):c.1485G>A (p.Leu495=) rs56082100
NM_000136.3(FANCC):c.1485G>C (p.Leu495=) rs56082100
NM_000136.3(FANCC):c.1487T>G (p.Leu496Arg) rs121917785
NM_000136.3(FANCC):c.1493C>T (p.Ala498Val) rs730881725
NM_000136.3(FANCC):c.1494T>C (p.Ala498=) rs76895298
NM_000136.3(FANCC):c.1495C>T (p.Pro499Ser) rs1564641164
NM_000136.3(FANCC):c.1498G>T (p.Gly500Ter) rs1057516963
NM_000136.3(FANCC):c.1508C>T (p.Thr503Met) rs779982610
NM_000136.3(FANCC):c.1509G>A (p.Thr503=) rs144278080
NM_000136.3(FANCC):c.1513G>A (p.Ala505Thr) rs780179187
NM_000136.3(FANCC):c.1517G>A (p.Trp506Ter) rs1057516488
NM_000136.3(FANCC):c.1518G>C (p.Trp506Cys) rs1554828332
NM_000136.3(FANCC):c.1530C>T (p.Thr510=) rs372199352
NM_000136.3(FANCC):c.1532T>C (p.Leu511Pro) rs1554828313
NM_000136.3(FANCC):c.1533+1G>C rs753885687
NM_000136.3(FANCC):c.1533+2T>C rs1057517170
NM_000136.3(FANCC):c.1533+5G>A
NM_000136.3(FANCC):c.1533+9C>T rs863224323
NM_000136.3(FANCC):c.1534-1G>T rs1364238660
NM_000136.3(FANCC):c.1534-2A>G rs1554827166
NM_000136.3(FANCC):c.1534-5T>G rs730881727
NM_000136.3(FANCC):c.1534-5del rs748342368
NM_000136.3(FANCC):c.1544C>G (p.Thr515Ser) rs201379302
NM_000136.3(FANCC):c.1549_1553del (p.Glu517fs) rs1554827159
NM_000136.3(FANCC):c.1555dup (p.Thr519fs) rs794726667
NM_000136.3(FANCC):c.1560C>T (p.His520=) rs150020474
NM_000136.3(FANCC):c.1561G>A (p.Glu521Lys) rs752855423
NM_000136.3(FANCC):c.1568T>C (p.Ile523Thr) rs1554827151
NM_000136.3(FANCC):c.1570G>A (p.Gly524Ser)
NM_000136.3(FANCC):c.1575T>G (p.Phe525Leu) rs587779901
NM_000136.3(FANCC):c.1587_1590dup (p.Tyr531fs) rs1554827136
NM_000136.3(FANCC):c.1589T>C (p.Leu530Ser) rs766809608
NM_000136.3(FANCC):c.1594A>C (p.Arg532=) rs764649916
NM_000136.3(FANCC):c.1595G>A (p.Arg532Lys) rs55939573
NM_000136.3(FANCC):c.1596A>G (p.Arg532=)
NM_000136.3(FANCC):c.1599G>A (p.Trp533Ter) rs1057516455
NM_000136.3(FANCC):c.1603C>T (p.Arg535Cys) rs185822330
NM_000136.3(FANCC):c.1604G>A (p.Arg535His) rs587779902
NM_000136.3(FANCC):c.1607T>C (p.Leu536Pro) rs587779903
NM_000136.3(FANCC):c.1611C>A (p.Gly537=) rs1027358273
NM_000136.3(FANCC):c.1618A>C (p.Ser540Arg)
NM_000136.3(FANCC):c.1622C>T (p.Pro541Leu) rs1554827120
NM_000136.3(FANCC):c.1623T>G (p.Pro541=) rs375362894
NM_000136.3(FANCC):c.1627_1628delinsAA (p.Ser543Lys) rs864622417
NM_000136.3(FANCC):c.1628C>A (p.Ser543Ter) rs867319477
NM_000136.3(FANCC):c.1634A>G (p.Lys545Arg) rs571668582
NM_000136.3(FANCC):c.1641_1658dup (p.Glu553_Leu554insAspArgGluLeuLeuLys)
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000136.3(FANCC):c.1643G>A (p.Arg548Gln) rs730881729
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000136.3(FANCC):c.1669C>G (p.Gln557Glu) rs863224610
NM_000136.3(FANCC):c.1670_1674dup (p.Ter559LysextTer?) rs1554827101
NM_000136.3(FANCC):c.1672G>T (p.Val558Phe)
NM_000136.3(FANCC):c.687-1G>A
NM_000136.3(FANCC):c.687G>A (p.Leu229=) rs864622527
NM_000136.3(FANCC):c.689_691AGA[1] (p.Lys231del) rs3831244
NM_000136.3(FANCC):c.705C>T (p.Pro235=) rs141828876
NM_000136.3(FANCC):c.733C>T (p.Arg245Trp) rs571548182
NM_000136.3(FANCC):c.745A>G (p.Ser249Gly) rs539583288
NM_000136.3(FANCC):c.748C>A (p.Leu250Ile) rs778966663
NM_000136.3(FANCC):c.760A>G (p.Met254Val) rs757294568
NM_000136.3(FANCC):c.767A>G (p.His256Arg) rs730881716
NM_000136.3(FANCC):c.770T>C (p.Leu257Pro) rs1060502515
NM_000136.3(FANCC):c.783A>C (p.Leu261=) rs1060504646
NM_000136.3(FANCC):c.790A>G (p.Ser264Gly) rs111657009
NM_000136.3(FANCC):c.792T>G (p.Ser264Arg) rs730881717
NM_000136.3(FANCC):c.800A>G (p.Asn267Ser) rs200854639
NM_000136.3(FANCC):c.802T>A (p.Cys268Ser) rs730881718
NM_000136.3(FANCC):c.816C>T (p.Ile272=) rs55719336
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys) rs143181565
NM_000136.3(FANCC):c.823T>C (p.Phe275Leu) rs745621828
NM_000136.3(FANCC):c.826A>G (p.Ile276Val) rs377085045
NM_000136.3(FANCC):c.831del (p.Asp278fs) rs1057516792
NM_000136.3(FANCC):c.835T>A (p.Ser279Thr) rs757190154
NM_000136.3(FANCC):c.838T>C (p.Ser280Pro)
NM_000136.3(FANCC):c.839C>T (p.Ser280Leu) rs749230615
NM_000136.3(FANCC):c.840G>A (p.Ser280=) rs34671520
NM_000136.3(FANCC):c.843+1G>A rs587779909
NM_000136.3(FANCC):c.843+1G>C rs587779909
NM_000136.3(FANCC):c.843+4C>T rs4647506
NM_000136.3(FANCC):c.843+5G>A rs369082921
NM_000136.3(FANCC):c.844-10_844-8del rs758617953
NM_000136.3(FANCC):c.844-1G>C rs774209201
NM_000136.3(FANCC):c.847C>A (p.Gln283Lys) rs1564667865
NM_000136.3(FANCC):c.851C>T (p.Ala284Val) rs201281511
NM_000136.3(FANCC):c.871T>C (p.Phe291Leu)
NM_000136.3(FANCC):c.875G>A (p.Arg292Gln) rs747060782
NM_000136.3(FANCC):c.882T>C (p.Val294=) rs750639831
NM_000136.3(FANCC):c.891G>T (p.Met297Ile) rs1554833192
NM_000136.3(FANCC):c.896+1G>C rs1554833186
NM_000136.3(FANCC):c.896+2T>G rs863224441
NM_000136.3(FANCC):c.896+6C>T rs199525333
NM_000136.3(FANCC):c.896+7G>A rs1554833182
NM_000136.3(FANCC):c.897-10C>T rs955495354
NM_000136.3(FANCC):c.897-3C>T rs1057521714
NM_000136.3(FANCC):c.897-8T>C rs878853673
NM_000136.3(FANCC):c.897G>T (p.Arg299Ser)
NM_000136.3(FANCC):c.906C>G (p.Leu302=) rs766079351
NM_000136.3(FANCC):c.906C>T (p.Leu302=) rs766079351
NM_000136.3(FANCC):c.915C>T (p.Thr305=) rs138132690
NM_000136.3(FANCC):c.916G>A (p.Asp306Asn) rs772992002
NM_000136.3(FANCC):c.918T>G (p.Asp306Glu) rs1564665867
NM_000136.3(FANCC):c.924C>G (p.Ala308=) rs864622225
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366
NM_000136.3(FANCC):c.941_943dup (p.Thr314dup) rs1554832862
NM_000136.3(FANCC):c.946C>T (p.Gln316Ter) rs776529713
NM_000136.3(FANCC):c.956C>T (p.Thr319Met)
NM_000136.3(FANCC):c.957G>A (p.Thr319=) rs1060504647
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr) rs201407189
NM_000136.3(FANCC):c.974C>T (p.Ala325Val) rs367618818
NM_000136.3(FANCC):c.990C>A (p.Ser330Arg) rs374915316
NM_000136.3(FANCC):c.990C>G (p.Ser330Arg) rs374915316
NM_000136.3(FANCC):c.992A>G (p.Lys331Arg) rs756408779
NM_000136.3(FANCC):c.993G>A (p.Lys331=) rs748582850
NM_000136.3(FANCC):c.996+1G>A rs370510954
NM_000136.3(FANCC):c.996+1G>T rs370510954
NM_000136.3(FANCC):c.996+9dup rs781108327
NM_000136.3(FANCC):c.997-3C>T rs878853674
NM_000136.3(FANCC):c.998T>C (p.Leu333Pro) rs864622191

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