ClinVar Miner

List of variants in gene combination AOPEP, FANCC reported by GeneDx

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Gene type:
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Total variants: 173
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HGVS dbSNP
NM_000136.2(FANCC):c.1534-5delT rs748342368
NM_000136.3(FANCC):c.*10A>C rs1015228314
NM_000136.3(FANCC):c.*14C>T rs760413505
NM_000136.3(FANCC):c.*5C>T rs117175949
NM_000136.3(FANCC):c.*7C>T rs372511678
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.1009C>T (p.Leu337Phe) rs587779899
NM_000136.3(FANCC):c.1014G>A (p.Lys338=) rs780776360
NM_000136.3(FANCC):c.1035T>G (p.Ser345=) rs1057522277
NM_000136.3(FANCC):c.1043_1044del (p.Leu348fs) rs1064795597
NM_000136.3(FANCC):c.1063G>C (p.Asp355His) rs587778325
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter) rs759900071
NM_000136.3(FANCC):c.1071A>G (p.Gln357=) rs1057522128
NM_000136.3(FANCC):c.1072+14G>C rs763466918
NM_000136.3(FANCC):c.1072+20G>A rs773767586
NM_000136.3(FANCC):c.1073-13T>C rs1057522472
NM_000136.3(FANCC):c.1073-18A>C rs876661081
NM_000136.3(FANCC):c.1073-20G>A rs781438798
NM_000136.3(FANCC):c.1073-4G>A rs147695697
NM_000136.3(FANCC):c.1073-5C>T rs375613884
NM_000136.3(FANCC):c.1079C>T (p.Pro360Leu) rs730881721
NM_000136.3(FANCC):c.1081C>T (p.Arg361Trp) rs768508859
NM_000136.3(FANCC):c.1095C>G (p.Leu365=) rs1057521687
NM_000136.3(FANCC):c.1095C>T (p.Leu365=) rs1057521687
NM_000136.3(FANCC):c.1107G>A (p.Lys369=) rs1321399501
NM_000136.3(FANCC):c.1144C>G (p.Gln382Glu) rs778968824
NM_000136.3(FANCC):c.1155-13G>C rs747142087
NM_000136.3(FANCC):c.1155-16T>G rs1202931082
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.1201G>A (p.Gly401Arg) rs730881722
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.1248C>T (p.Ala416=) rs747051975
NM_000136.3(FANCC):c.1249G>A (p.Glu417Lys) rs140687953
NM_000136.3(FANCC):c.1252_1253delinsGA (p.Pro418Asp) rs1064795135
NM_000136.3(FANCC):c.1254C>T (p.Pro418=) rs1057521431
NM_000136.3(FANCC):c.1257C>A (p.Pro419=) rs878853669
NM_000136.3(FANCC):c.1257dup (p.Thr420fs) rs765551897
NM_000136.3(FANCC):c.1259C>T (p.Thr420Met) rs779261511
NM_000136.3(FANCC):c.1264C>A (p.Leu422Met) rs756716463
NM_000136.3(FANCC):c.1290C>T (p.Tyr430=) rs766105286
NM_000136.3(FANCC):c.1297C>T (p.Arg433Cys) rs369684405
NM_000136.3(FANCC):c.1302dup (p.Gly435fs) rs730881709
NM_000136.3(FANCC):c.1305G>C (p.Gly435=) rs765092951
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter) rs944083227
NM_000136.3(FANCC):c.1316G>A (p.Arg439Lys) rs730881723
NM_000136.3(FANCC):c.1317A>G (p.Arg439=) rs1554829450
NM_000136.3(FANCC):c.1327A>G (p.Met443Val) rs150941781
NM_000136.3(FANCC):c.1329+111C>T rs527823099
NM_000136.3(FANCC):c.1329+175C>T rs112446681
NM_000136.3(FANCC):c.1329+212C>T rs41281200
NM_000136.3(FANCC):c.1330-11C>T rs1057523289
NM_000136.3(FANCC):c.1330-4C>G rs762141353
NM_000136.3(FANCC):c.1330-6G>T rs1223668739
NM_000136.3(FANCC):c.1330-9A>G rs1264460608
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter) rs1057516298
NM_000136.3(FANCC):c.1353C>T (p.Gly451=)
NM_000136.3(FANCC):c.1355_1358delinsGCCA (p.His452_Leu453delinsArgHis) rs1064793615
NM_000136.3(FANCC):c.1357C>T (p.Leu453Phe) rs1064793901
NM_000136.3(FANCC):c.1363G>C (p.Ala455Pro) rs730881724
NM_000136.3(FANCC):c.1363G>T (p.Ala455Ser) rs730881724
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.1394A>G (p.Gln465Arg) rs1800368
NM_000136.3(FANCC):c.1399C>G (p.Leu467Val) rs1554828405
NM_000136.3(FANCC):c.1406C>T (p.Thr469Met) rs149917017
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.1425A>G (p.Thr475=) rs199739450
NM_000136.3(FANCC):c.1444_1446del (p.Pro482del) rs773270231
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.1488C>G (p.Leu496=) rs1057520505
NM_000136.3(FANCC):c.1489T>C (p.Trp497Arg) rs587779900
NM_000136.3(FANCC):c.1492G>A (p.Ala498Thr) rs1064794977
NM_000136.3(FANCC):c.1493C>T (p.Ala498Val) rs730881725
NM_000136.3(FANCC):c.1502G>A (p.Gly501Asp) rs536599109
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.1516T>C (p.Trp506Arg) rs730881726
NM_000136.3(FANCC):c.1524C>T (p.Val508=) rs765766432
NM_000136.3(FANCC):c.1527C>T (p.Ile509=) rs1554828322
NM_000136.3(FANCC):c.1534-16T>C rs1057522372
NM_000136.3(FANCC):c.1534-5T>G rs730881727
NM_000136.3(FANCC):c.1544C>G (p.Thr515Ser) rs201379302
NM_000136.3(FANCC):c.1546_1547delinsTT (p.Ala516Phe) rs1554827162
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.1575T>G (p.Phe525Leu) rs587779901
NM_000136.3(FANCC):c.1589T>C (p.Leu530Ser) rs766809608
NM_000136.3(FANCC):c.1595G>A (p.Arg532Lys) rs55939573
NM_000136.3(FANCC):c.1597T>G (p.Trp533Gly) rs730881728
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.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.1633A>C (p.Lys545Gln) rs1064793496
NM_000136.3(FANCC):c.1633A>G (p.Lys545Glu) rs1064793496
NM_000136.3(FANCC):c.1634A>G (p.Lys545Arg) rs571668582
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>A (p.Arg555=)
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000136.3(FANCC):c.1664G>A (p.Arg555Gln) rs369636116
NM_000136.3(FANCC):c.687-15A>C rs765327075
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.706A>G (p.Met236Val) rs771319430
NM_000136.3(FANCC):c.708G>A (p.Met236Ile) rs587779907
NM_000136.3(FANCC):c.710C>T (p.Ser237Leu) rs730881715
NM_000136.3(FANCC):c.733C>T (p.Arg245Trp) rs571548182
NM_000136.3(FANCC):c.738C>T (p.His246=) rs1414558793
NM_000136.3(FANCC):c.739C>T (p.Leu247Phe) rs1554835099
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.767A>G (p.His256Arg) rs730881716
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.808A>T (p.Arg270Ter) rs776054094
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.828A>G (p.Ile276Met) rs587779908
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+125G>A
NM_000136.3(FANCC):c.843+14T>A rs1554835055
NM_000136.3(FANCC):c.843+5G>A rs369082921
NM_000136.3(FANCC):c.844-14T>C rs759280421
NM_000136.3(FANCC):c.844-1G>C rs774209201
NM_000136.3(FANCC):c.851C>T (p.Ala284Val) rs201281511
NM_000136.3(FANCC):c.860A>G (p.His287Arg) rs76486610
NM_000136.3(FANCC):c.866C>T (p.Ala289Val) rs777732881
NM_000136.3(FANCC):c.875G>A (p.Arg292Gln) rs747060782
NM_000136.3(FANCC):c.880G>T (p.Val294Phe) rs758549385
NM_000136.3(FANCC):c.889A>T (p.Met297Leu) rs730881719
NM_000136.3(FANCC):c.896+13_896+48del rs749142233
NM_000136.3(FANCC):c.896+2T>G rs863224441
NM_000136.3(FANCC):c.896+6C>T rs199525333
NM_000136.3(FANCC):c.897-18T>C rs1057523054
NM_000136.3(FANCC):c.897-19C>T rs368830981
NM_000136.3(FANCC):c.897-221C>A
NM_000136.3(FANCC):c.897-234A>G
NM_000136.3(FANCC):c.897-3C>T rs1057521714
NM_000136.3(FANCC):c.897-8T>C rs878853673
NM_000136.3(FANCC):c.906C>G (p.Leu302=) rs766079351
NM_000136.3(FANCC):c.934A>C (p.Ile312Leu) rs1800366
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366
NM_000136.3(FANCC):c.938C>T (p.Ala313Val) rs730881712
NM_000136.3(FANCC):c.943A>G (p.Ile315Val) rs587779910
NM_000136.3(FANCC):c.948G>C (p.Gln316His) rs1554832851
NM_000136.3(FANCC):c.957G>A (p.Thr319=) rs1060504647
NM_000136.3(FANCC):c.967G>A (p.Val323Ile) rs730881720
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>G (p.Ser330Arg) rs374915316
NM_000136.3(FANCC):c.993G>A (p.Lys331=) rs748582850
NM_000136.3(FANCC):c.995A>G (p.Gln332Arg) rs781746980
NM_000136.3(FANCC):c.996+12C>A rs764979509
NM_000136.3(FANCC):c.996+1G>T rs370510954
NM_000136.3(FANCC):c.996+9dup rs781108327
NM_000136.3(FANCC):c.997-15T>C rs922997650
NM_000136.3(FANCC):c.997-6T>C rs1057524604

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