ClinVar Miner

List of variants in gene combination AOPEP, FANCC reported as likely benign by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 218
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HGVS dbSNP gnomAD frequency
NM_000136.3(FANCC):c.1330-3C>T rs4647542 0.00811
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368 0.00361
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202 0.00236
NM_000136.3(FANCC):c.840G>A (p.Ser280=) rs34671520 0.00154
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259 0.00126
NM_000136.3(FANCC):c.816C>T (p.Ile272=) rs55719336 0.00074
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366 0.00051
NM_000136.3(FANCC):c.672C>T (p.Asn224=) rs150647141 0.00046
NM_000136.3(FANCC):c.705C>T (p.Pro235=) rs141828876 0.00046
NM_000136.3(FANCC):c.1374A>C (p.Arg458Ser) rs56394801 0.00038
NM_000136.3(FANCC):c.1407G>A (p.Thr469=) rs79722116 0.00020
NM_000136.3(FANCC):c.1290C>T (p.Tyr430=) rs766105286 0.00011
NM_000136.3(FANCC):c.1509G>A (p.Thr503=) rs144278080 0.00011
NM_000136.3(FANCC):c.522-4A>G rs371422485 0.00011
NM_000136.3(FANCC):c.531C>T (p.Pro177=) rs150070473 0.00007
NM_000136.3(FANCC):c.1242G>A (p.Ser414=) rs587780939 0.00006
NM_000136.3(FANCC):c.609C>T (p.Leu203=) rs567226063 0.00006
NM_000136.3(FANCC):c.1425A>G (p.Thr475=) rs199739450 0.00005
NM_000136.3(FANCC):c.1494T>C (p.Ala498=) rs76895298 0.00005
NM_000136.3(FANCC):c.1560C>T (p.His520=) rs150020474 0.00005
NM_000136.3(FANCC):c.1000C>T (p.Arg334Trp) rs140348260 0.00004
NM_000136.3(FANCC):c.1073-4G>A rs147695697 0.00004
NM_000136.3(FANCC):c.1604G>A (p.Arg535His) rs587779902 0.00004
NM_000136.3(FANCC):c.1623T>G (p.Pro541=) rs375362894 0.00004
NM_000136.3(FANCC):c.626G>A (p.Arg209His) rs587778327 0.00004
NM_000136.3(FANCC):c.1353C>T (p.Gly451=) rs745338413 0.00003
NM_000136.3(FANCC):c.1611C>A (p.Gly537=) rs1027358273 0.00003
NM_000136.3(FANCC):c.528T>C (p.Ala176=) rs1237481707 0.00003
NM_000136.3(FANCC):c.906C>G (p.Leu302=) rs766079351 0.00003
NM_000136.3(FANCC):c.1002G>A (p.Arg334=) rs772717264 0.00002
NM_000136.3(FANCC):c.1159T>C (p.Cys387Arg) rs1064793837 0.00002
NM_000136.3(FANCC):c.1161C>T (p.Cys387=) rs548998258 0.00002
NM_000136.3(FANCC):c.1248C>T (p.Ala416=) rs747051975 0.00002
NM_000136.3(FANCC):c.654G>A (p.Glu218=) rs754705988 0.00002
NM_000136.3(FANCC):c.675G>A (p.Glu225=) rs760906091 0.00002
NM_000136.3(FANCC):c.783A>T (p.Leu261=) rs1060504646 0.00002
NM_000136.3(FANCC):c.915C>T (p.Thr305=) rs138132690 0.00002
NM_000136.3(FANCC):c.975T>G (p.Ala325=) rs747463354 0.00002
NM_000136.3(FANCC):c.993G>A (p.Lys331=) rs748582850 0.00002
NM_000136.3(FANCC):c.1030A>G (p.Thr344Ala) rs1228873579 0.00001
NM_000136.3(FANCC):c.1035T>G (p.Ser345=) rs1057522277 0.00001
NM_000136.3(FANCC):c.1063G>C (p.Asp355His) rs587778325 0.00001
NM_000136.3(FANCC):c.1082G>A (p.Arg361Gln) rs761336987 0.00001
NM_000136.3(FANCC):c.1152T>C (p.His384=) rs748127093 0.00001
NM_000136.3(FANCC):c.1179C>T (p.Ser393=) rs1328914149 0.00001
NM_000136.3(FANCC):c.1275C>G (p.Leu425=) rs767126985 0.00001
NM_000136.3(FANCC):c.1281C>T (p.Ala427=) rs754604606 0.00001
NM_000136.3(FANCC):c.1291G>A (p.Gly431Ser) rs1588047887 0.00001
NM_000136.3(FANCC):c.1297C>T (p.Arg433Cys) rs369684405 0.00001
NM_000136.3(FANCC):c.1305G>C (p.Gly435=) rs765092951 0.00001
NM_000136.3(FANCC):c.1330-4C>G rs762141353 0.00001
NM_000136.3(FANCC):c.1344C>T (p.Ala448=) rs760983825 0.00001
NM_000136.3(FANCC):c.1350G>A (p.Leu450=) rs892063660 0.00001
NM_000136.3(FANCC):c.1351G>A (p.Gly451Ser) rs141805918 0.00001
NM_000136.3(FANCC):c.1355A>G (p.His452Arg) rs1224625808 0.00001
NM_000136.3(FANCC):c.1365A>C (p.Ala455=) rs1463739066 0.00001
NM_000136.3(FANCC):c.1437C>T (p.Leu479=) rs765396609 0.00001
NM_000136.3(FANCC):c.1488C>G (p.Leu496=) rs1057520505 0.00001
NM_000136.3(FANCC):c.1512C>T (p.Ile504=) rs746940880 0.00001
NM_000136.3(FANCC):c.1530C>T (p.Thr510=) rs372199352 0.00001
NM_000136.3(FANCC):c.1587C>T (p.Thr529=) rs1015147630 0.00001
NM_000136.3(FANCC):c.1588T>C (p.Leu530=) rs988780618 0.00001
NM_000136.3(FANCC):c.1593C>T (p.Tyr531=) rs758842354 0.00001
NM_000136.3(FANCC):c.1594A>C (p.Arg532=) rs764649916 0.00001
NM_000136.3(FANCC):c.1634A>G (p.Lys545Arg) rs571668582 0.00001
NM_000136.3(FANCC):c.1660C>T (p.Leu554=) rs769743634 0.00001
NM_000136.3(FANCC):c.536G>A (p.Arg179Gln) rs538875706 0.00001
NM_000136.3(FANCC):c.543G>A (p.Ala181=) rs758919360 0.00001
NM_000136.3(FANCC):c.576C>T (p.Thr192=) rs759392396 0.00001
NM_000136.3(FANCC):c.668T>C (p.Val223Ala) rs751410815 0.00001
NM_000136.3(FANCC):c.678C>T (p.Ala226=) rs775845203 0.00001
NM_000136.3(FANCC):c.839C>T (p.Ser280Leu) rs749230615 0.00001
NM_000136.3(FANCC):c.882T>C (p.Val294=) rs750639831 0.00001
NM_000136.3(FANCC):c.924C>G (p.Ala308=) rs864622225 0.00001
NM_000136.3(FANCC):c.957G>A (p.Thr319=) rs1060504647 0.00001
NM_000136.3(FANCC):c.1008A>G (p.Ala336=) rs1588070906
NM_000136.3(FANCC):c.1011C>G (p.Leu337=) rs1272166766
NM_000136.3(FANCC):c.1023T>C (p.Phe341=) rs758439579
NM_000136.3(FANCC):c.1053G>A (p.Val351=) rs1301137678
NM_000136.3(FANCC):c.1059G>A (p.Leu353=) rs1588070620
NM_000136.3(FANCC):c.1059G>T (p.Leu353=) rs1588070620
NM_000136.3(FANCC):c.1075A>G (p.Ile359Val)
NM_000136.3(FANCC):c.1086A>G (p.Gly362=) rs2134632077
NM_000136.3(FANCC):c.1095C>T (p.Leu365=) rs1057521687
NM_000136.3(FANCC):c.1098G>A (p.Gln366=) rs1564652354
NM_000136.3(FANCC):c.1107G>A (p.Lys369=) rs1321399501
NM_000136.3(FANCC):c.1125C>G (p.Leu375=) rs2134631148
NM_000136.3(FANCC):c.1170C>G (p.Pro390=) rs878853668
NM_000136.3(FANCC):c.1170C>T (p.Pro390=) rs878853668
NM_000136.3(FANCC):c.1173T>C (p.Phe391=)
NM_000136.3(FANCC):c.1186C>T (p.Leu396=)
NM_000136.3(FANCC):c.1188G>C (p.Leu396=)
NM_000136.3(FANCC):c.1192A>G (p.Ile398Val)
NM_000136.3(FANCC):c.1197C>T (p.His399=)
NM_000136.3(FANCC):c.1200C>T (p.Phe400=) rs767215159
NM_000136.3(FANCC):c.1212T>C (p.Ala404=) rs2134550393
NM_000136.3(FANCC):c.1215G>A (p.Glu405=)
NM_000136.3(FANCC):c.1215G>T (p.Glu405Asp)
NM_000136.3(FANCC):c.1218G>C (p.Met406Ile) rs766086120
NM_000136.3(FANCC):c.1227G>A (p.Glu409=) rs2134549988
NM_000136.3(FANCC):c.1244C>A (p.Ala415Glu) rs550462055
NM_000136.3(FANCC):c.1248C>G (p.Ala416=) rs747051975
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.1257C>G (p.Pro419=) rs878853669
NM_000136.3(FANCC):c.1260G>A (p.Thr420=) rs749709412
NM_000136.3(FANCC):c.1260G>C (p.Thr420=) rs749709412
NM_000136.3(FANCC):c.1264C>A (p.Leu422Met) rs756716463
NM_000136.3(FANCC):c.1264C>T (p.Leu422=) rs756716463
NM_000136.3(FANCC):c.1269G>A (p.Leu423=)
NM_000136.3(FANCC):c.1269G>T (p.Leu423=) rs1588047986
NM_000136.3(FANCC):c.1302T>C (p.Asp434=) rs2134546972
NM_000136.3(FANCC):c.1308G>A (p.Arg436=)
NM_000136.3(FANCC):c.1314G>A (p.Gln438=)
NM_000136.3(FANCC):c.1317A>G (p.Arg439=) rs1554829450
NM_000136.3(FANCC):c.1326T>C (p.Thr442=)
NM_000136.3(FANCC):c.1348C>T (p.Leu450=) rs1193661760
NM_000136.3(FANCC):c.1359C>T (p.Leu453=)
NM_000136.3(FANCC):c.1419G>A (p.Gln473=)
NM_000136.3(FANCC):c.1422C>T (p.Gly474=)
NM_000136.3(FANCC):c.1436T>C (p.Leu479Pro)
NM_000136.3(FANCC):c.1440A>G (p.Arg480=) rs757477758
NM_000136.3(FANCC):c.1443T>C (p.Ala481=)
NM_000136.3(FANCC):c.1446T>C (p.Pro482=) rs754079401
NM_000136.3(FANCC):c.1452A>G (p.Gln484=)
NM_000136.3(FANCC):c.1455G>A (p.Gln485=) rs2134455295
NM_000136.3(FANCC):c.1456C>T (p.Leu486=)
NM_000136.3(FANCC):c.1458G>T (p.Leu486=) rs1588029111
NM_000136.3(FANCC):c.1467C>T (p.His489=) rs1554828385
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.1497T>C (p.Pro499=)
NM_000136.3(FANCC):c.1497T>G (p.Pro499=)
NM_000136.3(FANCC):c.1500A>G (p.Gly500=)
NM_000136.3(FANCC):c.1503C>T (p.Gly501=) rs2134454633
NM_000136.3(FANCC):c.1506C>T (p.His502=)
NM_000136.3(FANCC):c.1516T>C (p.Trp506Arg) rs730881726
NM_000136.3(FANCC):c.1524C>G (p.Val508=)
NM_000136.3(FANCC):c.1524C>T (p.Val508=) rs765766432
NM_000136.3(FANCC):c.1530C>G (p.Thr510=) rs372199352
NM_000136.3(FANCC):c.1531C>T (p.Leu511=) rs1588028784
NM_000136.3(FANCC):c.1542C>G (p.His514Gln)
NM_000136.3(FANCC):c.1545T>A (p.Thr515=)
NM_000136.3(FANCC):c.1545T>C (p.Thr515=) rs1588008483
NM_000136.3(FANCC):c.1548T>A (p.Ala516=)
NM_000136.3(FANCC):c.1566C>T (p.Ile522=)
NM_000136.3(FANCC):c.1578T>G (p.Leu526=)
NM_000136.3(FANCC):c.1584G>A (p.Gln528=)
NM_000136.3(FANCC):c.1608T>C (p.Leu536=)
NM_000136.3(FANCC):c.1608T>G (p.Leu536=)
NM_000136.3(FANCC):c.1612A>G (p.Ile538Val)
NM_000136.3(FANCC):c.1614T>C (p.Ile538=)
NM_000136.3(FANCC):c.1620C>T (p.Ser540=)
NM_000136.3(FANCC):c.1626A>G (p.Arg542=)
NM_000136.3(FANCC):c.1629A>G (p.Ser543=) rs1352980665
NM_000136.3(FANCC):c.1656A>G (p.Lys552=)
NM_000136.3(FANCC):c.1662G>A (p.Leu554=)
NM_000136.3(FANCC):c.1663C>A (p.Arg555=) rs370974124
NM_000136.3(FANCC):c.522A>G (p.Arg174=)
NM_000136.3(FANCC):c.535C>A (p.Arg179=)
NM_000136.3(FANCC):c.543G>T (p.Ala181=)
NM_000136.3(FANCC):c.546C>A (p.Ser182=)
NM_000136.3(FANCC):c.546C>T (p.Ser182=)
NM_000136.3(FANCC):c.549G>T (p.Leu183=) rs863224611
NM_000136.3(FANCC):c.552A>G (p.Ser184=) rs2135428471
NM_000136.3(FANCC):c.561T>C (p.Cys187=)
NM_000136.3(FANCC):c.562G>A (p.Val188Ile)
NM_000136.3(FANCC):c.567A>C (p.Pro189=) rs2135428194
NM_000136.3(FANCC):c.577C>T (p.Leu193=) rs2135427993
NM_000136.3(FANCC):c.586G>T (p.Val196Phe)
NM_000136.3(FANCC):c.588T>G (p.Val196=)
NM_000136.3(FANCC):c.591C>G (p.Asp197Glu) rs1457631500
NM_000136.3(FANCC):c.594C>G (p.Pro198=)
NM_000136.3(FANCC):c.606T>A (p.Ala202=)
NM_000136.3(FANCC):c.615C>A (p.Ile205=)
NM_000136.3(FANCC):c.621T>C (p.His207=) rs1588181585
NM_000136.3(FANCC):c.624A>G (p.Gly208=) rs1588181560
NM_000136.3(FANCC):c.624A>T (p.Gly208=)
NM_000136.3(FANCC):c.633T>C (p.Pro211=) rs2135427041
NM_000136.3(FANCC):c.642C>A (p.Ile214=) rs777274497
NM_000136.3(FANCC):c.642C>T (p.Ile214=) rs777274497
NM_000136.3(FANCC):c.645C>T (p.Leu215=)
NM_000136.3(FANCC):c.648G>A (p.Gln216=)
NM_000136.3(FANCC):c.660T>C (p.Phe220=)
NM_000136.3(FANCC):c.663G>A (p.Glu221=) rs2135426464
NM_000136.3(FANCC):c.666T>C (p.Ala222=) rs2135426385
NM_000136.3(FANCC):c.682T>C (p.Leu228=)
NM_000136.3(FANCC):c.684G>A (p.Leu228=) rs1588181248
NM_000136.3(FANCC):c.714T>A (p.Ala238=)
NM_000136.3(FANCC):c.714T>C (p.Ala238=)
NM_000136.3(FANCC):c.723C>T (p.Cys241=)
NM_000136.3(FANCC):c.726C>T (p.Leu242=)
NM_000136.3(FANCC):c.735G>T (p.Arg245=) rs1174763492
NM_000136.3(FANCC):c.738C>T (p.His246=) rs1414558793
NM_000136.3(FANCC):c.759A>G (p.Ala253=)
NM_000136.3(FANCC):c.763C>T (p.Leu255=)
NM_000136.3(FANCC):c.781C>T (p.Leu261=)
NM_000136.3(FANCC):c.786C>T (p.Ile262=)
NM_000136.3(FANCC):c.819A>G (p.Glu273=)
NM_000136.3(FANCC):c.840G>C (p.Ser280=)
NM_000136.3(FANCC):c.840G>T (p.Ser280=) rs34671520
NM_000136.3(FANCC):c.849A>G (p.Gln283=) rs2134968632
NM_000136.3(FANCC):c.855C>T (p.Ala285=)
NM_000136.3(FANCC):c.867C>T (p.Ala289=) rs1588106727
NM_000136.3(FANCC):c.870A>T (p.Ile290=)
NM_000136.3(FANCC):c.888G>A (p.Glu296=) rs779166059
NM_000136.3(FANCC):c.897-3C>A
NM_000136.3(FANCC):c.900T>C (p.Cys300=)
NM_000136.3(FANCC):c.906C>T (p.Leu302=) rs766079351
NM_000136.3(FANCC):c.909G>C (p.Leu303=) rs1588100992
NM_000136.3(FANCC):c.921G>A (p.Gly307=) rs1410236696
NM_000136.3(FANCC):c.921G>C (p.Gly307=)
NM_000136.3(FANCC):c.921G>T (p.Gly307=)
NM_000136.3(FANCC):c.924C>T (p.Ala308=) rs864622225
NM_000136.3(FANCC):c.931A>G (p.Ile311Val)
NM_000136.3(FANCC):c.954T>C (p.Phe318=)
NM_000136.3(FANCC):c.960G>A (p.Gln320=)
NM_000136.3(FANCC):c.972A>G (p.Glu324=) rs1261385032

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