ClinVar Miner

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

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Total variants: 220
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HGVS dbSNP
NC_000009.12:g.(?_95107056)_(95107279_?)del
NM_000136.3(FANCC):c.*338C>A rs920400068
NM_000136.3(FANCC):c.*5C>T rs117175949
NM_000136.3(FANCC):c.*604_*605del rs56271854
NM_000136.3(FANCC):c.*715_*718AGTT[2] rs56250966
NM_000136.3(FANCC):c.*97dup rs1057515705
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.1002G>A (p.Arg334=) rs772717264
NM_000136.3(FANCC):c.1006G>T (p.Ala336Ser) rs78555330
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.1048A>G (p.Met350Val) rs863224607
NM_000136.3(FANCC):c.1053G>A (p.Val351=) rs1301137678
NM_000136.3(FANCC):c.1065C>A (p.Asp355Glu) rs1588070592
NM_000136.3(FANCC):c.1067C>A (p.Pro356His) rs1060502517
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter) rs759900071
NM_000136.3(FANCC):c.1073-5C>T rs375613884
NM_000136.3(FANCC):c.1079C>G (p.Pro360Arg) rs730881721
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.1146G>C (p.Gln382His) rs770809637
NM_000136.3(FANCC):c.1154+2dup rs1386979449
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.1166G>A (p.Gly389Asp)
NM_000136.3(FANCC):c.1170C>G (p.Pro390=) rs878853668
NM_000136.3(FANCC):c.1179C>T (p.Ser393=) rs1328914149
NM_000136.3(FANCC):c.1194T>G (p.Ile398Met)
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.1241C>T (p.Ser414Leu) rs200719554
NM_000136.3(FANCC):c.1242G>A (p.Ser414=) rs587780939
NM_000136.3(FANCC):c.1244C>A (p.Ala415Glu)
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.1257del (p.Thr420fs) rs765551897
NM_000136.3(FANCC):c.1257dup (p.Thr420fs) rs765551897
NM_000136.3(FANCC):c.1259C>T (p.Thr420Met) rs779261511
NM_000136.3(FANCC):c.1260G>A (p.Thr420=)
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.1283_1285del (p.Phe428del) rs1588047930
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) rs1588047887
NM_000136.3(FANCC):c.1297C>A (p.Arg433Ser)
NM_000136.3(FANCC):c.1297C>T (p.Arg433Cys) rs369684405
NM_000136.3(FANCC):c.1298G>A (p.Arg433His) rs768676102
NM_000136.3(FANCC):c.1300G>A (p.Asp434Asn) rs864622522
NM_000136.3(FANCC):c.1302dup (p.Gly435fs) rs730881709
NM_000136.3(FANCC):c.1307G>A (p.Arg436Lys)
NM_000136.3(FANCC):c.1310A>G (p.Gln437Arg)
NM_000136.3(FANCC):c.1312_1329+68dup rs1554829415
NM_000136.3(FANCC):c.1321_1322del (p.Gln441fs)
NM_000136.3(FANCC):c.1327A>G (p.Met443Val) rs150941781
NM_000136.3(FANCC):c.1329+1G>T rs1554829441
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.1330-9A>G rs1264460608
NM_000136.3(FANCC):c.1330G>A (p.Val444Ile) rs1554828492
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.1351G>A (p.Gly451Ser) rs141805918
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) rs1588029402
NM_000136.3(FANCC):c.1392_1402del (p.Gln465fs) rs1564641485
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368
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.1428_1429CA[1] (p.Thr477fs) rs1588029220
NM_000136.3(FANCC):c.1440dup (p.Ala481fs)
NM_000136.3(FANCC):c.1464G>C (p.Arg488Ser) rs1415434775
NM_000136.3(FANCC):c.1471CTC[1] (p.Leu492del)
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.1493C>T (p.Ala498Val) rs730881725
NM_000136.3(FANCC):c.1494T>C (p.Ala498=) rs76895298
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.1513G>T (p.Ala505Ser)
NM_000136.3(FANCC):c.1518G>C (p.Trp506Cys) rs1554828332
NM_000136.3(FANCC):c.1524C>T (p.Val508=) rs765766432
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>T
NM_000136.3(FANCC):c.1533+5G>A rs1588028749
NM_000136.3(FANCC):c.1533G>C (p.Leu511=)
NM_000136.3(FANCC):c.1534-10C>T rs1356632872
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.1560C>T (p.His520=) rs150020474
NM_000136.3(FANCC):c.1561G>A (p.Glu521Lys) rs752855423
NM_000136.3(FANCC):c.1562A>C (p.Glu521Ala)
NM_000136.3(FANCC):c.1568T>C (p.Ile523Thr) rs1554827151
NM_000136.3(FANCC):c.1570G>A (p.Gly524Ser) rs755289392
NM_000136.3(FANCC):c.1573T>C (p.Phe525Leu)
NM_000136.3(FANCC):c.1575T>G (p.Phe525Leu) rs587779901
NM_000136.3(FANCC):c.1585A>C (p.Thr529Pro) rs587778326
NM_000136.3(FANCC):c.1587C>T (p.Thr529=) rs1015147630
NM_000136.3(FANCC):c.1589T>C (p.Leu530Ser) rs766809608
NM_000136.3(FANCC):c.1593C>T (p.Tyr531=) rs758842354
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=) rs1588008241
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.1615G>A (p.Glu539Lys)
NM_000136.3(FANCC):c.1618A>C (p.Ser540Arg) rs1588008112
NM_000136.3(FANCC):c.1622C>T (p.Pro541Leu) rs1554827120
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>G (p.Lys545Glu) rs1064793496
NM_000136.3(FANCC):c.1634A>G (p.Lys545Arg) rs571668582
NM_000136.3(FANCC):c.1636C>G (p.Leu546Val)
NM_000136.3(FANCC):c.1640C>T (p.Ala547Val)
NM_000136.3(FANCC):c.1641_1658dup (p.Glu553_Leu554insAspArgGluLeuLeuLys) rs1588007941
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.1655A>G (p.Lys552Arg)
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.1664G>A (p.Arg555Gln) rs369636116
NM_000136.3(FANCC):c.1669C>G (p.Gln557Glu) rs863224610
NM_000136.3(FANCC):c.1672G>T (p.Val558Phe) rs758866109
NM_000136.3(FANCC):c.687-1G>A rs1588134748
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.693G>A (p.Lys231=) rs955961811
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.778A>G (p.Lys260Glu)
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.815T>G (p.Ile272Ser)
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.835T>A (p.Ser279Thr) rs757190154
NM_000136.3(FANCC):c.838T>C (p.Ser280Pro) rs1588134159
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+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.847C>T (p.Gln283Ter)
NM_000136.3(FANCC):c.851C>T (p.Ala284Val) rs201281511
NM_000136.3(FANCC):c.862C>T (p.Pro288Ser) rs1588106749
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.883dup (p.Asp295fs)
NM_000136.3(FANCC):c.888G>A (p.Glu296=) rs779166059
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+5A>T
NM_000136.3(FANCC):c.896+6C>T rs199525333
NM_000136.3(FANCC):c.896+7G>A rs1554833182
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) rs759083348
NM_000136.3(FANCC):c.901G>A (p.Ala301Thr) rs972738983
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.913A>G (p.Thr305Ala)
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.934A>G (p.Ile312Val) rs1800366
NM_000136.3(FANCC):c.946C>T (p.Gln316Ter) rs776529713
NM_000136.3(FANCC):c.956C>T (p.Thr319Met) rs745910444
NM_000136.3(FANCC):c.957G>A (p.Thr319=) rs1060504647
NM_000136.3(FANCC):c.958C>T (p.Gln320Ter)
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>T rs370510954
NM_000136.3(FANCC):c.996+1_996+2insGA
NM_000136.3(FANCC):c.996+6T>C
NM_000136.3(FANCC):c.996+9dup rs781108327
NM_000136.3(FANCC):c.997-3C>T rs878853674
NM_000136.3(FANCC):c.997-6T>C rs1057524604
NM_000136.3(FANCC):c.998T>C (p.Leu333Pro) rs864622191

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