ClinVar Miner

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

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Total variants: 164
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HGVS dbSNP
NM_000136.3(FANCC):c.*1028C>T
NM_000136.3(FANCC):c.*1045C>T rs537983135
NM_000136.3(FANCC):c.*1059A>T
NM_000136.3(FANCC):c.*1096T>C
NM_000136.3(FANCC):c.*116A>C rs7048910
NM_000136.3(FANCC):c.*1197A>G
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.*1379C>G
NM_000136.3(FANCC):c.*143A>G rs189154697
NM_000136.3(FANCC):c.*1468C>T
NM_000136.3(FANCC):c.*1483T>C rs552548603
NM_000136.3(FANCC):c.*1495T>G rs41281198
NM_000136.3(FANCC):c.*1515C>T
NM_000136.3(FANCC):c.*1516A>G rs541816451
NM_000136.3(FANCC):c.*1649A>G
NM_000136.3(FANCC):c.*1662C>T
NM_000136.3(FANCC):c.*1675A>G
NM_000136.3(FANCC):c.*1727T>A
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.*1901C>T
NM_000136.3(FANCC):c.*1968G>A rs114827984
NM_000136.3(FANCC):c.*1976C>T
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.*213T>G
NM_000136.3(FANCC):c.*2164G>A
NM_000136.3(FANCC):c.*2164G>T
NM_000136.3(FANCC):c.*2246G>T
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.*2308G>A
NM_000136.3(FANCC):c.*2402G>C
NM_000136.3(FANCC):c.*249C>T rs1046795121
NM_000136.3(FANCC):c.*250G>A
NM_000136.3(FANCC):c.*2524G>A
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.*2564C>T
NM_000136.3(FANCC):c.*267G>A
NM_000136.3(FANCC):c.*359A>G rs4647551
NM_000136.3(FANCC):c.*42G>A rs7029888
NM_000136.3(FANCC):c.*431T>C
NM_000136.3(FANCC):c.*450G>A rs149227790
NM_000136.3(FANCC):c.*476A>T
NM_000136.3(FANCC):c.*483A>G
NM_000136.3(FANCC):c.*516T>G rs1004604171
NM_000136.3(FANCC):c.*576C>T rs1057515701
NM_000136.3(FANCC):c.*577G>A
NM_000136.3(FANCC):c.*587C>T
NM_000136.3(FANCC):c.*593C>G rs561885351
NM_000136.3(FANCC):c.*5C>T rs117175949
NM_000136.3(FANCC):c.*660C>T
NM_000136.3(FANCC):c.*667C>T rs150462386
NM_000136.3(FANCC):c.*825C>A rs1057515700
NM_000136.3(FANCC):c.*884C>T rs1038927110
NM_000136.3(FANCC):c.*96A>G
NM_000136.3(FANCC):c.*983C>T rs56059656
NM_000136.3(FANCC):c.*984G>A
NM_000136.3(FANCC):c.1037dup (p.Ser347fs) rs1057516248
NM_000136.3(FANCC):c.1069C>G (p.Gln357Glu) rs759900071
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter) rs759900071
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.1103_1104del (p.Leu368fs) rs1057516919
NM_000136.3(FANCC):c.1144del (p.Gln382fs) rs1057516313
NM_000136.3(FANCC):c.1151_1152del (p.His384fs) rs1554830220
NM_000136.3(FANCC):c.1155-1G>A rs1554829575
NM_000136.3(FANCC):c.1155-1G>C
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078
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.1207T>C (p.Trp403Arg) rs1554829543
NM_000136.3(FANCC):c.1208G>A (p.Trp403Ter)
NM_000136.3(FANCC):c.1241C>A (p.Ser414Ter) rs200719554
NM_000136.3(FANCC):c.1281C>T (p.Ala427=) rs754604606
NM_000136.3(FANCC):c.1290C>A (p.Tyr430Ter) rs766105286
NM_000136.3(FANCC):c.1302dup (p.Gly435fs) rs730881709
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter) rs944083227
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.1333C>T (p.Gln445Ter) rs1057516298
NM_000136.3(FANCC):c.1345G>A (p.Val449Met) rs1800367
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.1393C>T (p.Gln465Ter) rs1035139114
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.1417C>T (p.Gln473Ter) rs1410356625
NM_000136.3(FANCC):c.1485G>A (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.1494T>G (p.Ala498=)
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.1509G>A (p.Thr503=) rs144278080
NM_000136.3(FANCC):c.1517G>A (p.Trp506Ter) rs1057516488
NM_000136.3(FANCC):c.1533+1G>C rs753885687
NM_000136.3(FANCC):c.1533+2T>C rs1057517170
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.1534-8G>A
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.1550dup (p.Ile518fs)
NM_000136.3(FANCC):c.1555dup (p.Thr519fs) rs794726667
NM_000136.3(FANCC):c.1587_1590dup (p.Tyr531fs) rs1554827136
NM_000136.3(FANCC):c.1595G>A (p.Arg532Lys) rs55939573
NM_000136.3(FANCC):c.1598_1599insAG (p.Trp533Ter)
NM_000136.3(FANCC):c.1599G>A (p.Trp533Ter) rs1057516455
NM_000136.3(FANCC):c.1628C>A (p.Ser543Ter) rs867319477
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
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.1670_1674dup (p.Ter559LysextTer?) rs1554827101
NM_000136.3(FANCC):c.700C>G (p.Leu234Val)
NM_000136.3(FANCC):c.705C>T (p.Pro235=) rs141828876
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.831del (p.Asp278fs) rs1057516792
NM_000136.3(FANCC):c.839C>T (p.Ser280Leu) rs749230615
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.871T>C (p.Phe291Leu) rs769649289
NM_000136.3(FANCC):c.897-1G>A rs1588101086
NM_000136.3(FANCC):c.897-8T>C rs878853673
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.973G>A (p.Ala325Thr) rs201407189
NM_000136.3(FANCC):c.996+1G>A rs370510954
NM_000136.3(FANCC):c.996+1G>T rs370510954
NM_000136.3(FANCC):c.996G>A (p.Gln332=)

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