ClinVar Miner

List of variants studied for Fanconi anemia complementation group C

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 113
Download table as spreadsheet
HGVS dbSNP
FANCC, 250-BP DEL
NM_000136.3(FANCC):c.-79+1G>A rs1228886763
NM_000136.3(FANCC):c.1037dup (p.Ser347fs) rs1057516248
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.108_109dup (p.His37fs) rs1057517131
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.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.117del (p.Gln40fs) rs1057517147
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.1241C>A (p.Ser414Ter) rs200719554
NM_000136.3(FANCC):c.1275C>G (p.Leu425=) rs767126985
NM_000136.3(FANCC):c.127G>A (p.Glu43Lys) rs374836770
NM_000136.3(FANCC):c.1290C>A (p.Tyr430Ter) rs766105286
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+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.1330-8T>C rs864622221
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter) rs1057516298
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)
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter) rs1410356625
NM_000136.3(FANCC):c.1487T>G (p.Leu496Arg) rs121917785
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.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.1549_1553del (p.Glu517fs) rs1554827159
NM_000136.3(FANCC):c.1555dup (p.Thr519fs) rs794726667
NM_000136.3(FANCC):c.1587_1590dup (p.Tyr531fs) rs1554827136
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.165+1G>T rs794726668
NM_000136.3(FANCC):c.165+1del rs1554858249
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.178G>A (p.Val60Ile) rs138629441
NM_000136.3(FANCC):c.202G>A (p.Gly68Ser)
NM_000136.3(FANCC):c.214G>A (p.Ala72Thr) rs567465885
NM_000136.3(FANCC):c.251-2A>C rs1057517219
NM_000136.3(FANCC):c.267del (p.Ile89_Leu90insTer) rs777918411
NM_000136.3(FANCC):c.28T>G (p.Cys10Gly) rs147479204
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr) rs143152201
NM_000136.3(FANCC):c.307C>T (p.Gln103Ter) rs1057516384
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter) rs730881731
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter) rs1057516291
NM_000136.3(FANCC):c.345+1del rs1057516247
NM_000136.3(FANCC):c.346-1G>A rs1484503633
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs) rs587779904
NM_000136.3(FANCC):c.356_360del (p.Ser119fs) rs1060499606
NM_000136.3(FANCC):c.377_378del (p.Arg126fs) rs1564720637
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly) rs587779905
NM_000136.3(FANCC):c.3G>A (p.Met1Ile) rs1368374192
NM_000136.3(FANCC):c.3G>T (p.Met1Ile) rs1368374192
NM_000136.3(FANCC):c.413T>G (p.Leu138Arg) rs1564720454
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.456+4A>T rs104886456
NM_000136.3(FANCC):c.457-1G>T rs1057516917
NM_000136.3(FANCC):c.457-7T>C rs749994612
NM_000136.3(FANCC):c.485_486GA[1] (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.519del (p.Arg173fs) rs1564719070
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) rs781542763
NM_000136.3(FANCC):c.521+1G>A rs145394391
NM_000136.3(FANCC):c.522-4A>G rs371422485
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter) rs121917783
NM_000136.3(FANCC):c.558_563del (p.Cys187_Val188del) rs1554838595
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.3(FANCC):c.5dup (p.Gln3fs) rs1268491295
NM_000136.3(FANCC):c.620A>T (p.His207Leu) rs202038890
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259
NM_000136.3(FANCC):c.640dup (p.Ile214fs) rs1057517203
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947
NM_000136.3(FANCC):c.668T>C (p.Val223Ala) rs751410815
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000136.3(FANCC):c.686+1G>T rs1057517125
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+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)
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.996+1G>A rs370510954
NM_000136.3(FANCC):c.996+1G>T rs370510954

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.