List of variants reported as likely pathogenic for Fanconi anemia complementation group C

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 141

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)	rs104886457	0.00007
NM_000136.3(FANCC):c.521+1G>A	rs145394391	0.00004
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter)	rs371897078	0.00003
NM_000136.3(FANCC):c.1302dup (p.Gly435fs)	rs730881709	0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)	rs104886458	0.00002
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter)	rs781542763	0.00002
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter)	rs377294947	0.00002
NM_000136.3(FANCC):c.843+1G>A	rs587779909	0.00002
NM_000136.3(FANCC):c.-79+1G>A	rs1228886763	0.00001
NM_000136.3(FANCC):c.108_109dup (p.His37fs)	rs1057517131	0.00001
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter)	rs944083227	0.00001
NM_000136.3(FANCC):c.1329+1G>T	rs1554829441	0.00001
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter)	rs1410356625	0.00001
NM_000136.3(FANCC):c.1533+1G>C	rs753885687	0.00001
NM_000136.3(FANCC):c.1628C>A (p.Ser543Ter)	rs867319477	0.00001
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter)	rs1057516291	0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter)	rs121917784	0.00001
NM_000136.3(FANCC):c.45G>A (p.Trp15Ter)	rs1831179586	0.00001
NM_000136.3(FANCC):c.522-1G>C	rs1014112491	0.00001
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter)	rs769039987	0.00001
NM_000136.3(FANCC):c.996+1G>T	rs370510954	0.00001
NC_000009.11:g.(97864133_97869347)_(97869552_97873744)del
NC_000009.11:g.(97873920_97876910)_(97879673_97887367)del
NC_000009.11:g.(97873920_97876910)_(97934430_98002930)dup
NM_000136.3(FANCC):c.1029C>A (p.Tyr343Ter)	rs2072504418
NM_000136.3(FANCC):c.1029C>G (p.Tyr343Ter)
NM_000136.3(FANCC):c.1037dup (p.Ser347fs)	rs1057516248
NM_000136.3(FANCC):c.1043_1044del (p.Leu348fs)	rs1064795597
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter)	rs759900071
NM_000136.3(FANCC):c.1072+1G>A	rs1554830789
NM_000136.3(FANCC):c.1072+2T>A
NM_000136.3(FANCC):c.1073-1G>C	rs1554830249
NM_000136.3(FANCC):c.1073-2A>G
NM_000136.3(FANCC):c.1084G>T (p.Gly362Ter)	rs2072245226
NM_000136.3(FANCC):c.1092G>A (p.Trp364Ter)
NM_000136.3(FANCC):c.1103_1104del (p.Leu368fs)	rs1057516919
NM_000136.3(FANCC):c.1114T>C (p.Ser372Pro)
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	rs1554829575
NM_000136.3(FANCC):c.1177_1178dup (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.1200dup (p.Gly401fs)
NM_000136.3(FANCC):c.1208G>A (p.Trp403Ter)	rs2071939263
NM_000136.3(FANCC):c.1228del (p.Gln410fs)
NM_000136.3(FANCC):c.1241C>A (p.Ser414Ter)	rs200719554
NM_000136.3(FANCC):c.124C>T (p.Gln42Ter)
NM_000136.3(FANCC):c.125dup (p.Glu43fs)
NM_000136.3(FANCC):c.1271G>A (p.Trp424Ter)
NM_000136.3(FANCC):c.1290C>A (p.Tyr430Ter)	rs766105286
NM_000136.3(FANCC):c.1297del (p.Arg433fs)
NM_000136.3(FANCC):c.12_14delinsAAGATCAA (p.Asp4fs)	rs1588353886
NM_000136.3(FANCC):c.1308del (p.Arg436fs)
NM_000136.3(FANCC):c.1329+1del
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter)	rs1057516298
NM_000136.3(FANCC):c.1387_1388del (p.Ala464fs)	rs730881710
NM_000136.3(FANCC):c.1392_1402del (p.Gln465fs)	rs1564641485
NM_000136.3(FANCC):c.1430_1431del (p.Thr477fs)	rs1588029220
NM_000136.3(FANCC):c.1453del (p.Gln485fs)
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>T	rs753885687
NM_000136.3(FANCC):c.1533+2T>C	rs1057517170
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.163del (p.Met55fs)
NM_000136.3(FANCC):c.165+1del	rs1554858249
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter)	rs370974124
NM_000136.3(FANCC):c.169del (p.Ser57fs)
NM_000136.3(FANCC):c.177_178del (p.Val60fs)
NM_000136.3(FANCC):c.220del (p.Ala74fs)	rs1588350264
NM_000136.3(FANCC):c.225T>A (p.Cys75Ter)
NM_000136.3(FANCC):c.227G>A (p.Trp76Ter)	rs1189888124
NM_000136.3(FANCC):c.249T>A (p.Tyr83Ter)
NM_000136.3(FANCC):c.250+1G>T
NM_000136.3(FANCC):c.251-2A>C	rs1057517219
NM_000136.3(FANCC):c.265dup (p.Ile89fs)
NM_000136.3(FANCC):c.267del (p.Ile89_Leu90insTer)	rs777918411
NM_000136.3(FANCC):c.275G>A (p.Trp92Ter)	rs1830584796
NM_000136.3(FANCC):c.276G>A (p.Trp92Ter)
NM_000136.3(FANCC):c.282_283del (p.Cys95fs)
NM_000136.3(FANCC):c.284_293del (p.Cys95fs)	rs2136049324
NM_000136.3(FANCC):c.29dup (p.Cys10fs)	rs878853671
NM_000136.3(FANCC):c.2T>C (p.Met1Thr)	rs2136102345
NM_000136.3(FANCC):c.307C>T (p.Gln103Ter)	rs1057516384
NM_000136.3(FANCC):c.315_316insCCCG (p.Gly106fs)
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter)	rs730881731
NM_000136.3(FANCC):c.323C>A (p.Ser108Ter)	rs1830581816
NM_000136.3(FANCC):c.345+1del	rs1057516247
NM_000136.3(FANCC):c.346-1G>A	rs1484503633
NM_000136.3(FANCC):c.346-1G>C
NM_000136.3(FANCC):c.353T>A (p.Leu118Ter)	rs1825725461
NM_000136.3(FANCC):c.356_360del (p.Ser119fs)	rs1060499606
NM_000136.3(FANCC):c.362_363del (p.Ile121fs)	rs1588220728
NM_000136.3(FANCC):c.377_378del (p.Arg126fs)	rs1564720637
NM_000136.3(FANCC):c.387_390del (p.Glu130fs)
NM_000136.3(FANCC):c.3G>T (p.Met1Ile)	rs1368374192
NM_000136.3(FANCC):c.406C>T (p.Gln136Ter)
NM_000136.3(FANCC):c.455dup (p.Asn152fs)	rs774170058
NM_000136.3(FANCC):c.457-1G>T	rs1057516917
NM_000136.3(FANCC):c.457-2A>G
NM_000136.3(FANCC):c.460del (p.Val154fs)	rs1825653076
NM_000136.3(FANCC):c.464T>A (p.Leu155Ter)	rs1825652774
NM_000136.3(FANCC):c.485dup (p.Glu163fs)	rs1554842611
NM_000136.3(FANCC):c.487_490del (p.Glu163fs)	rs730881708
NM_000136.3(FANCC):c.489_490del (p.Asn164fs)	rs730881708
NM_000136.3(FANCC):c.494_495del (p.His165fs)	rs1564719151
NM_000136.3(FANCC):c.507del (p.Phe169fs)	rs1588218493
NM_000136.3(FANCC):c.514C>T (p.Gln172Ter)
NM_000136.3(FANCC):c.547del (p.Leu183fs)
NM_000136.3(FANCC):c.560del (p.Cys187fs)
NM_000136.3(FANCC):c.5dup (p.Gln3fs)	rs1268491295
NM_000136.3(FANCC):c.640dup (p.Ile214fs)	rs1057517203
NM_000136.3(FANCC):c.661G>T (p.Glu221Ter)	rs1830059125
NM_000136.3(FANCC):c.683dup (p.Leu228fs)
NM_000136.3(FANCC):c.686+1G>C	rs1057517125
NM_000136.3(FANCC):c.686+1G>T	rs1057517125
NM_000136.3(FANCC):c.686+5G>A	rs1064794691
NM_000136.3(FANCC):c.705del (p.Met236fs)	rs2135168243
NM_000136.3(FANCC):c.70C>T (p.Gln24Ter)	rs2136101386
NM_000136.3(FANCC):c.745_749del (p.Pro248_Ser249insTer)
NM_000136.3(FANCC):c.793G>T (p.Glu265Ter)	rs1827526425
NM_000136.3(FANCC):c.808A>T (p.Arg270Ter)	rs776054094
NM_000136.3(FANCC):c.822C>A (p.Cys274Ter)
NM_000136.3(FANCC):c.831del (p.Asp278fs)	rs1057516792
NM_000136.3(FANCC):c.836C>G (p.Ser279Ter)
NM_000136.3(FANCC):c.843+1G>C	rs587779909
NM_000136.3(FANCC):c.883dup (p.Asp295fs)	rs1826007748
NM_000136.3(FANCC):c.897-1G>A	rs1588101086
NM_000136.3(FANCC):c.907del (p.Leu303fs)
NM_000136.3(FANCC):c.946C>T (p.Gln316Ter)	rs776529713
NM_000136.3(FANCC):c.958C>T (p.Gln320Ter)	rs1825775052
NM_000136.3(FANCC):c.996+1G>A	rs370510954
NM_000136.3(FANCC):c.996+1_996+2insGA	rs1825770738
NM_000136.3(FANCC):c.996G>A (p.Gln332=)	rs1825770865

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.