ClinVar Miner

List of variants studied for Fanconi anemia complementation group C by KCCC/NGS Laboratory, Kuwait Cancer Control Center

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000136.3(FANCC):c.1155-38T>C rs4647534 0.48457
NM_000136.3(FANCC):c.408A>G (p.Gln136=) rs1800360 0.02397
NM_000136.3(FANCC):c.1345G>A (p.Val449Met) rs1800367 0.02254
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362 0.01494
NM_000136.3(FANCC):c.843+4C>T rs4647506 0.01468
NM_000136.3(FANCC):c.1330-3C>T rs4647542 0.00811
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_000136.3(FANCC):c.1329+175C>T rs112446681 0.00401
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368 0.00361
NM_000136.3(FANCC):c.-29A>C rs4647414 0.00155
NM_000136.3(FANCC):c.457-18A>G rs377206543 0.00036
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr) rs201407189 0.00028
NM_000136.3(FANCC):c.1509G>A (p.Thr503=) rs144278080 0.00011
NM_000136.3(FANCC):c.251-20T>C rs370867462 0.00009
NM_000136.3(FANCC):c.609C>T (p.Leu203=) rs567226063 0.00006
NM_000136.3(FANCC):c.1560C>T (p.His520=) rs150020474 0.00005
NM_000136.3(FANCC):c.438T>C (p.Tyr146=) rs765990832 0.00003
NM_000136.3(FANCC):c.1161C>T (p.Cys387=) rs548998258 0.00002
NM_000136.3(FANCC):c.1200C>T (p.Phe400=) rs767215159
NM_000136.3(FANCC):c.1485G>A (p.Leu495=) rs56082100

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.