ClinVar Miner

List of variants studied for Fanconi anemia complementation group G by Genome-Nilou Lab

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004629.2(FANCG):c.511-45A>G rs554098 0.75732
NM_004629.2(FANCG):c.84+77C>A rs504082 0.54871
NM_004629.2(FANCG):c.1636+7A>G rs587118 0.35683
NM_004629.2(FANCG):c.646+58C>T rs17885726 0.17456
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) rs17885240 0.00863
NM_004629.2(FANCG):c.20C>T (p.Ser7Phe) rs35984312 0.00138
NM_004629.2(FANCG):c.-7G>A rs772036778 0.00020
NM_004629.2(FANCG):c.722C>T (p.Pro241Leu) rs201438531 0.00010
NM_004629.2(FANCG):c.-19G>A rs762155734 0.00006
NM_004629.2(FANCG):c.1076G>A (p.Arg359Lys) rs755919340 0.00001
NM_004629.2(FANCG):c.1287C>T (p.Pro429=) rs767253119 0.00001
NM_004629.2(FANCG):c.1027C>T (p.Gln343Ter) rs1829085768
NM_004629.2(FANCG):c.842del (p.Pro281fs) rs2131055994

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.