ClinVar Miner

List of variants studied for Fanconi anemia complementation group N by Leiden Open Variation Database

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024675.4(PALB2):c.395del (p.Val132fs) rs180177085 0.00001
NC_000016.10:g.(23614092_23621361)_(23641357_?)del
NG_007406.1:g.(5249_8228)_(17155_19960)del
NM_024675.4(PALB2):c.1676_1677delinsG (p.Gln559fs) rs515726073
NM_024675.4(PALB2):c.2393_2394insCT (p.Thr799fs) rs180177113
NM_024675.4(PALB2):c.3294_3298del (p.Lys1098fs) rs180177134

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.