ClinVar Miner

List of variants in gene FANCE reported as benign for congenital limb malformation

Included ClinVar conditions (335):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_021922.3(FANCE):c.249-35A>G rs7757405 0.74257
NM_021922.3(FANCE):c.900+39A>G rs13214239 0.42135
NM_021922.3(FANCE):c.1504G>A (p.Ala502Thr) rs9462088 0.14730
NM_021922.3(FANCE):c.1316+19G>A rs6457823 0.14669
NM_021922.3(FANCE):c.*216del rs45584740 0.08934
NM_021922.3(FANCE):c.*151A>G rs16876572 0.05645
NM_021922.3(FANCE):c.611C>T (p.Ser204Leu) rs7761870 0.03770
NM_021922.3(FANCE):c.1071C>T (p.Leu357=) rs3823434 0.02388
NM_021922.3(FANCE):c.1572G>A (p.Arg524=) rs115195341 0.00429
NM_021922.3(FANCE):c.1510-11C>T rs189384185 0.00297
NM_021922.3(FANCE):c.1310T>C (p.Met437Thr) rs142903218 0.00221
NM_021922.3(FANCE):c.253C>T (p.Pro85Ser) rs145068586 0.00212
NM_021922.3(FANCE):c.266G>T (p.Arg89Leu) rs45600543 0.00083
NM_021922.3(FANCE):c.1028G>A (p.Arg343Gln) rs45467798 0.00060
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser) rs141551053 0.00043
NM_021922.3(FANCE):c.1116C>T (p.Ile372=) rs143234424 0.00027
NM_021922.3(FANCE):c.970-16C>T rs117779586 0.00021
NM_021922.3(FANCE):c.1317-11C>T rs147572271 0.00009
NM_021922.3(FANCE):c.1509C>T (p.Asn503=) rs147166240 0.00004
NM_021922.3(FANCE):c.1378C>G (p.Arg460Gly) rs200535245
NM_021922.3(FANCE):c.1383+20dup rs770300367
NM_021922.3(FANCE):c.387A>C (p.Pro129=) rs4713867
NM_021922.3(FANCE):c.733GGA[1] (p.Gly246del) rs45451605
NM_021922.3(FANCE):c.901-3del

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.