ClinVar Miner

List of variants studied for autosomal dominant Robinow syndrome by GeneReviews

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001330311.2(DVL1):c.1580_1592del (p.His527fs) rs797044834
NM_001330311.2(DVL1):c.1583del (p.Pro528fs) rs797044836
NM_001330311.2(DVL1):c.1594del (p.Trp532fs) rs797044835
NM_001330311.2(DVL1):c.1604del (p.Gly535fs) rs797044838
NM_001330311.2(DVL1):c.1637del (p.Pro546fs) rs797044839
NM_001330311.2(DVL1):c.1645_1646delinsC (p.Phe549fs) rs797044833
NM_001330311.2(DVL1):c.1651_1658delinsG (p.Pro551fs) rs797044840
NM_001330311.2(DVL1):c.1690del (p.Ser564fs) rs797044837
NM_003392.7(WNT5A):c.206G>A (p.Cys69Tyr) rs786204837
NM_003392.7(WNT5A):c.248G>C (p.Cys83Ser) rs786200925
NM_003392.7(WNT5A):c.257A>G (p.Tyr86Cys) rs786204836
NM_003392.7(WNT5A):c.545G>C (p.Cys182Ser) rs869312850
NM_004423.4(DVL3):c.1585del (p.Ala529fs) rs869025215
NM_004423.4(DVL3):c.1617del (p.Gln539fs) rs1553811652
NM_004423.4(DVL3):c.1715-1G>A rs869025217
NM_004423.4(DVL3):c.1715-2A>G rs869025216
NM_004423.4(DVL3):c.1716del (p.Ser573fs) rs869025218
NM_004423.4(DVL3):c.1749del (p.Ser583fs) rs869025219

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.