List of variants reported as likely pathogenic for autosomal dominant Robinow syndrome 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001330311.2(DVL1):c.1571_1583del (p.Pro524fs)	rs1553173420
NM_001330311.2(DVL1):c.1683_1698del (p.Ser562fs)	rs1553173368
NM_001330311.2(DVL1):c.1687_1691dup (p.Ser564fs)	rs1553173372
NM_001330311.2(DVL1):c.1698del (p.Ser567fs)	rs1553173367
NM_001330311.2(DVL1):c.1715-1G>A	rs2100704859
NM_001330311.2(DVL1):c.363-1G>C
NM_001466.4(FZD2):c.1130G>A (p.Trp377Ter)	rs1555657045
NM_001466.4(FZD2):c.1300G>A (p.Gly434Ser)	rs1223920489
NM_001466.4(FZD2):c.1301_1302delinsTT (p.Gly434Val)	rs1555657074
NM_004423.4(DVL3):c.1617del (p.Gln539fs)	rs1553811652

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.