ClinVar Miner

List of variants reported as likely pathogenic for Robinow syndrome by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004560.4(ROR2):c.1970G>A (p.Arg657His) rs529829552 0.00001
NM_004560.4(ROR2):c.904C>T (p.Arg302Cys) rs767372181 0.00001
GRCh37/hg19 17p13.3(chr17:1-1026797)x1
GRCh37/hg19 9q22.31(chr9:94381136-94851388)x1
GRCh37/hg19 9q22.31(chr9:94499721-94518293)x1
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_001466.4(FZD2):c.1130G>A (p.Trp377Ter) rs1555657045
NM_001466.4(FZD2):c.1300G>A (p.Gly434Ser) rs1223920489
NM_001466.4(FZD2):c.1301G>T (p.Gly434Val) rs1555657073
NM_001466.4(FZD2):c.1301_1302delinsTT (p.Gly434Val) rs1555657074
NM_003392.7(WNT5A):c.247T>G (p.Cys83Gly) rs2106946273
NM_003392.7(WNT5A):c.248G>A (p.Cys83Tyr) rs786200925
NM_003392.7(WNT5A):c.461G>T (p.Cys154Phe) rs2051315439
NM_003392.7(WNT5A):c.479C>G (p.Ser160Cys) rs1553677971
NM_003392.7(WNT5A):c.487_492dup (p.Gly163_Cys164dup) rs1553677967
NM_004423.4(DVL3):c.1617del (p.Gln539fs) rs1553811652
NM_004423.4(DVL3):c.1715-2del rs2109023862
NM_004560.4(ROR2):c.1096C>T (p.Arg366Trp) rs2118683688
NM_004560.4(ROR2):c.1100A>T (p.Asn367Ile) rs2118683614
NM_004560.4(ROR2):c.1516A>T (p.Ile506Phe) rs2118626297
NM_004560.4(ROR2):c.1855C>A (p.Arg619Ser) rs1489361512
NM_004560.4(ROR2):c.2074C>A (p.Pro692Thr) rs2118616453
NM_004560.4(ROR2):c.2207G>A (p.Arg736Gln) rs980417569
NM_004560.4(ROR2):c.2215T>C (p.Phe739Leu) rs767802430
NM_004560.4(ROR2):c.248G>A (p.Cys83Tyr) rs1434209233
NM_004560.4(ROR2):c.323G>A (p.Arg108Gln) rs1587690611
NM_004560.4(ROR2):c.494+4_494+7del rs2118839436
NM_004560.4(ROR2):c.623-11G>A rs1350375399
NM_004560.4(ROR2):c.717C>A (p.Cys239Ter) rs56302651
NM_004560.4(ROR2):c.899G>T (p.Cys300Phe) rs2118699409

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.