ClinVar Miner

List of variants studied for autosomal dominant Robinow syndrome by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001330311.2(DVL1):c.1571_1583del (p.Pro524fs) rs1553173420
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.1598del (p.Pro533fs) rs869025220
NM_001330311.2(DVL1):c.1604del (p.Gly535fs) rs797044838
NM_001330311.2(DVL1):c.1631del (p.Gly544fs) rs1643645439
NM_001330311.2(DVL1):c.1645_1646delinsC (p.Phe549fs) rs797044833
NM_001330311.2(DVL1):c.1667del (p.Pro556fs) rs2100714986
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.1690del (p.Ser564fs) rs797044837
NM_001330311.2(DVL1):c.1698del (p.Ser567fs) rs1553173367
NM_001330311.2(DVL1):c.1715-1G>A rs2100704859
NM_001330311.2(DVL1):c.1731del (p.Ser578fs) rs1553172962
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_001466.4(FZD2):c.1644G>A (p.Trp548Ter) rs1568105666
NM_001466.4(FZD2):c.367_388dup (p.Phe130fs) rs2144572390
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.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.1715-2del rs2109023862
NM_004423.4(DVL3):c.1716del (p.Ser573fs) rs869025218
NM_004423.4(DVL3):c.1749del (p.Ser583fs) rs869025219
NM_004423.4(DVL3):c.1751_1754del (p.Asp584fs) rs1577052785

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.