ClinVar Miner

List of variants reported as likely pathogenic by Sema4,Sema4

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
NM_000287.4(PEX6):c.406_407insT (p.Pro136fs) rs1561830903
NM_000520.6(HEXA):c.1A>C (p.Met1Leu) rs121907965
NM_001130987.2(DYSF):c.5200del (p.Gln1734fs) rs1558771348
NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter) rs1471994744
NM_001142800.2(EYS):c.3699del (p.Leu1234fs) rs1318739667
NM_001369.2(DNAH5):c.3660del (p.Cys1221fs) rs1561476089
NM_003384.3(VRK1):c.976C>T (p.Gln326Ter) rs1566713184
NM_206933.3(USH2A):c.8266del (p.Ser2756fs) rs1558141330

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.