ClinVar Miner

List of variants reported as likely pathogenic for Usher syndrome by Mendelics

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549 0.00011
NM_022124.6(CDH23):c.5584G>A (p.Glu1862Lys) rs773004408 0.00001
NM_206933.4(USH2A):c.1547G>T (p.Gly516Val) rs1415484067 0.00001
NM_206933.4(USH2A):c.3368A>G (p.Tyr1123Cys) rs775177930 0.00001
NM_206933.4(USH2A):c.9920G>A (p.Cys3307Tyr) rs983763783 0.00001
NM_032119.4(ADGRV1):c.9208G>T (p.Asp3070Tyr) rs1580845586
NM_174878.3(CLRN1):c.128G>T (p.Gly43Val) rs933370216
NM_206933.2(USH2A):c.[12100G>A];[3367T>C]
NM_206933.4(USH2A):c.12712T>C (p.Tyr4238His) rs1571949388
NM_206933.4(USH2A):c.1985G>C (p.Cys662Ser) rs1487450999
NM_206933.4(USH2A):c.2810G>T (p.Gly937Val) rs1572074313
NM_206933.4(USH2A):c.851A>G (p.Glu284Gly) rs762869685

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.