ClinVar Miner

List of variants studied for Usher syndrome type 1 by Mendelics

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln) rs782396605
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) rs373147966
NM_001142771.2(PCDH15):c.4982A>C (p.Gln1661Pro) rs17704703
NM_033056.4(PCDH15):c.1138G>A (p.Gly380Ser) rs10825269
NM_033056.4(PCDH15):c.1304A>C (p.Asp435Ala) rs4935502
NM_033056.4(PCDH15):c.1863T>G (p.Tyr621Ter) rs1590691343
NM_033056.4(PCDH15):c.2645_2646del (p.Asp881_Tyr882insTer) rs1589950125
NM_033056.4(PCDH15):c.2884C>T (p.Arg962Cys) rs201816080
NM_153676.4(USH1C):c.2457G>C (p.Glu819Asp) rs1064074

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.