ClinVar Miner

List of variants reported as benign for Usher syndrome type 2A by Mendelics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.6317T>C (p.Ile2106Thr) rs6657250 0.67783
NM_206933.4(USH2A):c.10232A>C (p.Glu3411Ala) rs10864198 0.58403
NM_206933.4(USH2A):c.6506T>C (p.Ile2169Thr) rs10864219 0.50009
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile) rs11120616 0.19146
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911 0.00770
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr) rs111033481 0.00424
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly) rs58257972 0.00343
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser) rs141609561 0.00107
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys) rs111033275 0.00056
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys) rs145771342 0.00050
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met) rs142381713 0.00049
NM_206933.4(USH2A):c.2052A>G (p.Gln684=) rs111033248 0.00048
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln) rs111033409 0.00034
NM_206933.4(USH2A):c.10510C>G (p.Pro3504Ala) rs200372118 0.00020
NM_206933.4(USH2A):c.2633G>A (p.Arg878His) rs200124505 0.00011
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile) rs143240767 0.00011
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524 0.00008
NM_206933.4(USH2A):c.7451+3G>A rs397518030 0.00003
NM_206933.4(USH2A):c.10246T>G (p.Cys3416Gly) rs527236140

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.