ClinVar Miner

List of variants reported as likely benign for Usher syndrome, type 2C by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
Download table as spreadsheet
HGVS dbSNP
NM_032119.4(ADGRV1):c.-67A>T
NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr) rs41311343
NM_032119.4(ADGRV1):c.10769+9A>G rs116184119
NM_032119.4(ADGRV1):c.11031C>T (p.Asn3677=) rs75480336
NM_032119.4(ADGRV1):c.13590C>T (p.Pro4530=) rs41311745
NM_032119.4(ADGRV1):c.13654-5C>T rs367554300
NM_032119.4(ADGRV1):c.14515C>G (p.Gln4839Glu) rs79464236
NM_032119.4(ADGRV1):c.18273A>G (p.Ala6091=) rs137853918
NM_032119.4(ADGRV1):c.1839+7G>A rs142011700
NM_032119.4(ADGRV1):c.18470A>G (p.Asn6157Ser) rs200111522
NM_032119.4(ADGRV1):c.18803-13A>G rs41305902
NM_032119.4(ADGRV1):c.18803-4G>T rs80335659
NM_032119.4(ADGRV1):c.2241-10A>T rs150996234
NM_032119.4(ADGRV1):c.2553+11T>A rs73181640
NM_032119.4(ADGRV1):c.3303A>G (p.Val1101=) rs80069610
NM_032119.4(ADGRV1):c.3482C>G (p.Ser1161Cys) rs147062294
NM_032119.4(ADGRV1):c.3559A>G (p.Ile1187Val) rs16868935
NM_032119.4(ADGRV1):c.3956G>A (p.Arg1319Gln) rs73181648
NM_032119.4(ADGRV1):c.4254T>C (p.Tyr1418=) rs149459739
NM_032119.4(ADGRV1):c.4260A>G (p.Glu1420=) rs61740119
NM_032119.4(ADGRV1):c.5304G>A (p.Glu1768=) rs41303346
NM_032119.4(ADGRV1):c.5525-7C>T rs137853919
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn) rs41302834
NM_032119.4(ADGRV1):c.6187T>C (p.Leu2063=) rs75019370
NM_032119.4(ADGRV1):c.6318G>A (p.Ala2106=) rs190981860
NM_032119.4(ADGRV1):c.6383G>A (p.Arg2128Gln) rs149390094
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val) rs200512504
NM_032119.4(ADGRV1):c.6608T>C (p.Val2203Ala) rs200055351
NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His) rs111033470
NM_032119.4(ADGRV1):c.7179C>T (p.Asp2393=) rs111033429
NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser) rs201733037
NM_032119.4(ADGRV1):c.8407G>A (p.Ala2803Thr) rs111033530
NM_032119.4(ADGRV1):c.9607T>A (p.Ser3203Thr) rs116480183
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) rs114137750

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.