ClinVar Miner

List of variants reported as uncertain significance for Usher syndrome type 1C by Counsyl

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 64
Download table as spreadsheet
HGVS dbSNP
NM_005709.3(USH1C):c.*13delG rs1554952757
NM_005709.3(USH1C):c.1013A>C (p.Glu338Ala) rs876658109
NM_005709.3(USH1C):c.1016G>A (p.Arg339Gln) rs765571023
NM_005709.3(USH1C):c.1069C>T (p.Arg357Trp) rs140934960
NM_005709.3(USH1C):c.1284+1116G>T rs1554959148
NM_005709.3(USH1C):c.1284+5351delG rs1554957912
NM_005709.3(USH1C):c.1284+5376T>G rs1406224812
NM_005709.3(USH1C):c.1284+5378G>T rs751388655
NM_005709.3(USH1C):c.1284+5443_1284+5448del6 rs1554957867
NM_005709.3(USH1C):c.1284+5449G>T rs148115969
NM_005709.3(USH1C):c.1284+5501T>C rs1344670523
NM_005709.3(USH1C):c.1284+6878_1284+6879insCTG rs769675063
NM_005709.3(USH1C):c.1284+6880delG rs745622612
NM_005709.3(USH1C):c.1284+6881_1284+6882ins14 rs781176348
NM_005709.3(USH1C):c.1284+7588C>T rs778703128
NM_005709.3(USH1C):c.1284+7686_1284+7692del7 rs758580540
NM_005709.3(USH1C):c.1285-3894G>T rs139116036
NM_005709.3(USH1C):c.1285-3942C>T rs369369849
NM_005709.3(USH1C):c.1285-7383_1285-7379del5 rs1554956821
NM_005709.3(USH1C):c.1285-7433_1285-7432delCA rs766725582
NM_005709.3(USH1C):c.1285-7515C>T rs727505187
NM_005709.3(USH1C):c.1285-7518C>A rs778700091
NM_005709.3(USH1C):c.1285-7565delG rs1389725640
NM_005709.3(USH1C):c.1285-7583delC rs765346539
NM_005709.3(USH1C):c.1285-7650_1285-7645del6 rs1175090344
NM_005709.3(USH1C):c.1291C>T (p.Arg431Trp) rs397517874
NM_005709.3(USH1C):c.1294A>G (p.Lys432Glu) rs148168494
NM_005709.3(USH1C):c.1340A>G (p.Gln447Arg) rs201600193
NM_005709.3(USH1C):c.1441G>A (p.Val481Ile) rs397517875
NM_005709.3(USH1C):c.1518C>A (p.Asn506Lys) rs397517876
NM_005709.3(USH1C):c.1531_1551del21 (p.Thr511_Glu517del) rs779253356
NM_005709.3(USH1C):c.1541C>A (p.Thr514Asn) rs397517877
NM_005709.3(USH1C):c.1558G>A (p.Ala520Thr) rs397517878
NM_005709.3(USH1C):c.1587C>T (p.Gly529=) rs142801489
NM_005709.3(USH1C):c.1590+1delG rs1366154374
NM_005709.3(USH1C):c.1646+1145G>A rs56165709
NM_005709.3(USH1C):c.1647-1G>A rs747133793
NM_005709.3(USH1C):c.1655_1657delTCT (p.Phe552del) rs1474458620
NM_005709.3(USH1C):c.241C>T (p.Arg81Cys) rs876658111
NM_005709.3(USH1C):c.245C>G (p.Ser82Cys) rs769021971
NM_005709.3(USH1C):c.266G>A (p.Arg89His) rs749647539
NM_005709.3(USH1C):c.311G>A (p.Gly104Asp) rs1317951509
NM_005709.3(USH1C):c.379G>A (p.Gly127Arg) rs768207716
NM_005709.3(USH1C):c.388-8T>A rs777486804
NM_005709.3(USH1C):c.497-4G>A rs397517881
NM_005709.3(USH1C):c.569C>T (p.Ser190Leu) rs200319849
NM_005709.3(USH1C):c.598G>A (p.Gly200Ser) rs770543827
NM_005709.3(USH1C):c.629A>C (p.Lys210Thr) rs372789934
NM_005709.3(USH1C):c.76C>T (p.Leu26Phe) rs267602805
NM_005709.3(USH1C):c.793G>A (p.Asp265Asn) rs199537187
NM_005709.3(USH1C):c.915_920del6 (p.Glu306_Ala307del) rs1554960929
NM_153676.3(USH1C):c.1210+5G>A rs372285784
NM_153676.3(USH1C):c.1552_1560dup (p.Pro520_Ser521insProProPro) rs777764626
NM_153676.3(USH1C):c.1559dup (p.Ser521Phefs) rs1554957167
NM_153676.3(USH1C):c.1712_1716dup (p.Pro573Thrfs) rs1554957020
NM_153676.3(USH1C):c.1806dup (p.Ile603Hisfs) rs765346539
NM_153676.3(USH1C):c.1807dup (p.Ile603Asnfs) rs1554956941
NM_153676.3(USH1C):c.187C>T (p.Arg63Trp) rs375741564
NM_153676.3(USH1C):c.188G>A (p.Arg63Gln) rs372497947
NM_153676.3(USH1C):c.2192G>A (p.Arg731Gln) rs371626423
NM_153676.3(USH1C):c.2528dup (p.Glu844Glyfs) rs1554953360
NM_153676.3(USH1C):c.2688_2695dup (p.Arg899Glnfs) rs1554952752
NM_153676.3(USH1C):c.308G>A (p.Arg103His) rs397514500
NM_153676.3(USH1C):c.440A>G (p.His147Arg) rs777591673

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.