ClinVar Miner

List of variants studied for Usher syndrome type 1C by Counsyl

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 110
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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.1020-2A>C rs147956944
NM_005709.3(USH1C):c.104+1G>A rs1287021691
NM_005709.3(USH1C):c.1069C>T (p.Arg357Trp) rs140934960
NM_005709.3(USH1C):c.1139delC (p.Ser380Terfs) rs1554960390
NM_005709.3(USH1C):c.1146dup (p.Gln383Thrfs) rs1554960388
NM_005709.3(USH1C):c.1220delG (p.Gly407Glufs) rs1207247951
NM_005709.3(USH1C):c.1284+1116G>T rs1554959148
NM_005709.3(USH1C):c.1284+1133C>T rs377439949
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+7552A>G rs397517872
NM_005709.3(USH1C):c.1284+7580G>A rs780428813
NM_005709.3(USH1C):c.1284+7588C>T rs778703128
NM_005709.3(USH1C):c.1284+7686_1284+7692del7 rs758580540
NM_005709.3(USH1C):c.1285-2A>G rs1358056232
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.1285-7549C>T rs1554956913
NM_005709.3(USH1C):c.1285-7549delC rs1554956916
NM_005709.3(USH1C):c.1285-7565delG rs1389725640
NM_005709.3(USH1C):c.1285-7567C>T rs727505247
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.1327-1G>T rs778110397
NM_005709.3(USH1C):c.1340A>G (p.Gln447Arg) rs201600193
NM_005709.3(USH1C):c.1380+2T>C rs1554954681
NM_005709.3(USH1C):c.1381-1G>A rs1554954574
NM_005709.3(USH1C):c.1381-2A>G rs921755529
NM_005709.3(USH1C):c.1441G>A (p.Val481Ile) rs397517875
NM_005709.3(USH1C):c.1481-2A>G rs1465352266
NM_005709.3(USH1C):c.1518C>A (p.Asn506Lys) rs397517876
NM_005709.3(USH1C):c.1518C>T (p.Asn506=) 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+1G>T rs1554953746
NM_005709.3(USH1C):c.1590+1delG rs1366154374
NM_005709.3(USH1C):c.1590+2T>C rs1554953745
NM_005709.3(USH1C):c.1646+1080G>T rs571304936
NM_005709.3(USH1C):c.1646+1124C>T rs767767573
NM_005709.3(USH1C):c.1646+1145G>A rs56165709
NM_005709.3(USH1C):c.1646+1151G>A rs201533059
NM_005709.3(USH1C):c.1646+1G>T rs1554953350
NM_005709.3(USH1C):c.1647-1181G>A rs727504552
NM_005709.3(USH1C):c.1647-1G>A rs747133793
NM_005709.3(USH1C):c.1655_1657delTCT (p.Phe552del) rs1474458620
NM_005709.3(USH1C):c.1A>G (p.Met1Val) rs1554965967
NM_005709.3(USH1C):c.216G>A (p.Val72=) rs151045328
NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) rs397515359
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.248+1G>A rs1482487617
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.496+1G>T rs138138689
NM_005709.3(USH1C):c.497-4G>A rs397517881
NM_005709.3(USH1C):c.569C>T (p.Ser190Leu) rs200319849
NM_005709.3(USH1C):c.579+1G>C rs1283092935
NM_005709.3(USH1C):c.582C>T (p.Gly194=) rs397517882
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.672C>A (p.Cys224Ter) rs1223763703
NM_005709.3(USH1C):c.674+1G>A rs775496999
NM_005709.3(USH1C):c.674+1delG rs1554961872
NM_005709.3(USH1C):c.674+2T>G rs1298596518
NM_005709.3(USH1C):c.748_759+5del17 rs1355262412
NM_005709.3(USH1C):c.760-1G>T rs1187887456
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.819+1G>A rs1554961152
NM_005709.3(USH1C):c.841_848delAGCCGCAG (p.Ser281Profs) rs1064797153
NM_005709.3(USH1C):c.877-1G>A rs771279169
NM_005709.3(USH1C):c.915_920del6 (p.Glu306_Ala307del) rs1554960929
NM_005709.3(USH1C):c.91C>T (p.Arg31Ter) rs121908370
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.2124T>C (p.Ser708=) rs369021714
NM_153676.3(USH1C):c.2192G>A (p.Arg731Gln) rs371626423
NM_153676.3(USH1C):c.2326dup (p.Ile776Asnfs) rs758555088
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
NM_153676.3(USH1C):c.463C>T (p.Arg155Ter) rs377145777
NM_153676.3(USH1C):c.496+1G>A rs138138689

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