ClinVar Miner

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

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 165
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HGVS dbSNP
NM_000260.3(MYO7A):c.*546C>T rs115812166
NM_000260.3(MYO7A):c.*560C>T rs35776264
NM_000260.4(MYO7A):c.*392A>G
NM_000260.4(MYO7A):c.*442T>C rs115238711
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132
NM_000260.4(MYO7A):c.133-14C>T rs116228809
NM_000260.4(MYO7A):c.133-7C>T rs111033221
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile) rs35641839
NM_000260.4(MYO7A):c.2447G>A (p.Arg816His) rs148343670
NM_000260.4(MYO7A):c.3042G>T (p.Thr1014=) rs111033507
NM_000260.4(MYO7A):c.3246G>A (p.Thr1082=) rs35963362
NM_000260.4(MYO7A):c.324C>T (p.Tyr108=) rs116892396
NM_000260.4(MYO7A):c.397C>A (p.His133Asn) rs111033403
NM_000260.4(MYO7A):c.4023C>T (p.Pro1341=) rs73495790
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=) rs78996818
NM_000260.4(MYO7A):c.4568+12C>G rs72933642
NM_000260.4(MYO7A):c.4620G>A (p.Ala1540=) rs41298745
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met) rs41298747
NM_000260.4(MYO7A):c.4698G>A (p.Thr1566=) rs200207753
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410
NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=) rs111033477
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp) rs111033287
NM_000260.4(MYO7A):c.5481-14G>A rs113075052
NM_000260.4(MYO7A):c.5598C>A (p.Leu1866=) rs111033504
NM_000260.4(MYO7A):c.5598C>T (p.Leu1866=) rs111033504
NM_000260.4(MYO7A):c.5619G>A (p.Arg1873=) rs45450893
NM_000260.4(MYO7A):c.5835C>T (p.Leu1945=) rs111033476
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=) rs111033230
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135
NM_000260.4(MYO7A):c.93C>T (p.Cys31=) rs35689081
NM_002109.6(HARS1):c.1458+7G>A rs58302597
NM_002109.6(HARS1):c.588C>T (p.Cys196=) rs2230361
NM_002778.4(PSAP):c.*891G>A rs7869
NM_002778.4(PSAP):c.1350+5G>A rs11000016
NM_007123.5(USH2A):c.4252-36CTTT[5] rs372388546
NM_015404.4(WHRN):c.-608_-601del rs150944893
NM_015404.4(WHRN):c.2046G>C (p.Arg682=) rs35258467
NM_015404.4(WHRN):c.2439G>A (p.Thr813=) rs61743618
NM_015404.4(WHRN):c.667C>T (p.Arg223Cys) rs76593842
NM_015404.4(WHRN):c.668G>A (p.Arg223His) rs146273185
NM_015404.4(WHRN):c.933A>C (p.Pro311=) rs569159249
NM_022124.6(CDH23):c.*204A>G rs2290022
NM_022124.6(CDH23):c.*349A>G rs1867978
NM_022124.6(CDH23):c.*361C>A rs115033851
NM_022124.6(CDH23):c.*510G>A rs1054635
NM_022124.6(CDH23):c.*515C>A rs16929375
NM_022124.6(CDH23):c.-45_-41AGGCG[2] rs71012280
NM_022124.6(CDH23):c.-45_-41AGGCG[4] rs71012280
NM_022124.6(CDH23):c.1078C>T (p.Leu360=) rs185917383
NM_022124.6(CDH23):c.1089C>T (p.Val363=) rs556135873
NM_022124.6(CDH23):c.198G>A (p.Val66=) rs111033288
NM_022124.6(CDH23):c.2337G>A (p.Lys779=) rs111033461
NM_022124.6(CDH23):c.2954-14G>A rs191534381
NM_022124.6(CDH23):c.2970C>T (p.Asp990=) rs56216952
NM_022124.6(CDH23):c.3249G>A (p.Thr1083=) rs79805606
NM_022124.6(CDH23):c.3364T>G (p.Leu1122Val) rs77821631
NM_022124.6(CDH23):c.3480G>T (p.Met1160Ile) rs111033519
NM_022124.6(CDH23):c.3999G>A (p.Val1333=) rs111033453
NM_022124.6(CDH23):c.4068C>G (p.Thr1356=) rs143136329
NM_022124.6(CDH23):c.4589C>T (p.Pro1530Leu) rs554938323
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp)
NM_022124.6(CDH23):c.4875G>A (p.Val1625=) rs149664909
NM_022124.6(CDH23):c.5026G>A (p.Ala1676Thr) rs56043301
NM_022124.6(CDH23):c.5297T>C (p.Phe1766Ser) rs114745089
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) rs74145660
NM_022124.6(CDH23):c.5722G>A (p.Val1908Ile) rs368828743
NM_022124.6(CDH23):c.5821-13C>T rs117317626
NM_022124.6(CDH23):c.6687C>T (p.Asp2229=) rs76463072
NM_022124.6(CDH23):c.6990G>T (p.Leu2330=) rs111033495
NM_022124.6(CDH23):c.7630T>C (p.Leu2544=) rs114819374
NM_022124.6(CDH23):c.7762G>C (p.Glu2588Gln) rs41281338
NM_022124.6(CDH23):c.8022G>A (p.Gln2674=) rs201733315
NM_022124.6(CDH23):c.8401T>G (p.Phe2801Val) rs3802707
NM_022124.6(CDH23):c.8859C>T (p.Asp2953=) rs11000008
NM_022124.6(CDH23):c.8980-14C>A rs45522532
NM_022124.6(CDH23):c.9077+7C>T rs76114420
NM_022124.6(CDH23):c.9319+11G>A rs11000013
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021
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
NM_033056.4(PCDH15):c.1590+15A>G rs565203752
NM_033056.4(PCDH15):c.1702G>A (p.Ala568Thr) rs61730754
NM_033056.4(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363
NM_033056.4(PCDH15):c.2884C>T (p.Arg962Cys) rs201816080
NM_033056.4(PCDH15):c.3018G>T (p.Val1006=) rs41307518
NM_033056.4(PCDH15):c.3451G>A (p.Gly1151Arg) rs149478475
NM_033056.4(PCDH15):c.3532G>A (p.Val1178Ile) rs147835286
NM_033056.4(PCDH15):c.3983+12T>C rs149867749
NM_033056.4(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387
NM_033056.4(PCDH15):c.4334C>G (p.Ala1445Gly) rs146745502
NM_033056.4(PCDH15):c.475-3C>T rs41304641
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser) rs148718874
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) rs111033362
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463
NM_033056.4(PCDH15):c.546A>G (p.Gly182=) rs34164469
NM_033056.4(PCDH15):c.5550C>A (p.Thr1850=) rs112097891
NM_033056.4(PCDH15):c.5557A>C (p.Met1853Leu) rs145903555
NM_052995.2(CLRN1):c.*107T>C
NM_052995.2(CLRN1):c.*246T>C rs374292166
NM_052995.2(CLRN1):c.342+406G>A rs200685524
NM_052995.2(CLRN1):c.343-37T>G
NM_153676.4(USH1C):c.*131G>C
NM_153676.4(USH1C):c.*405C>G rs11827649
NM_153676.4(USH1C):c.*42C>T rs16934270
NM_153676.4(USH1C):c.101A>G (p.His34Arg) rs75157409
NM_153676.4(USH1C):c.1211-1129G>A rs35188020
NM_153676.4(USH1C):c.2499C>T (p.Ile833=) rs34581703
NM_153676.4(USH1C):c.648G>A (p.Leu216=) rs77137413
NM_153676.4(USH1C):c.819+10G>C rs41282936
NM_173477.5(USH1G):c.*1053G>A rs113583471
NM_173477.5(USH1G):c.*1093= rs690566
NM_173477.5(USH1G):c.*1098T>A
NM_173477.5(USH1G):c.*1168_*1169TG[6] rs746904393
NM_173477.5(USH1G):c.*1224A>C rs111922548
NM_173477.5(USH1G):c.*1303C>T rs1013013
NM_173477.5(USH1G):c.*1656T>C rs8067775
NM_173477.5(USH1G):c.*1821C>G
NM_173477.5(USH1G):c.*1990A>G rs113905467
NM_173477.5(USH1G):c.*553A>C rs111899313
NM_173477.5(USH1G):c.*571T>A rs111611253
NM_173477.5(USH1G):c.*776G>A
NM_206933.3(USH2A):c.1935A>T (p.Thr645=)
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.4(USH2A):c.1608C>T (p.Cys536=) rs187380128
NM_206933.4(USH2A):c.2109T>C (p.Asp703=) rs45555435
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723
NM_206933.4(USH2A):c.2256T>C (p.His752=) rs111033281
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr) rs111033481
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp) rs34596189
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala) rs372081834
NM_206933.4(USH2A):c.478G>A (p.Gly160Ser) rs111033479

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