ClinVar Miner

List of variants reported as benign for Usher syndrome type 2

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 130
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HGVS dbSNP
NM_007123.5(USH2A):c.*1024T>C rs439940
NM_007123.5(USH2A):c.*1128G>T rs401269
NM_007123.5(USH2A):c.*131T>G rs55761862
NM_007123.5(USH2A):c.*685C>A rs59704861
NM_015404.4(WHRN):c.*438T>G
NM_015404.4(WHRN):c.-204C>G
NM_015404.4(WHRN):c.-257C>G rs73555447
NM_015404.4(WHRN):c.-295C>G rs7861589
NM_015404.4(WHRN):c.-314C>T
NM_015404.4(WHRN):c.-391C>A rs4527950
NM_015404.4(WHRN):c.-510G>A rs10759714
NM_015404.4(WHRN):c.-91C>T rs2297814
NM_015404.4(WHRN):c.117G>A (p.Val39=) rs2297815
NM_015404.4(WHRN):c.1318G>A (p.Ala440Thr) rs4978584
NM_015404.4(WHRN):c.1352G>A (p.Gly451Asp) rs117352600
NM_015404.4(WHRN):c.1353T>C (p.Gly451=) rs4979387
NM_015404.4(WHRN):c.1515G>A (p.Ala505=) rs34252199
NM_015404.4(WHRN):c.1627-12G>A rs2274160
NM_015404.4(WHRN):c.1684C>G (p.Pro562Ala) rs12339210
NM_015404.4(WHRN):c.1838T>C (p.Met613Thr) rs942519
NM_015404.4(WHRN):c.2283C>T (p.Ser761=) rs34963246
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser) rs56204273
NM_015404.4(WHRN):c.2348T>C (p.Val783Ala) rs2274159
NM_015404.4(WHRN):c.2388C>A (p.Asn796Lys) rs2274158
NM_015404.4(WHRN):c.2586C>A (p.His862Gln) rs117592152
NM_032119.4(ADGRV1):c.*60A>G
NM_032119.4(ADGRV1):c.-47G>C rs116110048
NM_032119.4(ADGRV1):c.-98G>A rs7706355
NM_032119.4(ADGRV1):c.10039T>C (p.Phe3347Leu) rs10067636
NM_032119.4(ADGRV1):c.10411G>A (p.Glu3471Lys) rs2366928
NM_032119.4(ADGRV1):c.10872A>G (p.Gln3624=) rs17624033
NM_032119.4(ADGRV1):c.11472G>A (p.Leu3824=) rs74327115
NM_032119.4(ADGRV1):c.11481T>C (p.Asp3827=) rs16869083
NM_032119.4(ADGRV1):c.11599G>A (p.Glu3867Lys) rs10062026
NM_032119.4(ADGRV1):c.11682C>T (p.Pro3894=) rs2438349
NM_032119.4(ADGRV1):c.12592G>A (p.Val4198Met) rs2460169
NM_032119.4(ADGRV1):c.12927G>A (p.Ala4309=) rs35092519
NM_032119.4(ADGRV1):c.13599A>G (p.Thr4533=) rs17554631
NM_032119.4(ADGRV1):c.14029T>C (p.Phe4677Leu) rs62000408
NM_032119.4(ADGRV1):c.14319A>G (p.Ile4773Met)
NM_032119.4(ADGRV1):c.14654A>G (p.Asn4885Ser) rs61731030
NM_032119.4(ADGRV1):c.14905T>C (p.Trp4969Arg) rs7729495
NM_032119.4(ADGRV1):c.16031A>G (p.Glu5344Gly) rs2438374
NM_032119.4(ADGRV1):c.16164A>G (p.Arg5388=) rs41304884
NM_032119.4(ADGRV1):c.16248C>T (p.Val5416=) rs3763073
NM_032119.4(ADGRV1):c.16279G>A (p.Val5427Met) rs2438378
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His) rs371947306
NM_032119.4(ADGRV1):c.1652T>C (p.Val551Ala) rs6889939
NM_032119.4(ADGRV1):c.16949C>G (p.Thr5650Ser) rs61748627
NM_032119.4(ADGRV1):c.17626G>A (p.Val5876Ile) rs2247870
NM_032119.4(ADGRV1):c.1797A>T (p.Arg599Ser) rs200058876
NM_032119.4(ADGRV1):c.18475A>G (p.Met6159Val) rs77469944
NM_032119.4(ADGRV1):c.18625-7T>C rs7726023
NM_032119.4(ADGRV1):c.18741G>A (p.Gly6247=) rs13158963
NM_032119.4(ADGRV1):c.2001T>C (p.Asp667=) rs9293547
NM_032119.4(ADGRV1):c.2367+8C>T rs2366773
NM_032119.4(ADGRV1):c.2735-10C>A rs78625945
NM_032119.4(ADGRV1):c.3141A>G (p.Ala1047=) rs950692
NM_032119.4(ADGRV1):c.3279G>T (p.Leu1093Phe) rs2366777
NM_032119.4(ADGRV1):c.327C>T (p.Asp109=) rs61753944
NM_032119.4(ADGRV1):c.380T>G (p.Leu127Arg) rs41311333
NM_032119.4(ADGRV1):c.4506C>T (p.Pro1502=) rs17543819
NM_032119.4(ADGRV1):c.5346A>G (p.Gly1782=) rs10067298
NM_032119.4(ADGRV1):c.5747C>T (p.Thr1916Ile) rs35791889
NM_032119.4(ADGRV1):c.5780C>T (p.Thr1927Met) rs17544552
NM_032119.4(ADGRV1):c.581C>A (p.Pro194His) rs61745498
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn) rs41302834
NM_032119.4(ADGRV1):c.5851G>A (p.Val1951Ile) rs4916684
NM_032119.4(ADGRV1):c.5953A>G (p.Asn1985Asp) rs41303352
NM_032119.4(ADGRV1):c.5960C>T (p.Pro1987Leu) rs4916685
NM_032119.4(ADGRV1):c.6012G>T (p.Leu2004Phe) rs16868972
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg) rs41308846
NM_032119.4(ADGRV1):c.6289C>T (p.Arg2097Cys) rs16868974
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val) rs200512504
NM_032119.4(ADGRV1):c.6695A>G (p.Tyr2232Cys) rs10037067
NM_032119.4(ADGRV1):c.6952-10G>A rs10040165
NM_032119.4(ADGRV1):c.7034A>G (p.Asn2345Ser) rs2366926
NM_032119.4(ADGRV1):c.7206G>A (p.Glu2402=) rs16876822
NM_032119.4(ADGRV1):c.7229A>G (p.Tyr2410Cys) rs111033430
NM_032119.4(ADGRV1):c.7293C>T (p.Ala2431=) rs77791584
NM_032119.4(ADGRV1):c.7576A>G (p.Ile2526Val) rs75191159
NM_032119.4(ADGRV1):c.7751A>G (p.Asn2584Ser) rs1878878
NM_032119.4(ADGRV1):c.7813T>G (p.Leu2605Val) rs79915053
NM_032119.4(ADGRV1):c.7945+6C>T rs139278305
NM_032119.4(ADGRV1):c.8291C>T (p.Ser2764Leu) rs16869016
NM_032119.4(ADGRV1):c.8538T>G (p.Leu2846=) rs6880570
NM_032119.4(ADGRV1):c.8876G>A (p.Arg2959Gln) rs73175207
NM_032119.4(ADGRV1):c.9280G>A (p.Val3094Ile) rs13157270
NM_032119.4(ADGRV1):c.9366A>G (p.Thr3122=) rs200412477
NM_032119.4(ADGRV1):c.9743G>A (p.Gly3248Asp) rs16869032
NM_032119.4(ADGRV1):c.9771C>T (p.Ser3257=) rs16869039
NM_032119.4(ADGRV1):c.9927T>G (p.Pro3309=) rs16869042
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.3(USH2A):c.10246T>G (p.Cys3416Gly) rs527236140
NM_206933.3(USH2A):c.15562A>G (p.Ser5188Gly) rs58257972
NM_206933.3(USH2A):c.6317= (p.Thr2106=) rs6657250
NM_206933.4(USH2A):c.10232A>C (p.Glu3411Ala) rs10864198
NM_206933.4(USH2A):c.10510C>G (p.Pro3504Ala) rs200372118
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile) rs11120616
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met) rs142381713
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys) rs111033275
NM_206933.4(USH2A):c.1419C>T (p.Thr473=) rs1805050
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) rs35730265
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys) rs145771342
NM_206933.4(USH2A):c.1731C>T (p.Cys577=) rs41313732
NM_206933.4(USH2A):c.1931A>T (p.Asp644Val) rs1805048
NM_206933.4(USH2A):c.2052A>G (p.Gln684=) rs111033248
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr) rs111033481
NM_206933.4(USH2A):c.2633G>A (p.Arg878His) rs200124505
NM_206933.4(USH2A):c.3364T>G (p.Ser1122Ala) rs148135241
NM_206933.4(USH2A):c.373G>A (p.Ala125Thr) rs10779261
NM_206933.4(USH2A):c.3812-8T>G rs646094
NM_206933.4(USH2A):c.3945T>C (p.Asn1315=) rs41303257
NM_206933.4(USH2A):c.4371G>A (p.Ser1457=) rs56013136
NM_206933.4(USH2A):c.4440C>T (p.Ser1480=) rs111632670
NM_206933.4(USH2A):c.4627+32G>T
NM_206933.4(USH2A):c.4627+48A>T
NM_206933.4(USH2A):c.4627+641G>A
NM_206933.4(USH2A):c.486-13G>A rs116367260
NM_206933.4(USH2A):c.504A>G (p.Thr168=) rs4253963
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln) rs111033409
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser) rs141609561
NM_206933.4(USH2A):c.573A>G (p.Val191=) rs73102592
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911
NM_206933.4(USH2A):c.6506T>C (p.Ile2169Thr) rs10864219
NM_206933.4(USH2A):c.7451+3G>A rs397518030
NM_206933.4(USH2A):c.78T>C (p.Ala26=) rs59139861
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile) rs143240767
NM_206933.4(USH2A):c.848+5G>C rs74329863

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