ClinVar Miner

List of variants in gene USH2A reported as benign for Usher syndrome

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 46
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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_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.3(USH2A):c.10246T>G (p.Cys3416Gly) rs527236140
NM_206933.3(USH2A):c.15297+3A>G rs57754754
NM_206933.3(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
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.12575G>A (p.Arg4192His) rs199605265
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.7334C>T (p.Ser2445Phe) rs41315579
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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