ClinVar Miner

List of variants in gene USH2A reported as benign by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 56
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HGVS dbSNP
NM_206933.3(USH2A):c.10232A>C (p.Glu3411Ala) rs10864198
NM_206933.3(USH2A):c.10510C>G (p.Pro3504Ala) rs200372118
NM_206933.3(USH2A):c.10836C>A (p.Val3612=) rs61276761
NM_206933.3(USH2A):c.10858A>G (p.Ile3620Val) rs145207584
NM_206933.3(USH2A):c.11549-16dup rs34565443
NM_206933.3(USH2A):c.11549-5del rs34565443
NM_206933.3(USH2A):c.11602A>G (p.Met3868Val) rs35309576
NM_206933.3(USH2A):c.11677C>A (p.Pro3893Thr) rs41303285
NM_206933.3(USH2A):c.11928G>A (p.Thr3976=) rs55961436
NM_206933.3(USH2A):c.11946G>A (p.Leu3982=) rs2820718
NM_206933.3(USH2A):c.12046G>A (p.Val4016Met) rs138803855
NM_206933.3(USH2A):c.12445T>C (p.Trp4149Arg) rs115884084
NM_206933.3(USH2A):c.12608A>G (p.Gln4203Arg) rs148556640
NM_206933.3(USH2A):c.12612= (p.Thr4204=) rs2797235
NM_206933.3(USH2A):c.12666A>G (p.Thr4222=) rs2797234
NM_206933.3(USH2A):c.13191G>A (p.Glu4397=) rs2009923
NM_206933.3(USH2A):c.13297G>T (p.Val4433Leu) rs111033381
NM_206933.3(USH2A):c.13440G>A (p.Arg4480=) rs111033378
NM_206933.3(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044
NM_206933.3(USH2A):c.1434G>C (p.Glu478Asp) rs35730265
NM_206933.3(USH2A):c.14481C>T (p.Ala4827=) rs41304083
NM_206933.3(USH2A):c.14513G>A (p.Gly4838Glu) rs41315587
NM_206933.3(USH2A):c.14543G>A (p.Arg4848Gln) rs77211159
NM_206933.3(USH2A):c.14960C>T (p.Ala4987Val) rs111033498
NM_206933.3(USH2A):c.15076A>G (p.Lys5026Glu) rs41308435
NM_206933.3(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610
NM_206933.3(USH2A):c.15297+3A>G rs57754754
NM_206933.3(USH2A):c.15377T>C (p.Ile5126Thr) rs111033266
NM_206933.3(USH2A):c.15427C>T (p.Arg5143Cys) rs145771342
NM_206933.3(USH2A):c.15428G>A (p.Arg5143His) rs111033435
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.2137G>C (p.Gly713Arg) rs696723
NM_206933.3(USH2A):c.2510G>A (p.Arg837Gln) rs148594393
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.3(USH2A):c.2546G>A (p.Cys849Tyr) rs111033481
NM_206933.3(USH2A):c.3621C>T (p.Ile1207=) rs146462407
NM_206933.3(USH2A):c.373G>A (p.Ala125Thr) rs10779261
NM_206933.3(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333
NM_206933.3(USH2A):c.6236A>C (p.Lys2079Thr) rs147039836
NM_206933.3(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911
NM_206933.3(USH2A):c.6257C>A (p.Thr2086Asn) rs149202379
NM_206933.3(USH2A):c.6270A>G (p.Leu2090=) rs56245532
NM_206933.3(USH2A):c.6317= (p.Thr2106=) rs6657250
NM_206933.3(USH2A):c.6506T>C (p.Ile2169Thr) rs10864219
NM_206933.3(USH2A):c.6510T>G (p.Ser2170Arg) rs373604102
NM_206933.3(USH2A):c.6587G>C (p.Ser2196Thr) rs79444516
NM_206933.3(USH2A):c.6713A>C (p.Glu2238Ala) rs41277212
NM_206933.3(USH2A):c.688G>A (p.Val230Met) rs45500891
NM_206933.3(USH2A):c.7130A>G (p.Asn2377Ser) rs111033394
NM_206933.3(USH2A):c.7506G>A (p.Pro2502=) rs12404427
NM_206933.3(USH2A):c.7685T>C (p.Val2562Ala) rs56385601
NM_206933.3(USH2A):c.8656C>T (p.Leu2886Phe) rs41277200
NM_206933.3(USH2A):c.8937A>G (p.Val2979=) rs139100097
NM_206933.3(USH2A):c.9262G>A (p.Glu3088Lys) rs56056328
NM_206933.3(USH2A):c.9296A>G (p.Asn3099Ser) rs41277194

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