ClinVar Miner

List of variants in gene USH2A reported as likely benign for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 105
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HGVS dbSNP
NM_007123.5(USH2A):c.1935A>T (p.Thr645=) rs146670690
NM_007123.5(USH2A):c.3158-47_3158-17del rs1553315049
NM_007123.5(USH2A):c.4252-36CTTT[5] rs372388546
NM_206933.3(USH2A):c.1011T>C (p.Pro337=) rs146950070
NM_206933.3(USH2A):c.10341C>T (p.Ala3447=) rs372015149
NM_206933.3(USH2A):c.10950A>G (p.Pro3650=) rs372690499
NM_206933.3(USH2A):c.11466C>T (p.Ser3822=) rs144655434
NM_206933.3(USH2A):c.1158C>A (p.Ile386=) rs1037072307
NM_206933.3(USH2A):c.12369T>C (p.Asp4123=) rs779194517
NM_206933.3(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803
NM_206933.3(USH2A):c.12876T>C (p.Asn4292=) rs762246558
NM_206933.3(USH2A):c.12918C>T (p.Leu4306=) rs192709780
NM_206933.3(USH2A):c.14276G>A (p.Gly4759Glu) rs112459877
NM_206933.3(USH2A):c.14625C>T (p.Ala4875=) rs773859845
NM_206933.3(USH2A):c.14838G>T (p.Val4946=) rs949583594
NM_206933.3(USH2A):c.14892C>T (p.Tyr4964=) rs149877542
NM_206933.3(USH2A):c.15298-1176A>G rs144467375
NM_206933.3(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
NM_206933.3(USH2A):c.15494C>G (p.Ala5165Gly) rs146892520
NM_206933.3(USH2A):c.2460T>C (p.Asn820=) rs781373128
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.3(USH2A):c.3666G>A (p.Ala1222=) rs764479854
NM_206933.3(USH2A):c.5577C>T (p.Phe1859=) rs764839361
NM_206933.3(USH2A):c.5802G>A (p.Ser1934=) rs149776188
NM_206933.3(USH2A):c.6096A>G (p.Leu2032=) rs376669318
NM_206933.3(USH2A):c.705A>G (p.Thr235=) rs767897482
NM_206933.3(USH2A):c.7167C>T (p.Ser2389=) rs200243588
NM_206933.3(USH2A):c.732T>C (p.Gly244=) rs576466805
NM_206933.3(USH2A):c.7476G>A (p.Ser2492=) rs777803742
NM_206933.3(USH2A):c.8028G>A (p.Pro2676=) rs766443785
NM_206933.3(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533
NM_206933.3(USH2A):c.8760G>A (p.Thr2920=) rs200525258
NM_206933.3(USH2A):c.9008T>C (p.Val3003Ala) rs138574386
NM_206933.4(USH2A):c.10344A>G (p.Glu3448=) rs760725818
NM_206933.4(USH2A):c.10524C>A (p.Thr3508=) rs397517967
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu) rs115403785
NM_206933.4(USH2A):c.1143+12C>T rs727505167
NM_206933.4(USH2A):c.11597C>T (p.Ala3866Val) rs138326802
NM_206933.4(USH2A):c.12557T>C (p.Ile4186Thr) rs112120466
NM_206933.4(USH2A):c.13478G>A (p.Arg4493His) rs138879998
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His) rs730254
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044
NM_206933.4(USH2A):c.14184C>T (p.Cys4728=) rs200934092
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) rs35730265
NM_206933.4(USH2A):c.14511C>T (p.Ile4837=) rs139847770
NM_206933.4(USH2A):c.14512G>A rs533097255
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met) rs56136489
NM_206933.4(USH2A):c.14817G>A (p.Ser4939=) rs397517992
NM_206933.4(USH2A):c.14928C>G (p.Gly4976=) rs397517995
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610
NM_206933.4(USH2A):c.15105A>C (p.Thr5035=) rs762610249
NM_206933.4(USH2A):c.15144G>A (p.Ala5048=) rs397517998
NM_206933.4(USH2A):c.1530C>T (p.Asp510=) rs200940197
NM_206933.4(USH2A):c.1550+10T>C rs200728788
NM_206933.4(USH2A):c.1608C>T (p.Cys536=) rs187380128
NM_206933.4(USH2A):c.1623G>A (p.Glu541=) rs146805130
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432
NM_206933.4(USH2A):c.1722T>G (p.Pro574=) rs397518002
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138
NM_206933.4(USH2A):c.2001C>T (p.His667=) rs142870255
NM_206933.4(USH2A):c.2052A>G (p.Gln684=) rs111033248
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.2775T>C (p.Asn925=) rs779331611
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.3648C>T (p.Tyr1216=) rs147947402
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) rs148000219
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333
NM_206933.4(USH2A):c.4758+3A>G rs117798425
NM_206933.4(USH2A):c.478G>A (p.Gly160Ser) rs111033479
NM_206933.4(USH2A):c.486-15C>T rs114194722
NM_206933.4(USH2A):c.4983T>C (p.Asp1661=) rs111033532
NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser) rs140080678
NM_206933.4(USH2A):c.5409C>G (p.Val1803=) rs140326085
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln) rs111033409
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp) rs140895792
NM_206933.4(USH2A):c.5844T>C (p.Arg1948=) rs147930567
NM_206933.4(USH2A):c.5919G>A (p.Val1973=)
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser) rs75698489
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287
NM_206933.4(USH2A):c.6087A>T (p.Ala2029=) rs727503726
NM_206933.4(USH2A):c.6141G>A (p.Leu2047=) rs727505165
NM_206933.4(USH2A):c.6257C>A (p.Thr2086Asn) rs149202379
NM_206933.4(USH2A):c.6325+7390C>T rs207461108
NM_206933.4(USH2A):c.6486G>A (p.Gln2162=) rs397518025
NM_206933.4(USH2A):c.6513G>C (p.Gly2171=) rs876657629
NM_206933.4(USH2A):c.6806-9473C>A rs207461105
NM_206933.4(USH2A):c.6969A>C (p.Arg2323=) rs397518028
NM_206933.4(USH2A):c.7038C>T (p.His2346=) rs145718407
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys) rs200038092
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser) rs111033394
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579
NM_206933.4(USH2A):c.7965G>A rs571110005
NM_206933.4(USH2A):c.8265T>C (p.Leu2755=) rs727505274
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile) rs143240767
NM_206933.4(USH2A):c.8357T>C (p.Phe2786Ser) rs111033262
NM_206933.4(USH2A):c.8499T>C (p.Ser2833=) rs753719500
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His) rs533700989
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys) rs56056328
NM_206933.4(USH2A):c.9342A>G (p.Pro3114=) rs181961185
NM_206933.4(USH2A):c.9611A>G rs745539518
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr) rs528342000

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