ClinVar Miner

List of variants in gene USH2A reported as pathogenic by GeneDx

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Gene type:
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Total variants: 57
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HGVS dbSNP
NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_007123.5(USH2A):c.4125del (p.Tyr1376fs) rs1064793506
NM_007123.5(USH2A):c.545_546del (p.Lys182fs) rs780779563
NM_206933.3(USH2A):c.10684G>T (p.Glu3562Ter) rs749702843
NM_206933.3(USH2A):c.11065C>T (p.Arg3689Ter) rs41314534
NM_206933.3(USH2A):c.1111_1112del (p.Ile371fs) rs1366496013
NM_206933.3(USH2A):c.11156G>A (p.Arg3719His) rs527236139
NM_206933.3(USH2A):c.12093C>A (p.Tyr4031Ter) rs55921307
NM_206933.3(USH2A):c.12152_12153insTT (p.Glu4051fs) rs1064793289
NM_206933.3(USH2A):c.1227G>A (p.Trp409Ter) rs397517979
NM_206933.3(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156
NM_206933.3(USH2A):c.12691C>T (p.Gln4231Ter) rs1057517844
NM_206933.3(USH2A):c.13374del (p.Glu4458fs) rs727503715
NM_206933.3(USH2A):c.13576C>T (p.Arg4526Ter) rs1003869920
NM_206933.3(USH2A):c.15089C>A (p.Ser5030Ter) rs758660532
NM_206933.3(USH2A):c.15200del (p.Ile5067fs) rs1295968274
NM_206933.3(USH2A):c.1679del (p.Pro560fs) rs773539640
NM_206933.3(USH2A):c.2293C>T (p.Gln765Ter) rs777629750
NM_206933.3(USH2A):c.2304C>A (p.Cys768Ter) rs886039449
NM_206933.3(USH2A):c.3187_3188del (p.Gln1063fs) rs886039450
NM_206933.3(USH2A):c.3507G>A (p.Trp1169Ter) rs1064793745
NM_206933.3(USH2A):c.4222C>T (p.Gln1408Ter) rs746551311
NM_206933.3(USH2A):c.486-14G>A rs374536346
NM_206933.3(USH2A):c.4957C>T (p.Arg1653Ter) rs754768875
NM_206933.3(USH2A):c.5776+2T>C rs866978361
NM_206933.3(USH2A):c.5836C>T (p.Arg1946Ter) rs751130485
NM_206933.3(USH2A):c.6862G>T (p.Glu2288Ter) rs398124619
NM_206933.3(USH2A):c.7475C>A (p.Ser2492Ter) rs483353056
NM_206933.3(USH2A):c.7950dup (p.Asn2651fs) rs886041502
NM_206933.3(USH2A):c.7999G>T (p.Glu2667Ter) rs1301139848
NM_206933.3(USH2A):c.8167C>T (p.Arg2723Ter) rs200712760
NM_206933.3(USH2A):c.828C>G (p.Tyr276Ter) rs1553250952
NM_206933.3(USH2A):c.8546G>T (p.Gly2849Val) rs1064794034
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter) rs111033418
NM_206933.4(USH2A):c.11216_11223del (p.Leu3739fs) rs1571657777
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs) rs779791079
NM_206933.4(USH2A):c.12067-2A>G rs397517978
NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs) rs398124618
NM_206933.4(USH2A):c.12295-3T>A rs111033518
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600
NM_206933.4(USH2A):c.13587del (p.Ser4530fs) rs1571948114
NM_206933.4(USH2A):c.14365C>T (p.Gln4789Ter) rs1571929573
NM_206933.4(USH2A):c.14787del (p.Glu4930fs) rs34713174
NM_206933.4(USH2A):c.1521_1522delinsAT (p.Tyr507_Ala508delinsTer) rs1571701069
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) rs111033273
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter) rs534534437
NM_206933.4(USH2A):c.2073C>A (p.Cys691Ter) rs376674482
NM_206933.4(USH2A):c.2815del (p.Tyr939fs) rs1572074292
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs) rs111033367
NM_206933.4(USH2A):c.4510dup (p.Arg1504fs) rs727503731
NM_206933.4(USH2A):c.486-1G>C rs876657730
NM_206933.4(USH2A):c.5776+1G>A rs876657731
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272
Single allele

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