ClinVar Miner

List of variants in gene USH2A reported as likely benign for Usher syndrome type 2

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP
NM_007123.5(USH2A):c.3158-47_3158-17del rs1553315049
NM_206933.3(USH2A):c.1935A>T (p.Thr645=) rs146670690
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
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.1143+12C>T rs727505167
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.14511C>T (p.Ile4837=) rs139847770
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.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.1722T>G (p.Pro574=) rs397518002
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.4758+3A>G rs117798425
NM_206933.4(USH2A):c.478G>A (p.Gly160Ser) rs111033479
NM_206933.4(USH2A):c.4983T>C (p.Asp1661=) rs111033532
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln) rs111033409
NM_206933.4(USH2A):c.5844T>C (p.Arg1948=) rs147930567
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.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.7130A>G (p.Asn2377Ser) rs111033394
NM_206933.4(USH2A):c.8265T>C (p.Leu2755=) rs727505274
NM_206933.4(USH2A):c.8499T>C (p.Ser2833=) rs753719500
NM_206933.4(USH2A):c.9342A>G (p.Pro3114=) rs181961185

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