ClinVar Miner

List of variants in gene USH2A reported as likely pathogenic for Usher syndrome, type 2A

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Total variants: 24
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HGVS dbSNP
NM_206933.2(USH2A):c.[12100G>A];[3367T>C]
NM_206933.2:c.6326-3582_6658-1028del
NM_206933.3(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_206933.3(USH2A):c.1036A>C (p.Asn346His) rs369522997
NM_206933.3(USH2A):c.10712C>T (p.Thr3571Met) rs202175091
NM_206933.3(USH2A):c.11156G>A (p.Arg3719His) rs527236139
NM_206933.3(USH2A):c.12079C>T (p.Gln4027Ter) rs527236138
NM_206933.3(USH2A):c.12151G>T (p.Glu4051Ter) rs1262416703
NM_206933.3(USH2A):c.13257_13263del (p.Phe4419fs) rs1057517533
NM_206933.3(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544
NM_206933.3(USH2A):c.1859G>T (p.Cys620Phe) rs758571672
NM_206933.3(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.3(USH2A):c.3543_3544AT[2] (p.Ile1183fs) rs397518013
NM_206933.3(USH2A):c.3558del (p.Cys1186fs) rs397518014
NM_206933.3(USH2A):c.3967del (p.Thr1322_Met1323insTer) rs527236136
NM_206933.3(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.3(USH2A):c.6446C>A (p.Pro2149Gln) rs869312182
NM_206933.3(USH2A):c.6722C>T (p.Pro2241Leu)
NM_206933.3(USH2A):c.7475C>A (p.Ser2492Ter) rs483353056
NM_206933.3(USH2A):c.7493del (p.Ser2498fs) rs1553274448
NM_206933.3(USH2A):c.8266del (p.Ser2756fs) rs1558141330
NM_206933.3(USH2A):c.9258+1G>A rs748810737
NM_206933.3(USH2A):c.9343_9344AC[1] (p.Pro3116fs) rs536593247
NM_206933.3(USH2A):c.9827C>G (p.Ser3276Ter) rs863224941

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