ClinVar Miner

List of variants reported as likely pathogenic for Usher syndrome, type 2A by Counsyl

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Total variants: 7
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HGVS dbSNP
NM_206933.3(USH2A):c.1036A>C (p.Asn346His) rs369522997
NM_206933.3(USH2A):c.13257_13263del (p.Phe4419fs) rs1057517533
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.5877del (p.Ser1961fs) rs727505343
NM_206933.3(USH2A):c.9343_9344AC[1] (p.Pro3116fs) rs536593247

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