ClinVar Miner

List of variants reported as likely pathogenic for Usher syndrome type 2A by Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_206933.2:c.6326-3582_6658-1028del
NM_206933.4(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs)	rs869312180
NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln)	rs869312182

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