ClinVar Miner

List of variants reported as likely pathogenic for Usher syndrome type 2A by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys)	rs199840367	0.00014
NM_206933.4(USH2A):c.2195G>T (p.Gly732Val)	rs1360258103

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