ClinVar Miner

List of variants reported as likely pathogenic for Usher syndrome type 2A by Genomics England Pilot Project, Genomics England

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.1036A>C (p.Asn346His)	rs369522997	0.00006
NM_206933.4(USH2A):c.7595-2144A>G	rs786200928	0.00004

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