ClinVar Miner

List of variants reported as likely pathogenic for Usher syndrome type 2A by GeneID Lab - Advanced Molecular Diagnostics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.12151G>T (p.Glu4051Ter)	rs1262416703	0.00001
NM_206933.4(USH2A):c.5545_5554del (p.Ser1849fs)	rs1553299022
NM_206933.4(USH2A):c.7493del (p.Ser2498fs)	rs1553274448

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