ClinVar Miner

List of variants studied for Usher syndrome type 2A by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.11189A>G (p.Glu3730Gly) rs1341032857 0.00001
NM_206933.4(USH2A):c.14683A>G (p.Ser4895Gly) rs1469032409
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met) rs550772689

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