ClinVar Miner

List of variants in gene USH2A reported as likely pathogenic for Usher syndrome type 1

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)	rs111033524	0.00008
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)	rs1057519382	0.00002

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