ClinVar Miner

List of variants studied for Usher syndrome type 2A by Division of Human Genetics, Children's Hospital of Philadelphia

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_206933.4(USH2A):c.3043C>T (p.His1015Tyr) rs142302070 0.00007
NM_206933.4(USH2A):c.8200G>A (p.Val2734Met) rs397518035 0.00001

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