ClinVar Miner

List of variants studied for Usher syndrome type 2A by Molecular Genetics Laboratory; Baylor College of Medicine

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=) rs55961436 0.01005
NM_206933.4(USH2A):c.1724G>T (p.Cys575Phe) rs483353054
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055
NM_206933.4(USH2A):c.7475C>A (p.Ser2492Ter) rs483353056

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