ClinVar Miner

List of variants studied for Usher syndrome type 2A by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_206933.4(USH2A):c.5857+2T>C rs397518022 0.00002
NM_206933.4(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs) rs869312180

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