ClinVar Miner

List of variants studied for Usher syndrome type 2A by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255 0.00190
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239 0.00081

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