ClinVar Miner

List of variants studied for Usher syndrome type 2A by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264 0.00006
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs) rs1366496013
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.4(USH2A):c.7047G>A (p.Trp2349Ter)

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