ClinVar Miner

List of variants studied for Usher syndrome type 2A by Institute of Human Genetics, University of Goettingen

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.199T>G (p.Cys67Gly) rs2102788868
NM_206933.4(USH2A):c.2168-1G>T
NM_206933.4(USH2A):c.4115C>A (p.Pro1372His) rs2034853248
NM_206933.4(USH2A):c.8618T>G (p.Leu2873Ter) rs2102450764

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