ClinVar Miner

List of variants studied for Usher syndrome type 1 by MGZ Medical Genetics Center

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter)	rs111033198	0.00001
NM_000260.4(MYO7A):c.1679A>G (p.Tyr560Cys)	rs2135312491

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