ClinVar Miner

List of variants studied for Usher syndrome type 1 by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.470+1G>A rs797044510 0.00001
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs) rs1555099541

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