ClinVar Miner

List of variants studied for Usher syndrome type 1 by Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.1623dup (p.Lys542fs) rs782077721
NM_000260.4(MYO7A):c.4115T>G (p.Val1372Gly) rs869312181
NM_000260.4(MYO7A):c.4996_4997del (p.Ser1666fs) rs1591467894
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs) rs397516326

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