ClinVar Miner

List of variants studied for Usher syndrome type 1 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro) rs749747871 0.00006
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe) rs200416912 0.00006
NM_000260.4(MYO7A):c.2766_2779del (p.Lys923fs)
NM_000260.4(MYO7A):c.5043+3A>G
NM_000260.4(MYO7A):c.6231dup (p.Lys2078fs) rs730880367

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