ClinVar Miner

List of variants reported as likely pathogenic for Usher syndrome type 1 by Sharon lab, Hadassah-Hebrew University Medical Center

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr)	rs368341987	0.00021
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg)	rs111033283	0.00001
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg)	rs727503329

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