ClinVar Miner

List of variants reported as likely pathogenic for Usher syndrome type 1 by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000260.4(MYO7A):c.849+5G>A	rs1060499716	0.00001
NM_000260.4(MYO7A):c.1349A>T (p.Glu450Val)	rs1555069238
NM_000260.4(MYO7A):c.5001_5002del (p.Tyr1668fs)	rs1591467918

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