ClinVar Miner

List of variants reported as pathogenic for Usher syndrome type 3A by Ocular Genomics Institute, Massachusetts Eye and Ear

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys)	rs111033258	0.00016
NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter)	rs111033267	0.00001

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