ClinVar Miner

List of variants in gene PCDH15 reported as likely pathogenic for Usher syndrome type 1D

Included ClinVar conditions (5):

Deafness, autosomal recessive 12; Usher syndrome, type 1D
Deafness, autosomal recessive 12; Usher syndrome, type 1D; PITUITARY ADENOMA 5, MULTIPLE TYPES
Deafness, autosomal recessive 23; Usher syndrome, type 1D; Usher syndrome, type 1F
Usher syndrome, type 1D
Usher syndrome, type 1D; Deafness, autosomal recessive 84

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Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 1

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HGVS	dbSNP
NM_001142763.1:c.-189197_c.610-5166del

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