ClinVar Miner

List of variants in gene PDZD7 reported as pathogenic for Usher syndrome type 2

Included ClinVar conditions (9):

Deafness, autosomal recessive 12; Usher syndrome, type 2A
Deafness, autosomal recessive 31; Usher syndrome, type 2D
Usher syndrome type 2
Usher syndrome, type 2A
Usher syndrome, type 2A; Retinitis pigmentosa 39
Usher syndrome, type 2C
Usher syndrome, type 2C; Febrile seizures, familial, 4
Usher syndrome, type 2C; Usher syndrome, type 2A; DEAFNESS, AUTOSOMAL RECESSIVE 57
Usher syndrome, type 2D

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Gene type:		Distinguish antisense genes from sense genes
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Total variants: 1

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HGVS	dbSNP
NM_001195263.2(PDZD7):c.1012del (p.Ser338fs)	rs1564634581

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