ClinVar Miner

List of variants in gene CDH23 studied 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

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 1

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HGVS	dbSNP
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn)	rs111033271

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