ClinVar Miner

List of variants in gene CDH23 studied for Usher syndrome type 2

Included ClinVar conditions (9):

Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 2A
Autosomal recessive nonsyndromic hearing loss 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; Hearing loss, autosomal recessive 57
Usher syndrome type 2D

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

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn)	rs111033271	0.00009
NM_022124.6(CDH23):c.9077+1G>A	rs1841885880

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