ClinVar Miner

List of variants studied for Usher syndrome by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (31):

Deafness, autosomal dominant 11; Deafness, autosomal recessive 2; Usher syndrome type 1
Deafness, autosomal recessive 12; Usher syndrome type 1D
Deafness, autosomal recessive 12; Usher syndrome type 1D; PITUITARY ADENOMA 5, MULTIPLE TYPES
Deafness, autosomal recessive 12; Usher syndrome, type 2A
Deafness, autosomal recessive 23; Usher syndrome type 1D; Usher syndrome type 1F
Deafness, autosomal recessive 2; Usher syndrome type 1
Deafness, autosomal recessive 31; Usher syndrome, type 2D
Retinitis pigmentosa-deafness syndrome
Usher syndrome
Usher syndrome type 1
Usher syndrome type 1D
Usher syndrome type 1D; Deafness, autosomal recessive 84
Usher syndrome type 1F
Usher syndrome type 2
Usher syndrome, type 1B
Usher syndrome, type 1C
Usher syndrome, type 1C; Deafness, autosomal recessive 18
Usher syndrome, type 1C; Deafness, autosomal recessive 18; Usher syndrome type 1
Usher syndrome, type 1G
Usher syndrome, type 1J
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
Usher syndrome, type 3A
Usher syndrome, type 3B
Usher syndrome, type 3B; Charcot-Marie-Tooth disease, axonal, type 2w
Usher syndrome, type 4
Usher syndrome; Rare genetic deafness

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Total variants: 1

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HGVS	dbSNP
NM_032119.4(ADGRV1):c.4148A>G (p.Tyr1383Cys)	rs1580609185

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