ClinVar Miner

List of variants reported as likely benign for palmoplantar keratoderma-deafness syndrome

Included ClinVar conditions (4):

Autosomal recessive nonsyndromic hearing loss 1A; Mutilating keratoderma; Ichthyosis, hystrix-like, with hearing loss; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome; Palmoplantar keratoderma-deafness syndrome; Knuckle pads, deafness AND leukonychia syndrome; Autosomal dominant nonsyndromic hearing loss 3A
Autosomal recessive nonsyndromic hearing loss 1A; Mutilating keratoderma; Ichthyosis, hystrix-like, with hearing loss; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome; Palmoplantar keratoderma-deafness syndrome; Knuckle pads, deafness AND leukonychia syndrome; Autosomal dominant nonsyndromic hearing loss 3A; X-linked mixed hearing loss with perilymphatic gusher
Autosomal recessive nonsyndromic hearing loss 1A; Mutilating keratoderma; Ichthyosis, hystrix-like, with hearing loss; Palmoplantar keratoderma-deafness syndrome; Knuckle pads, deafness AND leukonychia syndrome; Autosomal dominant nonsyndromic hearing loss 3A
Palmoplantar keratoderma-deafness syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.-216T>G	rs574815423	0.01243
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly)	rs2274083	0.00499
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)	rs111033218	0.00150
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn)	rs111033188	0.00014
NM_004004.6(GJB2):c.195C>T (p.Tyr65=)	rs763572195	0.00003
NM_004004.6(GJB2):c.474C>T (p.Tyr158=)	rs375759781	0.00001

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.