ClinVar Miner

List of variants reported as benign for autosomal recessive nonsyndromic hearing loss 1A by Illumina Laboratory Services, Illumina

Included ClinVar conditions (9):

Autosomal recessive nonsyndromic hearing loss 1A
Autosomal recessive nonsyndromic hearing loss 1A; Autosomal dominant nonsyndromic hearing loss 2B; Erythrokeratodermia variabilis et progressiva 1
Autosomal recessive nonsyndromic hearing loss 1A; Autosomal dominant nonsyndromic hearing loss 3A
Autosomal recessive nonsyndromic hearing loss 1A; Autosomal recessive nonsyndromic hearing loss 1B
Autosomal recessive nonsyndromic hearing loss 1A; Autosomal recessive nonsyndromic hearing loss 1B; Autosomal dominant nonsyndromic hearing loss 3B; Hidrotic ectodermal dysplasia syndrome
Autosomal recessive nonsyndromic hearing loss 1A; Autosomal recessive nonsyndromic hearing loss 1B; Autosomal dominant nonsyndromic hearing loss 3B; X-linked mixed hearing loss with perilymphatic gusher; Hidrotic ectodermal dysplasia syndrome
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

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.*1277T>C	rs7988691	0.99748
NM_004004.6(GJB2):c.*1152G>A	rs7623	0.89599
NM_004004.6(GJB2):c.*84T>C	rs3751385	0.73662
NM_004004.6(GJB2):c.-22-12C>T	rs9578260	0.07478
NM_004004.6(GJB2):c.*111C>T	rs7329857	0.06802
NM_004004.6(GJB2):c.*104A>T	rs7337074	0.06800
NM_004004.6(GJB2):c.*168A>G	rs55704559	0.04011
NM_004004.6(GJB2):c.*931C>T	rs5030700	0.03992
NM_004004.6(GJB2):c.79G>A (p.Val27Ile)	rs2274084	0.02218
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly)	rs2274083	0.00499
NM_004004.6(GJB2):c.608T>C (p.Ile203Thr)	rs76838169	0.00129
NM_004004.6(GJB2):c.*1067G>T	rs9237

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