ClinVar Miner

List of variants reported as benign for autosomal recessive nonsyndromic hearing loss 1A by Invitae

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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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr)	rs111033338	0.00452
NM_001110219.3(GJB6):c.339T>A (p.Asn113Lys)	rs143766955	0.00312
NM_001110219.3(GJB6):c.489G>A (p.Leu163=)	rs35002004	0.00300
NM_001110219.3(GJB6):c.358G>A (p.Asp120Asn)	rs193292569	0.00120
NM_001110219.3(GJB6):c.15G>A (p.Thr5=)	rs150075979	0.00113
NM_001110219.3(GJB6):c.607A>G (p.Met203Val)	rs200674715	0.00086
NM_001110219.3(GJB6):c.396G>A (p.Leu132=)	rs189971962	0.00004
NM_001110219.3(GJB6):c.111G>A (p.Val37=)	rs543659673

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