RS80338943 GJB2
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What This Variant Does
"Also known as 235delC, this SNP in the GJB2 gene is one of the most common nonsyndromic recessive de...
Associated Conditions
Autosomal recessive nonsyndromic hearing loss 1A
Deafness
digenic
GJB2/GJB3
Hearing impairment
Nonsyndromic genetic hearing loss
Autosomal dominant nonsyndromic hearing loss 3A
Hearing loss
Rare genetic deafness
Autosomal recessive nonsyndromic hearing loss 1B
Autism spectrum disorder
GJB2-related disorder
7 conditions
Palmoplantar keratoderma-deafness syndrome
Knuckle pads
Other Variants in GJB2