RS1801002 GJB2
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What This Variant Does
"CLNSIG=255
Associated Conditions
Autosomal recessive nonsyndromic hearing loss 1A
Hearing impairment
Rare genetic deafness
Autosomal dominant nonsyndromic hearing loss 3A
Nonsyndromic genetic hearing loss
GJB2-related disorder
Mutilating keratoderma
Knuckle pads
deafness AND leukonychia syndrome
Palmoplantar keratoderma-deafness syndrome
7 conditions
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal recessive nonsyndromic hearing loss 1A
Hearing impairment
Rare genetic deafness
Other Variants in GJB2