Database of Pathogenic Variants
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Disease Detail
Disease Name
Deafness, autosomal recessive, 1A
OMIM:220290
MedGen:C2673759
MedGen:C2673760
MedGen:C2673761
Associated Genes and Variants
GJB2
NM_004004.5:c.176_191del16
NM_004004.5:c.19C>T
NM_004004.5:c.235delC
NM_004004.5:c.299_300delAT
NM_004004.5:c.35_35dupG
NM_004004.5:c.35delG
NM_004004.5:c.512_513insAACG
NM_004004.6:c.235delC
NM_004004.6:c.299_300delAT
NM_004004.6:c.427C>T
NM_004004:c.109G>A
NM_004004:c.146C>T
NM_004004:c.212T>C
NM_004004:c.257C>G
NM_004004:c.299_300delAT
NM_004004:c.427C>T