RS780261665 COL7A1
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What This Variant Does
"CLNSIG=5
Associated Conditions
Palmoplantar blistering
Finger syndactyly
Short stature
Toe syndactyly
Nail dystrophy
Abnormality of the skin
Skin erosion
Nonsyndromic congenital nail disorder 4
Abnormal blistering of the skin
Recessive dystrophic epidermolysis bullosa
Epidermolysis bullosa pruriginosa
7 conditions
COL7A1-related disorder
Palmoplantar blistering
Finger syndactyly
Other Variants in COL7A1