Database of Pathogenic Variants
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Disease Detail
Disease Name
Stickler syndrome 1
OMIM:108300
Orphanet:90653
MedGen:C0265253
MedGen:CN032634
Associated Genes and Variants
COL2A1
NM_001844.4:c.1142G>A
NM_001844.4:c.3606_3632del27
NM_001844.4:c.833delC
NM_001844.5:c.905C>T
COL11A1
NM_001854.3:c.3168+5G>A