RS1057517718 CLCN7
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What This Variant Does
"CLNSIG=5
Associated Conditions
Hypopigmentation
organomegaly
and delayed myelination and development
Autosomal dominant osteopetrosis 2
Autosomal recessive osteopetrosis 4
Hypopigmentation
organomegaly
and delayed myelination and development
Autosomal dominant osteopetrosis 2
Autosomal recessive osteopetrosis 4
Other Variants in CLCN7