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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLCN7
(V754F +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive osteopetrosis 4
GLikely pathogenic
CLCN7
(K522fs +1 more)
Deletion
(frameshift variant)
Autosomal recessive osteopetrosis 4
GLikely pathogenic