RS727503030 ELN
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What This Variant Does
"CLNSIG=5
Associated Conditions
Supravalvar aortic stenosis
Hypertelorism
Venous malformation
Dural ectasia
Abnormal digit morphology
Cutis laxa
autosomal dominant 1
Hepatocellular carcinoma
Cervical cancer
Supravalvar aortic stenosis
Hypertelorism
Venous malformation
Dural ectasia
Abnormal digit morphology
Cutis laxa
Other Variants in ELN