ClinVar Miner

List of variants studied for Chromosome 17q11.2 deletion syndrome, 1.4Mb; Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_001042492.3(NF1):c.1137C>T (p.Cys379=)	rs139648455	0.00031

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