ClinVar Miner

List of variants reported as pathogenic for Brown-Vialetto-van Laere syndrome 2 by Duke University Health System Sequencing Clinic, Duke University Health System

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001363118.2(SLC52A2):c.1016T>C (p.Leu339Pro)	rs148234606	0.00008
NM_001363118.2(SLC52A2):c.808C>T (p.Gln270Ter)	rs375088539	0.00003

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