ClinVar Miner

List of variants reported as uncertain significance for Dystonia 27; Bethlem myopathy 1C; Ullrich congenital muscular dystrophy 1C by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_004369.4(COL6A3):c.709+4A>G	rs1458579992	0.00001
NM_004369.4(COL6A3):c.8634_8651del (p.2875KPVTTT[1])	rs780678900

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