List of variants reported as uncertain significance for MASA syndrome by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001278116.2(L1CAM):c.1220G>A (p.Arg407His)	rs139197516	0.00004
NM_001278116.2(L1CAM):c.1433C>A (p.Ala478Asp)	rs1298830102	0.00002
NM_001278116.2(L1CAM):c.2179G>A (p.Glu727Lys)	rs1386982536	0.00001
NM_001278116.2(L1CAM):c.2515G>C (p.Ala839Pro)
NM_001278116.2(L1CAM):c.892C>G (p.Gln298Glu)
NM_001278116.2(L1CAM):c.913G>A (p.Glu305Lys)

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