List of variants reported as pathogenic for Ullrich congenital muscular dystrophy 1A by Baylor Genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_058174.3(COL6A2):c.2554C>T (p.Gln852Ter)	rs777172978	0.00007
NM_001848.3(COL6A1):c.930+189C>T	rs1556425596
NM_001849.4(COL6A2):c.2422+1G>A	rs113828929
NM_004369.4(COL6A3):c.6210+1G>A	rs398124126
NM_004369.4(COL6A3):c.6460C>T (p.Arg2154Ter)	rs762768377

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