List of variants reported as uncertain significance for collagen 6-related myopathy by Mendelics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp)	rs150165484	0.00131
NM_004369.4(COL6A3):c.1292C>T (p.Pro431Leu)	rs144746928	0.00008
NM_001848.3(COL6A1):c.821C>T (p.Pro274Leu)	rs201093313	0.00002
NM_001849.4(COL6A2):c.1976G>C (p.Arg659Pro)	rs558005986
NM_004369.3(COL6A3):c.[6064-5G>A];[6859delC]

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