List of variants reported as likely pathogenic for collagen 6-related myopathy by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_004369.4(COL6A3):c.6422C>A (p.Pro2141His)	rs369169235	0.00010
NM_001849.4(COL6A2):c.287A>G (p.Tyr96Cys)	rs2078408746	0.00001
NM_001848.3(COL6A1):c.475G>A (p.Gly159Arg)	rs1471465037
NM_001848.3(COL6A1):c.887G>T (p.Gly296Val)	rs1603590649
NM_001849.4(COL6A2):c.1868C>T (p.Ser623Phe)	rs2123661865

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