List of variants studied for collagen 6-related myopathy by NeuroMeGen, Hospital Clinico Santiago de Compostela

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001849.4(COL6A2):c.1466G>A (p.Arg489Gln)	rs61735828	0.00627
NM_001848.3(COL6A1):c.202C>T (p.Arg68Cys)	rs137964147	0.00057
NM_001849.4(COL6A2):c.2891T>C (p.Met964Thr)	rs1427750922	0.00001
NM_001848.3(COL6A1):c.1483C>T (p.Pro495Ser)	rs1569518677
NM_001849.4(COL6A2):c.1806C>A (p.Cys602Ter)	rs751987553
NM_004369.4(COL6A3):c.6320_6322del (p.Gly2107del)	rs1559225974

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