List of variants reported as uncertain significance for collagen 6-related myopathy by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001848.3(COL6A1):c.2911G>A (p.Val971Met)	rs769795690	0.00006
NM_004370.6(COL12A1):c.793C>T (p.Arg265Cys)	rs749760185	0.00005
NM_004370.6(COL12A1):c.1760T>C (p.Ile587Thr)	rs1235556906	0.00003
NM_001848.3(COL6A1):c.1255G>A (p.Gly419Ser)	rs745485695	0.00001
NM_004369.4(COL6A3):c.2236C>A (p.Leu746Ile)	rs755052076	0.00001
NM_004369.4(COL6A3):c.3220G>A (p.Asp1074Asn)	rs778403814	0.00001
NM_004369.4(COL6A3):c.6520G>A (p.Gly2174Ser)	rs766458058	0.00001
NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val)	rs1013873051	0.00001
NM_001849.4(COL6A2):c.148G>A (p.Val50Met)	rs727502826
NM_001849.4(COL6A2):c.2069C>G (p.Ala690Gly)	rs1568940242

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