List of variants reported as uncertain significance for Bethlem myopathy 1A by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001849.4(COL6A2):c.2158C>T (p.Arg720Cys)	rs748592288	0.00003
NM_004369.4(COL6A3):c.8201G>A (p.Arg2734Gln)	rs115116398	0.00003
NM_001849.4(COL6A2):c.1051C>T (p.Arg351Trp)	rs531146637	0.00002
NM_001849.4(COL6A2):c.790C>T (p.Arg264Cys)	rs760263812	0.00002
NM_001849.4(COL6A2):c.2137C>T (p.Arg713Cys)	rs139627965	0.00001
NM_001848.3(COL6A1):c.1740+5G>A
NM_001848.3(COL6A1):c.211G>A (p.Asp71Asn)
NM_004369.4(COL6A3):c.120A>G (p.Ile40Met)
NM_004369.4(COL6A3):c.4282C>T (p.Pro1428Ser)
NM_004370.6(COL12A1):c.427T>A (p.Phe143Ile)

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