List of variants studied for Bethlem myopathy 1A by Baylor Genetics

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001848.3(COL6A1):c.2857G>A (p.Ala953Thr)	rs150378645	0.00038
NM_004369.4(COL6A3):c.2303G>A (p.Arg768His)	rs575412915	0.00004
NM_001848.3(COL6A1):c.1960G>A (p.Glu654Lys)	rs375318905	0.00003
NM_001849.4(COL6A2):c.436C>T (p.Arg146Trp)	rs762263982	0.00002
NM_004369.4(COL6A3):c.5138G>A (p.Gly1713Glu)	rs779425587	0.00001
NM_001848.3(COL6A1):c.1226C>A (p.Ala409Glu)	rs765826390
NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg)	rs121912939
NM_004369.4(COL6A3):c.6283-28A>G
NM_004369.4(COL6A3):c.6826G>A (p.Gly2276Arg)	rs761156771
NM_004369.4(COL6A3):c.7975C>T (p.Gln2659Ter)	rs2076974450

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