List of variants reported as not provided for Bethlem myopathy 1A by GenomeConnect, ClinGen

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001849.4(COL6A2):c.*56T>G	rs148337125	0.01837
NM_001849.4(COL6A2):c.1970-3C>A	rs201879417	0.00118
NM_004369.4(COL6A3):c.3902G>A (p.Arg1301Gln)	rs148038440	0.00066
NM_001849.4(COL6A2):c.1264G>A (p.Glu422Lys)	rs200167715	0.00002
NM_001848.3(COL6A1):c.181A>G (p.Lys61Glu)	rs1439633596
NM_004369.4(COL6A3):c.5731C>T (p.Leu1911Phe)	rs2106349155
NM_004369.4(COL6A3):c.6354+1G>A	rs886042883

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