List of variants reported as benign for Bethlem myopathy 1 by Mendelics

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001849.4(COL6A2):c.2039G>A (p.Arg680His)	rs1042917	0.45419
NM_004369.4(COL6A3):c.3262A>C (p.Lys1088Gln)	rs11896521	0.05751
NM_004369.4(COL6A3):c.6156+4C>T	rs111228504	0.00884
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg)	rs77632596	0.00808
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys)	rs141703710	0.00717
NM_004369.4(COL6A3):c.2030G>A (p.Arg677His)	rs35227432	0.00389
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His)	rs75120695	0.00315
NM_004369.4(COL6A3):c.4912G>A (p.Ala1638Thr)	rs114322958	0.00031
NM_001849.4(COL6A2):c.1817-3dup	rs149954350

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