List of variants reported as likely benign for Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A; Dystonia 27 by Fulgent Genetics, Fulgent Genetics

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_004369.4(COL6A3):c.3071-16G>A	rs73998896	0.01822
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln)	rs80272723	0.01000
NM_004369.4(COL6A3):c.5059C>T (p.Pro1687Ser)	rs35273032	0.00703
NM_004369.4(COL6A3):c.4183C>T (p.Arg1395Trp)	rs73998894	0.00603
NM_004369.4(COL6A3):c.4895G>A (p.Arg1632Gln)	rs111231885	0.00438
NM_004369.4(COL6A3):c.1182C>T (p.Thr394=)	rs114750216	0.00432
NM_004369.4(COL6A3):c.2463T>C (p.Ser821=)	rs115387170	0.00267
NM_004369.4(COL6A3):c.958G>A (p.Ala320Thr)	rs115819851	0.00017
NM_004369.4(COL6A3):c.7645C>T (p.Arg2549Trp)	rs151079701

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