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

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_004369.4(COL6A3):c.3223C>T (p.Arg1075Trp)	rs201962257	0.00061
NM_004369.4(COL6A3):c.8009C>T (p.Ala2670Val)	rs142851023	0.00061
NM_004369.4(COL6A3):c.3040A>G (p.Lys1014Glu)	rs114284669	0.00021
NM_004369.4(COL6A3):c.5825C>T (p.Pro1942Leu)	rs150694150	0.00012
NM_004369.4(COL6A3):c.3055G>A (p.Gly1019Arg)	rs370664069	0.00009
NM_004369.4(COL6A3):c.8236G>A (p.Glu2746Lys)	rs111395856	0.00008
NM_004369.4(COL6A3):c.5341A>G (p.Ile1781Val)	rs145447965	0.00007
NM_004369.4(COL6A3):c.4309A>T (p.Ile1437Phe)	rs144314743	0.00003
NM_004369.4(COL6A3):c.1268C>T (p.Ala423Val)	rs181264679	0.00001
NM_004369.4(COL6A3):c.709+8C>T	rs779535244	0.00001
NM_004369.4(COL6A3):c.911A>G (p.Gln304Arg)	rs1370564126	0.00001
NM_004369.4(COL6A3):c.3499A>T (p.Ile1167Phe)	rs886042996

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