List of variants studied for Dystonia 27; Bethlem myopathy 1C; Ullrich congenital muscular dystrophy 1C

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_004369.4(COL6A3):c.3190C>T (p.Arg1064Trp)	rs369810455	0.00016
NM_004369.4(COL6A3):c.466G>T (p.Asp156Tyr)	rs199632952	0.00009
NM_004369.4(COL6A3):c.6053C>T (p.Ala2018Val)	rs200239695	0.00009
NM_004369.4(COL6A3):c.9116C>T (p.Thr3039Met)	rs116655315	0.00006
NM_004369.4(COL6A3):c.709+4A>G	rs1458579992	0.00001
NM_004369.4(COL6A3):c.1483C>A (p.Pro495Thr)
NM_004369.4(COL6A3):c.1992C>T (p.Asn664=)
NM_004369.4(COL6A3):c.2218C>T (p.Arg740Cys)	rs147182340
NM_004369.4(COL6A3):c.7546A>G (p.Ser2516Gly)	rs749651818
NM_004369.4(COL6A3):c.8634_8651del (p.2875KPVTTT[1])	rs780678900

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