ClinVar Miner

List of variants reported as uncertain significance for Dystonia 27; Bethlem myopathy 1C; Ullrich congenital muscular dystrophy 1C

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Total variants: 7
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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.9116C>T (p.Thr3039Met) rs116655315 0.00006
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

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