ClinVar Miner

List of variants in gene COL6A2 studied for Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1; Myosclerosis, autosomal recessive

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Total variants: 4
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NM_001849.3(COL6A2):c.169G>A (p.Val57Ile) rs768434256
NM_001849.3(COL6A2):c.2197G>A (p.Gly733Arg) rs886042922
NM_001849.3(COL6A2):c.2251G>A (p.Asp751Asn) rs375884809
NM_001849.3(COL6A2):c.3029T>G (p.Phe1010Cys) rs1051148162

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