ClinVar Miner

List of variants in gene COL6A3 reported as benign for Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1

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Total variants: 13
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HGVS dbSNP
NM_004369.3(COL6A3):c.4727G>A (p.Arg1576Gln) rs61729839
NM_004369.3(COL6A3):c.6369G>A (p.Leu2123=) rs2646254
NM_004369.3(COL6A3):c.6653C>T (p.Pro2218Leu) rs36117715
NM_004369.3(COL6A3):c.6855G>C (p.Gly2285=) rs3790993
NM_004369.3(COL6A3):c.6945C>T (p.Phe2315=) rs2646265
NM_004369.3(COL6A3):c.6981A>G (p.Glu2327=) rs35993209
NM_004369.3(COL6A3):c.7086A>C (p.Gly2362=) rs35902696
NM_004369.3(COL6A3):c.7329C>T (p.Ala2443=) rs10084221
NM_004369.3(COL6A3):c.7509G>A (p.Arg2503=) rs34181055
NM_004369.3(COL6A3):c.7512C>T (p.Asn2504=) rs2646258
NM_004369.3(COL6A3):c.7596G>A (p.Lys2532=) rs2291795
NM_004369.3(COL6A3):c.7842C>T (p.Ser2614=) rs34558385
NM_004369.3(COL6A3):c.7928C>T (p.Ala2643Val) rs111595697

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