ClinVar Miner

List of variants in gene COL6A3 reported as benign by Genetic Services Laboratory, University of Chicago

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Total variants: 26
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HGVS dbSNP
NM_004369.3(COL6A3):c.*7G>C rs4663722
NM_004369.3(COL6A3):c.1471G>C (p.Asp491His) rs112010940
NM_004369.3(COL6A3):c.1475C>G (p.Thr492Ser) rs113897824
NM_004369.3(COL6A3):c.1914G>A (p.Arg638=) rs34904623
NM_004369.3(COL6A3):c.3129C>T (p.Gly1043=) rs12622093
NM_004369.3(COL6A3):c.3191G>A (p.Arg1064Gln) rs112638391
NM_004369.3(COL6A3):c.3262A>C (p.Lys1088Gln) rs11896521
NM_004369.3(COL6A3):c.4156G>A (p.Glu1386Lys) rs146092501
NM_004369.3(COL6A3):c.4285+9G>A rs75780727
NM_004369.3(COL6A3):c.4311T>C (p.Ile1437=) rs2646260
NM_004369.3(COL6A3):c.4533G>T (p.Gly1511=) rs2645774
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.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.7596G>A (p.Lys2532=) rs2291795
NM_004369.3(COL6A3):c.7929G>A (p.Ala2643=) rs4433949
NM_004369.3(COL6A3):c.8145A>G (p.Leu2715=) rs35763271
NM_004369.3(COL6A3):c.8491G>C (p.Asp2831His) rs36104025
NM_004369.3(COL6A3):c.8780T>C (p.Met2927Thr) rs6728818
NM_004369.3(COL6A3):c.9034G>C (p.Ala3012Pro) rs2270669
NM_004369.3(COL6A3):c.9129C>T (p.Arg3043=) rs10201909
NM_004369.3(COL6A3):c.9206C>T (p.Thr3069Ile) rs1131296
NM_004369.3(COL6A3):c.9411T>C (p.Cys3137=) rs112290343

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