ClinVar Miner

List of variants reported as benign for Ullrich congenital muscular dystrophy 1A by Genome-Nilou Lab

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001848.3(COL6A1):c.1335+27A>C rs2850173 0.88231
NM_001848.3(COL6A1):c.2434+15A>G rs2236485 0.87616
NM_001848.3(COL6A1):c.428+14A>G rs3746993 0.87022
NM_001848.3(COL6A1):c.859-19A>G rs2277814 0.86865
NM_001849.4(COL6A2):c.1671+10A>G rs915786 0.85505
NM_001849.4(COL6A2):c.1332+26A>G rs3737362 0.82158
NM_004369.4(COL6A3):c.9034G>C (p.Ala3012Pro) rs2270669 0.81638
NM_001849.4(COL6A2):c.1771-25A>G rs2839113 0.81072
NM_001849.4(COL6A2):c.1196G>A (p.Ser399Asn) rs2839110 0.74081
NM_001848.3(COL6A1):c.588+13C>A rs754507 0.69697
NM_004369.4(COL6A3):c.8780T>C (p.Met2927Thr) rs6728818 0.68552
NM_001848.3(COL6A1):c.1095T>C (p.Gly365=) rs1980982 0.59527
NM_004369.4(COL6A3):c.6855G>C (p.Gly2285=) rs3790993 0.56512
NM_001849.4(COL6A2):c.2462-35C>T rs7279622 0.54180
NM_001848.3(COL6A1):c.1399-32T>C rs2839077 0.49819
NM_001849.4(COL6A2):c.1116+32G>A rs7279347 0.49217
NM_001849.4(COL6A2):c.2039G>A (p.Arg680His) rs1042917 0.45419
NM_001849.4(COL6A2):c.928-19C>T rs762438 0.45414
NM_001849.4(COL6A2):c.2094G>A (p.Ala698=) rs13052956 0.44324
NM_001849.4(COL6A2):c.2097C>T (p.Gly699=) rs13046639 0.44323
NM_004369.4(COL6A3):c.7929G>A (p.Ala2643=) rs4433949 0.38748
NM_004369.4(COL6A3):c.9206C>T (p.Thr3069Ile) rs1131296 0.36920
NM_001848.3(COL6A1):c.1462-36A>G rs2276255 0.35129
NM_001849.4(COL6A2):c.2184G>A (p.Val728=) rs2839114 0.32526
NM_001848.3(COL6A1):c.2549G>A (p.Arg850His) rs1053312 0.32217
NM_001848.3(COL6A1):c.2667G>A (p.Ala889=) rs1053315 0.32026
NM_001848.3(COL6A1):c.2796C>T (p.Ser932=) rs1053320 0.31295
NM_004369.4(COL6A3):c.6369G>A (p.Leu2123=) rs2646254 0.25503
NM_004369.4(COL6A3):c.4533G>T (p.Gly1511=) rs2645774 0.23421
NM_004369.4(COL6A3):c.3129C>T (p.Gly1043=) rs12622093 0.20507
NM_004369.4(COL6A3):c.7092+26G>A rs2270656 0.19247
NM_001848.3(COL6A1):c.903+14C>A rs34495634 0.17795
NM_001848.3(COL6A1):c.429-19G>A rs741956
NM_001849.4(COL6A2):c.1672-24C>G rs3746995
NM_004369.4(COL6A3):c.4311T>C (p.Ile1437=) rs2646260

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