ClinVar Miner

List of variants reported as benign for Ullrich congenital muscular dystrophy 1A

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
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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 0.87078
NM_001848.3(COL6A1):c.859-19A>G rs2277814 0.86865
NM_001849.4(COL6A2):c.1671+10A>G rs915786 0.86241
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 0.74122
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 0.60426
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 0.49659
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.2097C>T (p.Gly699=) rs13046639 0.44460
NM_001849.4(COL6A2):c.2094G>A (p.Ala698=) rs13052956 0.44458
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_001848.3(COL6A1):c.2549G>A (p.Arg850His) rs1053312 0.32867
NM_001848.3(COL6A1):c.2667G>A (p.Ala889=) rs1053315 0.32659
NM_001849.4(COL6A2):c.2184G>A (p.Val728=) rs2839114 0.32526
NM_001848.3(COL6A1):c.2796C>T (p.Ser932=) rs1053320 0.32005
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.2669C>T (p.Ser890Leu) rs13051496 0.15479
NM_004369.4(COL6A3):c.7596G>A (p.Lys2532=) rs2291795 0.12954
NM_004369.4(COL6A3):c.6945C>T (p.Phe2315=) rs2646265 0.10608
NM_004369.4(COL6A3):c.7512C>T (p.Asn2504=) rs2646258 0.10531
NM_004369.4(COL6A3):c.6653C>T (p.Pro2218Leu) rs36117715 0.07538
NM_004369.4(COL6A3):c.7842C>T (p.Ser2614=) rs34558385 0.06903
NM_004369.4(COL6A3):c.7329C>T (p.Ala2443=) rs10084221 0.06701
NM_001848.3(COL6A1):c.1773G>A (p.Pro591=) rs74852641 0.03265
NM_004369.4(COL6A3):c.7509G>A (p.Arg2503=) rs34181055 0.02427
NM_001848.3(COL6A1):c.2736C>T (p.Asp912=) rs13879 0.02053
NM_004369.4(COL6A3):c.7086A>C (p.Gly2362=) rs35902696 0.01962
NM_004369.4(COL6A3):c.6981A>G (p.Glu2327=) rs35993209 0.01827
NM_001848.3(COL6A1):c.1957-5C>T rs78224483 0.01793
NM_001848.3(COL6A1):c.2042T>C (p.Ile681Thr) rs138884734 0.01280
NM_004369.4(COL6A3):c.4727G>A (p.Arg1576Gln) rs61729839 0.01085
NM_004369.4(COL6A3):c.7928C>T (p.Ala2643Val) rs111595697 0.00482
NM_004369.4(COL6A3):c.4285+17G>A rs3791000 0.00392
NM_004369.4(COL6A3):c.6592-16A>T rs181698279 0.00026
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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