ClinVar Miner

List of variants in gene COL6A1 reported as benign by PreventionGenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 50
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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_001848.3(COL6A1):c.588+13C>A rs754507 0.69697
NM_001848.3(COL6A1):c.1095T>C (p.Gly365=) rs1980982 0.60426
NM_001848.3(COL6A1):c.1461+18C>A rs2276254 0.58488
NM_001848.3(COL6A1):c.2251-29C>T rs35796750 0.50435
NM_001848.3(COL6A1):c.1399-32T>C rs2839077 0.49659
NM_001848.3(COL6A1):c.1956+15C>T rs11701124 0.48762
NM_001848.3(COL6A1):c.-5C>G rs7671 0.46506
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_001848.3(COL6A1):c.2796C>T (p.Ser932=) rs1053320 0.32005
NM_001848.3(COL6A1):c.2434+20G>A rs2236486 0.31361
NM_001848.3(COL6A1):c.1822+42G>C rs13053065 0.31288
NM_001848.3(COL6A1):c.1957-11C>T rs8132521 0.28523
NM_001848.3(COL6A1):c.903+14C>A rs34495634 0.17795
NM_001848.3(COL6A1):c.2669C>T (p.Ser890Leu) rs13051496 0.15479
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn) rs11553519 0.05277
NM_001848.3(COL6A1):c.428+40G>A rs71324475 0.05102
NM_001848.3(COL6A1):c.1773G>A (p.Pro591=) rs74852641 0.03265
NM_001848.3(COL6A1):c.2435-19C>T rs115181427 0.03003
NM_001848.3(COL6A1):c.2781C>T (p.Tyr927=) rs61735853 0.02858
NM_001848.3(COL6A1):c.1823-31C>T rs117330552 0.02707
NM_001848.3(COL6A1):c.1273-8C>T rs7280215 0.02565
NM_001848.3(COL6A1):c.2736C>T (p.Asp912=) rs13879 0.02053
NM_001848.3(COL6A1):c.1957-5C>T rs78224483 0.01793
NM_001848.3(COL6A1):c.1674+46_1674+47dup rs200245740 0.01387
NM_001848.3(COL6A1):c.2042T>C (p.Ile681Thr) rs138884734 0.01280
NM_001848.3(COL6A1):c.97+20G>A rs114178849 0.01230
NM_001848.3(COL6A1):c.2061C>A (p.Leu687=) rs8132678 0.01197
NM_001848.3(COL6A1):c.645G>A (p.Ala215=) rs115292913 0.01120
NM_001848.3(COL6A1):c.2424G>T (p.Gln808His) rs140547835 0.00922
NM_001848.3(COL6A1):c.1612-10G>A rs141892165 0.00714
NM_001848.3(COL6A1):c.1823-8G>A rs184666690 0.00711
NM_001848.3(COL6A1):c.777G>A (p.Pro259=) rs61735854 0.00491
NM_001848.3(COL6A1):c.1335+20G>C rs9306146 0.00401
NM_001848.3(COL6A1):c.1518T>C (p.Gly506=) rs35134265 0.00313
NM_001848.3(COL6A1):c.1612-6C>T rs143812383 0.00296
NM_001848.3(COL6A1):c.2517C>T (p.Ser839=) rs141463437 0.00163
NM_001848.3(COL6A1):c.759+16G>A rs373366336 0.00019
NM_001848.3(COL6A1):c.1461+41dup rs3216137
NM_001848.3(COL6A1):c.1524+19G>C rs2276256
NM_001848.3(COL6A1):c.1814-6C>G rs182804464
NM_001848.3(COL6A1):c.1822+45C>G rs7276098
NM_001848.3(COL6A1):c.2783G>A (p.Arg928His) rs144671871
NM_001848.3(COL6A1):c.429-19G>A rs741956
NM_001848.3(COL6A1):c.588+19dup rs111710378

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