ClinVar Miner

List of variants in gene COL6A1 reported as benign by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_001848.3(COL6A1):c.1525-60A>G rs3737437 0.89527
NM_001848.3(COL6A1):c.1822+88A>G rs7276782 0.88358
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.1822+80G>A rs7283989 0.51414
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.1675-55C>T rs4819179 0.34598
NM_001848.3(COL6A1):c.739-51C>T rs62215498 0.32957
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.2434+55G>A rs2236487 0.29790
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.1002+43A>G rs11702175 0.10415
NM_001848.3(COL6A1):c.1002+43_1002+52del rs398123629 0.09993
NM_001848.3(COL6A1):c.1002+37A>G rs11702174 0.05344
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.1314G>A (p.Thr438=) rs7279254 0.02172
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.1524+15G>A rs116000285 0.01582
NM_001848.3(COL6A1):c.1443G>A (p.Glu481=) rs80244281 0.01378
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.859-20C>T rs78884675 0.01182
NM_001848.3(COL6A1):c.717+32C>T rs114454809 0.01179
NM_001848.3(COL6A1):c.958-17G>A rs79364611 0.01165
NM_001848.3(COL6A1):c.645G>A (p.Ala215=) rs115292913 0.01120
NM_001848.3(COL6A1):c.2441A>G (p.Lys814Arg) rs11553518 0.01008
NM_001848.3(COL6A1):c.1740+50C>T rs148205490 0.00926
NM_001848.3(COL6A1):c.2424G>T (p.Gln808His) rs140547835 0.00922
NM_001848.3(COL6A1):c.1316G>A (p.Arg439Gln) rs35059000 0.00775
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.3054C>T (p.His1018=) rs141237809 0.00680
NM_001848.3(COL6A1):c.588+37A>G rs117470181 0.00672
NM_001848.3(COL6A1):c.739-18C>T rs144843800 0.00561
NM_001848.3(COL6A1):c.1119+39C>T rs74982956 0.00527
NM_001848.3(COL6A1):c.1056C>T (p.Asp352=) rs116343553 0.00426
NM_001848.3(COL6A1):c.1335+20G>C rs9306146 0.00401
NM_001848.3(COL6A1):c.1813+25T>G rs191946565 0.00394
NM_001848.3(COL6A1):c.2742C>T (p.Thr914=) rs115163637 0.00349
NM_001848.3(COL6A1):c.1518T>C (p.Gly506=) rs35134265 0.00313
NM_001848.3(COL6A1):c.1182+3G>A rs62215499 0.00310
NM_001848.3(COL6A1):c.2067-10T>C rs200727020 0.00299
NM_001848.3(COL6A1):c.1612-6C>T rs143812383 0.00296
NM_001848.3(COL6A1):c.2130G>A (p.Thr710=) rs147219060 0.00252
NM_001848.3(COL6A1):c.1298G>A (p.Arg433Gln) rs151158105 0.00200
NM_001848.3(COL6A1):c.2250+6G>C rs202212586 0.00195
NM_001848.3(COL6A1):c.324C>T (p.Gly108=) rs138646508 0.00194
NM_001848.3(COL6A1):c.1833C>T (p.Cys611=) rs142554239 0.00167
NM_001848.3(COL6A1):c.2517C>T (p.Ser839=) rs141463437 0.00163
NM_001848.3(COL6A1):c.2635A>G (p.Ser879Gly) rs140534207 0.00154
NM_001848.3(COL6A1):c.2865C>T (p.Ile955=) rs138062080 0.00131
NM_001848.3(COL6A1):c.2866G>A (p.Glu956Lys) rs149534094 0.00128
NM_001848.3(COL6A1):c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGAGGACGGGGAGGGACGGGGAGG rs1556425767
NM_001848.3(COL6A1):c.1002+44_1002+82del rs72435610
NM_001848.3(COL6A1):c.1002+45T>C rs368643049
NM_001848.3(COL6A1):c.1002+50C>A rs11702079
NM_001848.3(COL6A1):c.1002+50C>T rs11702079
NM_001848.3(COL6A1):c.1120-12G>A rs115107397
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.1822+45C>T rs7276098
NM_001848.3(COL6A1):c.2783G>A (p.Arg928His) rs144671871
NM_001848.3(COL6A1):c.428+39C>G rs148766287
NM_001848.3(COL6A1):c.429-19G>A rs741956
NM_001848.3(COL6A1):c.588+19dup rs111710378

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