ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 135
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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.859-20C>T rs78884675 0.01182
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.805-36G>A rs202231424 0.00830
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.588+37A>G rs117470181 0.00672
NM_001848.3(COL6A1):c.429-30C>T rs190029634 0.00621
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.777G>A (p.Pro259=) rs61735854 0.00491
NM_001848.3(COL6A1):c.579C>T (p.Pro193=) rs61751027 0.00488
NM_001848.3(COL6A1):c.930+30T>C rs148909683 0.00416
NM_001848.3(COL6A1):c.1335+20G>C rs9306146 0.00401
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.1612-6C>T rs143812383 0.00296
NM_001848.3(COL6A1):c.2130G>A (p.Thr710=) rs147219060 0.00252
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.105C>G (p.Pro35=) rs145579577 0.00143
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.2469G>A (p.Thr823=) rs146662894 0.00112
NM_001848.3(COL6A1):c.1336-17G>A rs185337381 0.00103
NM_001848.3(COL6A1):c.170C>A (p.Ala57Asp) rs143502850 0.00093
NM_001848.3(COL6A1):c.2642C>T (p.Thr881Met) rs150432347 0.00081
NM_001848.3(COL6A1):c.1584G>A (p.Pro528=) rs139243418 0.00076
NM_001848.3(COL6A1):c.2968A>C (p.Lys990Gln) rs141663473 0.00076
NM_001848.3(COL6A1):c.984C>T (p.Asp328=) rs781038607 0.00072
NM_001848.3(COL6A1):c.981C>T (p.Ile327=) rs138401567 0.00068
NM_001848.3(COL6A1):c.993C>T (p.Asp331=) rs373948031 0.00057
NM_001848.3(COL6A1):c.997G>A (p.Val333Met) rs201525908 0.00052
NM_001848.3(COL6A1):c.2464+11C>T rs202074876 0.00038
NM_001848.3(COL6A1):c.349G>A (p.Val117Met) rs150686304 0.00038
NM_001848.3(COL6A1):c.2067-6A>G rs113876477 0.00031
NM_001848.3(COL6A1):c.1776+13C>T rs201734661 0.00025
NM_001848.3(COL6A1):c.1122C>T (p.Gly374=) rs373535692 0.00024
NM_001848.3(COL6A1):c.2045G>A (p.Arg682Gln) rs148962954 0.00024
NM_001848.3(COL6A1):c.759+16G>A rs373366336 0.00019
NM_001848.3(COL6A1):c.429-8C>T rs768951384 0.00016
NM_001848.3(COL6A1):c.2820G>A (p.Leu940=) rs111451684 0.00013
NM_001848.3(COL6A1):c.2418C>T (p.Thr806=) rs760768642 0.00011
NM_001848.3(COL6A1):c.726C>T (p.Asn242=) rs142102852 0.00011
NM_001848.3(COL6A1):c.1437C>T (p.Gly479=) rs762625409 0.00010
NM_001848.3(COL6A1):c.2568C>T (p.Ala856=) rs771446601 0.00009
NM_001848.3(COL6A1):c.2464+9C>T rs368651226 0.00008
NM_001848.3(COL6A1):c.1611+20C>T rs369940697 0.00006
NM_001848.3(COL6A1):c.2157G>A (p.Pro719=) rs377152990 0.00006
NM_001848.3(COL6A1):c.2355C>A (p.Gly785=) rs149910296 0.00006
NM_001848.3(COL6A1):c.2746G>A (p.Val916Ile) rs563043611 0.00006
NM_001848.3(COL6A1):c.2709C>T (p.Ala903=) rs139018148 0.00005
NM_001848.3(COL6A1):c.1575C>T (p.Pro525=) rs781031251 0.00004
NM_001848.3(COL6A1):c.1671C>T (p.Asp557=) rs770099663 0.00003
NM_001848.3(COL6A1):c.2251-20G>A rs369894106 0.00003
NM_001848.3(COL6A1):c.2480C>T (p.Pro827Leu) rs761774962 0.00003
NM_001848.3(COL6A1):c.2512G>A (p.Ala838Thr) rs529770550 0.00003
NM_001848.3(COL6A1):c.423C>T (p.Leu141=) rs373486149 0.00003
NM_001848.3(COL6A1):c.2963C>G (p.Thr988Ser) rs746046225 0.00002
NM_001848.3(COL6A1):c.859-18T>A rs398123641 0.00002
NM_001848.3(COL6A1):c.931-4G>A rs758332867 0.00002
NM_001848.3(COL6A1):c.162C>T (p.Pro54=) rs775062782 0.00001
NM_001848.3(COL6A1):c.1741-7C>T rs771621923 0.00001
NM_001848.3(COL6A1):c.1977C>T (p.Tyr659=) rs121912937 0.00001
NM_001848.3(COL6A1):c.2464+18C>T rs754626987 0.00001
NM_001848.3(COL6A1):c.717+33G>A rs373394656 0.00001
NM_001848.3(COL6A1):c.930+14G>A rs766551754 0.00001
NM_001848.3(COL6A1):c.-8C>A rs886038491
NM_001848.3(COL6A1):c.1002+6T>G
NM_001848.3(COL6A1):c.1002+6_1002+88del rs1556425727
NM_001848.3(COL6A1):c.1003-15del rs769487412
NM_001848.3(COL6A1):c.1022G>T (p.Gly341Val) rs121912935
NM_001848.3(COL6A1):c.1120-12G>A rs115107397
NM_001848.3(COL6A1):c.1186C>G (p.Gln396Glu) rs886038493
NM_001848.3(COL6A1):c.1263dup (p.Gly422fs)
NM_001848.3(COL6A1):c.1336-145G>A
NM_001848.3(COL6A1):c.1425del (p.Gly476fs) rs878854398
NM_001848.3(COL6A1):c.1461+41dup rs3216137
NM_001848.3(COL6A1):c.1506G>C (p.Pro502=) rs139987124
NM_001848.3(COL6A1):c.1524+19G>C rs2276256
NM_001848.3(COL6A1):c.1611+48C>T rs886038494
NM_001848.3(COL6A1):c.1674+15G>A rs749423625
NM_001848.3(COL6A1):c.1814-6C>G rs182804464
NM_001848.3(COL6A1):c.1822+45C>G rs7276098
NM_001848.3(COL6A1):c.1959C>T (p.Phe653=) rs112104768
NM_001848.3(COL6A1):c.2197_2200del (p.Asp733fs) rs1330933906
NM_001848.3(COL6A1):c.2250+48G>A
NM_001848.3(COL6A1):c.2783G>A (p.Arg928His) rs144671871
NM_001848.3(COL6A1):c.2874C>T (p.Ala958=) rs769441014
NM_001848.3(COL6A1):c.387C>T (p.Thr129=)
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
NM_001848.3(COL6A1):c.859-18_859-17insGA
NM_001848.3(COL6A1):c.859-20_859-19del
NM_001848.3(COL6A1):c.904-2A>G rs1057519174
NM_001848.3(COL6A1):c.930+1G>A rs886042902

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