ClinVar Miner

List of variants in gene COL6A1 reported by PreventionGenetics

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Gene type:
ClinVar version:
Total variants: 96
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HGVS dbSNP
NM_001848.2(COL6A1):c.-5C>G rs7671
NM_001848.2(COL6A1):c.-8C>A rs886038491
NM_001848.2(COL6A1):c.1003-15delT rs769487412
NM_001848.2(COL6A1):c.1095T>C (p.Gly365=) rs1980982
NM_001848.2(COL6A1):c.1119+39C>T rs74982956
NM_001848.2(COL6A1):c.1120-12G>A rs115107397
NM_001848.2(COL6A1):c.1182+3G>A rs62215499
NM_001848.2(COL6A1):c.1186C>G (p.Gln396Glu) rs886038493
NM_001848.2(COL6A1):c.1273-8C>T rs7280215
NM_001848.2(COL6A1):c.1335+20G>C rs9306146
NM_001848.2(COL6A1):c.1335+27A>C rs2850173
NM_001848.2(COL6A1):c.1336-17G>A rs185337381
NM_001848.2(COL6A1):c.1399-32T>C rs2839077
NM_001848.2(COL6A1):c.1461+18C>A rs2276254
NM_001848.2(COL6A1):c.1461+41dupG rs3216137
NM_001848.2(COL6A1):c.1462-36A>G rs2276255
NM_001848.2(COL6A1):c.1506G>C (p.Pro502=) rs139987124
NM_001848.2(COL6A1):c.1518T>C (p.Gly506=) rs35134265
NM_001848.2(COL6A1):c.1524+19G>C rs2276256
NM_001848.2(COL6A1):c.1584G>A (p.Pro528=) rs139243418
NM_001848.2(COL6A1):c.1611+20C>T rs369940697
NM_001848.2(COL6A1):c.1611+48C>T rs886038494
NM_001848.2(COL6A1):c.1612-10G>A rs141892165
NM_001848.2(COL6A1):c.1612-6C>T rs143812383
NM_001848.2(COL6A1):c.1671C>T (p.Asp557=) rs770099663
NM_001848.2(COL6A1):c.1674+15G>A rs749423625
NM_001848.2(COL6A1):c.1674+46_1674+47dupCA rs200245740
NM_001848.2(COL6A1):c.1740+50C>T rs148205490
NM_001848.2(COL6A1):c.1773G>A (p.Pro591=) rs74852641
NM_001848.2(COL6A1):c.1776+13C>T rs201734661
NM_001848.2(COL6A1):c.1814-6C>G rs182804464
NM_001848.2(COL6A1):c.1822+42G>C rs13053065
NM_001848.2(COL6A1):c.1822+45C>G rs7276098
NM_001848.2(COL6A1):c.1823-31C>T rs117330552
NM_001848.2(COL6A1):c.1833C>T (p.Cys611=) rs142554239
NM_001848.2(COL6A1):c.1956+15C>T rs11701124
NM_001848.2(COL6A1):c.1957-11C>T rs8132521
NM_001848.2(COL6A1):c.1957-5C>T rs78224483
NM_001848.2(COL6A1):c.2042T>C (p.Ile681Thr) rs138884734
NM_001848.2(COL6A1):c.2045G>A (p.Arg682Gln) rs148962954
NM_001848.2(COL6A1):c.2130G>A (p.Thr710=) rs147219060
NM_001848.2(COL6A1):c.2251-29C>T rs35796750
NM_001848.2(COL6A1):c.2418C>T (p.Thr806=) rs760768642
NM_001848.2(COL6A1):c.2424G>T (p.Gln808His) rs140547835
NM_001848.2(COL6A1):c.2434+15A>G rs2236485
NM_001848.2(COL6A1):c.2434+20G>A rs2236486
NM_001848.2(COL6A1):c.2435-19C>T rs115181427
NM_001848.2(COL6A1):c.2441A>G (p.Lys814Arg) rs11553518
NM_001848.2(COL6A1):c.2464+11C>T rs202074876
NM_001848.2(COL6A1):c.2464+18C>T rs754626987
NM_001848.2(COL6A1):c.2469G>A (p.Thr823=) rs146662894
NM_001848.2(COL6A1):c.2480C>T (p.Pro827Leu) rs761774962
NM_001848.2(COL6A1):c.2512G>A (p.Ala838Thr) rs529770550
NM_001848.2(COL6A1):c.2517C>T (p.Ser839=) rs141463437
NM_001848.2(COL6A1):c.2549G>A (p.Arg850His) rs1053312
NM_001848.2(COL6A1):c.2635A>G (p.Ser879Gly) rs140534207
NM_001848.2(COL6A1):c.2642C>T (p.Thr881Met) rs150432347
NM_001848.2(COL6A1):c.2667G>A (p.Ala889=) rs1053315
NM_001848.2(COL6A1):c.2669C>T (p.Ser890Leu) rs13051496
NM_001848.2(COL6A1):c.2709C>T (p.Ala903=) rs139018148
NM_001848.2(COL6A1):c.2736C>T (p.Asp912=) rs13879
NM_001848.2(COL6A1):c.2742C>T (p.Thr914=) rs115163637
NM_001848.2(COL6A1):c.2781C>T (p.Tyr927=) rs61735853
NM_001848.2(COL6A1):c.2796C>T (p.Ser932=) rs1053320
NM_001848.2(COL6A1):c.2865C>T (p.Ile955=) rs138062080
NM_001848.2(COL6A1):c.2866G>A (p.Glu956Lys) rs149534094
NM_001848.2(COL6A1):c.2874C>T (p.Ala958=) rs769441014
NM_001848.2(COL6A1):c.347G>A (p.Ser116Asn) rs11553519
NM_001848.2(COL6A1):c.349G>A (p.Val117Met) rs150686304
NM_001848.2(COL6A1):c.423C>T (p.Leu141=) rs373486149
NM_001848.2(COL6A1):c.428+14A>G rs3746993
NM_001848.2(COL6A1):c.428+39C>G rs148766287
NM_001848.2(COL6A1):c.428+40G>A rs71324475
NM_001848.2(COL6A1):c.429-19G>A rs741956
NM_001848.2(COL6A1):c.429-30C>T rs190029634
NM_001848.2(COL6A1):c.579C>T (p.Pro193=) rs61751027
NM_001848.2(COL6A1):c.588+13C>A rs754507
NM_001848.2(COL6A1):c.588+19dup rs111710378
NM_001848.2(COL6A1):c.588+37A>G rs117470181
NM_001848.2(COL6A1):c.645G>A (p.Ala215=) rs115292913
NM_001848.2(COL6A1):c.717+33G>A rs373394656
NM_001848.2(COL6A1):c.739-18C>T rs144843800
NM_001848.2(COL6A1):c.759+16G>A rs373366336
NM_001848.2(COL6A1):c.777G>A (p.Pro259=) rs61735854
NM_001848.2(COL6A1):c.805-36G>A rs202231424
NM_001848.2(COL6A1):c.859-18T>A rs398123641
NM_001848.2(COL6A1):c.859-19A>G rs2277814
NM_001848.2(COL6A1):c.859-20C>T rs78884675
NM_001848.2(COL6A1):c.903+14C>A rs34495634
NM_001848.2(COL6A1):c.930+14G>A rs766551754
NM_001848.2(COL6A1):c.930+30T>C rs148909683
NM_001848.2(COL6A1):c.931-4G>A rs758332867
NM_001848.2(COL6A1):c.958-17G>A rs79364611
NM_001848.2(COL6A1):c.97+20G>A rs114178849
NM_001848.2(COL6A1):c.981C>T (p.Ile327=) rs138401567
NM_001848.2(COL6A1):c.993C>T (p.Asp331=) rs373948031

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