ClinVar Miner

List of variants in gene COL6A1 reported as benign for not specified

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Gene type:
ClinVar version:
Total variants: 95
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HGVS dbSNP
NM_001848.2(COL6A1):c.-5C>G rs7671
NM_001848.2(COL6A1):c.1002+37A>G rs11702174
NM_001848.2(COL6A1):c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGAGGACGGGGAGGGACGGGGAGG rs1556425767
NM_001848.2(COL6A1):c.1002+43A>G rs11702175
NM_001848.2(COL6A1):c.1002+43_1002+52del rs398123629
NM_001848.2(COL6A1):c.1002+43_1002+81delAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGA rs72435610
NM_001848.2(COL6A1):c.1002+45T>C rs368643049
NM_001848.2(COL6A1):c.1002+50C>A rs11702079
NM_001848.2(COL6A1):c.1002+50C>T rs11702079
NM_001848.2(COL6A1):c.1056C>T (p.Asp352=) rs116343553
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+20C>T rs7275706
NM_001848.2(COL6A1):c.1182+3G>A rs62215499
NM_001848.2(COL6A1):c.1273-8C>T rs7280215
NM_001848.2(COL6A1):c.1298G>A (p.Arg433Gln) rs151158105
NM_001848.2(COL6A1):c.1314G>A (p.Thr438=) rs7279254
NM_001848.2(COL6A1):c.1316G>A (p.Arg439Gln) rs35059000
NM_001848.2(COL6A1):c.1335+20G>C rs9306146
NM_001848.2(COL6A1):c.1335+27A>C rs2850173
NM_001848.2(COL6A1):c.1399-32T>C rs2839077
NM_001848.2(COL6A1):c.1443G>A (p.Glu481=) rs80244281
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+15G>A rs116000285
NM_001848.2(COL6A1):c.1524+19G>C rs2276256
NM_001848.2(COL6A1):c.1525-60A>G rs3737437
NM_001848.2(COL6A1):c.1612-10G>A rs141892165
NM_001848.2(COL6A1):c.1612-6C>T rs143812383
NM_001848.2(COL6A1):c.1674+46_1674+47dup rs200245740
NM_001848.2(COL6A1):c.1675-55C>T rs4819179
NM_001848.2(COL6A1):c.1740+50C>T rs148205490
NM_001848.2(COL6A1):c.1773G>A (p.Pro591=) rs74852641
NM_001848.2(COL6A1):c.1813+25T>G rs191946565
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.1822+45C>T rs7276098
NM_001848.2(COL6A1):c.1822+80G>A rs7283989
NM_001848.2(COL6A1):c.1822+88A>G rs7276782
NM_001848.2(COL6A1):c.1823-31C>T rs117330552
NM_001848.2(COL6A1):c.1823-8G>A rs184666690
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.2061C>A (p.Leu687=) rs8132678
NM_001848.2(COL6A1):c.2067-10T>C rs200727020
NM_001848.2(COL6A1):c.2130G>A (p.Thr710=) rs147219060
NM_001848.2(COL6A1):c.2250+6G>C rs202212586
NM_001848.2(COL6A1):c.2251-29C>T rs35796750
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.2434+55G>A rs2236487
NM_001848.2(COL6A1):c.2435-19C>T rs115181427
NM_001848.2(COL6A1):c.2441A>G (p.Lys814Arg) rs11553518
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.2667G>A (p.Ala889=) rs1053315
NM_001848.2(COL6A1):c.2669C>T (p.Ser890Leu) rs13051496
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.2783G>A (p.Arg928His) rs144671871
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.3054C>T (p.His1018=) rs141237809
NM_001848.2(COL6A1):c.324C>T (p.Gly108=) rs138646508
NM_001848.2(COL6A1):c.347G>A (p.Ser116Asn) rs11553519
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.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+32C>T rs114454809
NM_001848.2(COL6A1):c.739-18C>T rs144843800
NM_001848.2(COL6A1):c.739-51C>T rs62215498
NM_001848.2(COL6A1):c.759+16G>A rs373366336
NM_001848.2(COL6A1):c.777G>A (p.Pro259=) rs61735854
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.958-17G>A rs79364611
NM_001848.2(COL6A1):c.97+20G>A rs114178849

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