ClinVar Miner

List of variants in gene COL6A1 reported as benign by GeneDx

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Total variants: 102
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HGVS dbSNP
NC_000021.9:g.45987794del
NM_001848.2(COL6A1):c.-5C>G rs7671
NM_001848.2(COL6A1):c.1002+55T>C
NM_001848.2(COL6A1):c.1003-61T>G
NM_001848.2(COL6A1):c.1095T>C (p.Gly365=) rs1980982
NM_001848.2(COL6A1):c.1119+189T>C
NM_001848.2(COL6A1):c.1119+209A>G
NM_001848.2(COL6A1):c.1119+261G>A
NM_001848.2(COL6A1):c.1120-12G>A rs115107397
NM_001848.2(COL6A1):c.1182+20C>T rs7275706
NM_001848.2(COL6A1):c.1273-138G>A
NM_001848.2(COL6A1):c.1273-151G>A
NM_001848.2(COL6A1):c.1273-8C>T rs7280215
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+116C>T
NM_001848.2(COL6A1):c.1336-152G>T
NM_001848.2(COL6A1):c.1399-111A>G
NM_001848.2(COL6A1):c.1399-129A>G
NM_001848.2(COL6A1):c.1399-283_1399-221del63
NM_001848.2(COL6A1):c.1443G>A (p.Glu481=) rs80244281
NM_001848.2(COL6A1):c.1461+18C>A rs2276254
NM_001848.2(COL6A1):c.1506G>C (p.Pro502=) rs139987124
NM_001848.2(COL6A1):c.1524+15G>A rs116000285
NM_001848.2(COL6A1):c.1524+19G>C rs2276256
NM_001848.2(COL6A1):c.1576-78G>C
NM_001848.2(COL6A1):c.1611+217T>C
NM_001848.2(COL6A1):c.1612-10G>A rs141892165
NM_001848.2(COL6A1):c.1740+145G>T
NM_001848.2(COL6A1):c.1741-51G>A
NM_001848.2(COL6A1):c.1773G>A (p.Pro591=) rs74852641
NM_001848.2(COL6A1):c.1776+141A>G
NM_001848.2(COL6A1):c.1776+164G>A
NM_001848.2(COL6A1):c.1776+174G>A
NM_001848.2(COL6A1):c.1776+182_1776+183insA
NM_001848.2(COL6A1):c.1776+188T>C
NM_001848.2(COL6A1):c.1776+198C>T
NM_001848.2(COL6A1):c.1776+91C>T
NM_001848.2(COL6A1):c.1777-229G>A
NM_001848.2(COL6A1):c.1813+137C>T
NM_001848.2(COL6A1):c.1814-6C>G rs182804464
NM_001848.2(COL6A1):c.1822+185C>T
NM_001848.2(COL6A1):c.1822+231G>A
NM_001848.2(COL6A1):c.1823-196A>G
NM_001848.2(COL6A1):c.1823-199G>T
NM_001848.2(COL6A1):c.1823-8G>A rs184666690
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.1957-78G>A
NM_001848.2(COL6A1):c.1957-82C>T
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.2130G>A (p.Thr710=) rs147219060
NM_001848.2(COL6A1):c.228-140G>C
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+88C>T
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+70C>G
NM_001848.2(COL6A1):c.2465-72C>T
NM_001848.2(COL6A1):c.2549G>A (p.Arg850His) rs1053312
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.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.2866G>A (p.Glu956Lys) rs149534094
NM_001848.2(COL6A1):c.347G>A (p.Ser116Asn) rs11553519
NM_001848.2(COL6A1):c.428+14A>G rs3746993
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.589-57G>A
NM_001848.2(COL6A1):c.645G>A (p.Ala215=) rs115292913
NM_001848.2(COL6A1):c.739-18C>T rs144843800
NM_001848.2(COL6A1):c.858+188G>C
NM_001848.2(COL6A1):c.858+62C>T
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
NM_001848.2(COL6A1):c.98-214C>T
NM_001848.2(COL6A1):c.98-321_98-320insC
NM_001848.2:c.1335+27A>C
NM_001848.2:c.1399-32T>C
NM_001848.2:c.1462-36A>G
NM_001848.2:c.1525-60A>G
NM_001848.2:c.1675-55C>T
NM_001848.2:c.1822+42G>C
NM_001848.2:c.1822+45C>G
NM_001848.2:c.1822+45C>T
NM_001848.2:c.1822+80G>A
NM_001848.2:c.1822+88A>G
NM_001848.2:c.2251-29C>T
NM_001848.2:c.2434+55G>A
NM_001848.2:c.588+37A>G
NM_001848.2:c.739-51C>T

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