ClinVar Miner

List of variants in gene COL6A3 reported as likely benign for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 154
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004369.4(COL6A3):c.6945C>T (p.Phe2315=) rs2646265 0.10608
NM_004369.4(COL6A3):c.7512C>T (p.Asn2504=) rs2646258 0.10531
NM_004369.4(COL6A3):c.9213C>T (p.His3071=) rs2270671 0.10029
NM_004369.4(COL6A3):c.8962A>G (p.Met2988Val) rs11690358 0.07295
NM_004369.4(COL6A3):c.8451A>G (p.Pro2817=) rs61729844 0.06907
NM_004369.4(COL6A3):c.7842C>T (p.Ser2614=) rs34558385 0.06903
NM_004369.4(COL6A3):c.8820G>A (p.Thr2940=) rs11683438 0.06890
NM_004369.4(COL6A3):c.1976G>A (p.Arg659His) rs36092870 0.02734
NM_004369.4(COL6A3):c.9123G>A (p.Thr3041=) rs61729843 0.02678
NM_004369.4(COL6A3):c.882C>T (p.Phe294=) rs7561625 0.02665
NM_004369.4(COL6A3):c.1313-17A>G rs7579816 0.02624
NM_004369.4(COL6A3):c.7509G>A (p.Arg2503=) rs34181055 0.02427
NM_004369.4(COL6A3):c.5100G>A (p.Arg1700=) rs34340053 0.02105
NM_004369.4(COL6A3):c.1786G>T (p.Ala596Ser) rs34934127 0.02035
NM_004369.4(COL6A3):c.3071-16G>A rs73998896 0.01822
NM_004369.4(COL6A3):c.7668+21G>C rs11897148 0.01818
NM_004369.4(COL6A3):c.7995A>C (p.Ala2665=) rs80193928 0.01815
NM_004369.4(COL6A3):c.6690+39T>C rs58342729 0.01495
NM_004369.4(COL6A3):c.3054C>T (p.Asn1018=) rs34367758 0.01387
NM_004369.4(COL6A3):c.3420G>A (p.Thr1140=) rs35489467 0.01378
NM_004369.4(COL6A3):c.8822C>T (p.Ala2941Val) rs11903206 0.01334
NM_004369.4(COL6A3):c.1389C>T (p.Ala463=) rs112896869 0.01203
NM_004369.4(COL6A3):c.768C>T (p.Val256=) rs79606264 0.01148
NM_004369.4(COL6A3):c.2419G>A (p.Ala807Thr) rs113155945 0.01061
NM_004369.4(COL6A3):c.4005C>T (p.Gly1335=) rs34503558 0.01014
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln) rs80272723 0.01000
NM_004369.4(COL6A3):c.6408+44A>G rs78398512 0.00900
NM_004369.4(COL6A3):c.6156+4C>T rs111228504 0.00884
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596 0.00808
NM_004369.4(COL6A3):c.6105G>A (p.Lys2035=) rs35556524 0.00550
NM_004369.4(COL6A3):c.8010G>A (p.Ala2670=) rs79313758 0.00483
NM_004369.4(COL6A3):c.7928C>T (p.Ala2643Val) rs111595697 0.00482
NM_004369.4(COL6A3):c.5917+27A>G rs78387780 0.00458
NM_004369.4(COL6A3):c.709+11C>T rs111660070 0.00395
NM_004369.4(COL6A3):c.4285+17G>A rs3791000 0.00392
NM_004369.4(COL6A3):c.8572G>A (p.Val2858Ile) rs111859552 0.00388
NM_004369.4(COL6A3):c.3191G>A (p.Arg1064Gln) rs112638391 0.00306
NM_004369.4(COL6A3):c.5820C>T (p.Ser1940=) rs113542401 0.00272
NM_004369.4(COL6A3):c.2463T>C (p.Ser821=) rs115387170 0.00267
NM_004369.4(COL6A3):c.8458G>A (p.Val2820Ile) rs115171119 0.00260
NM_004369.4(COL6A3):c.3446G>A (p.Arg1149Gln) rs36062562 0.00234
NM_004369.4(COL6A3):c.7400C>T (p.Ser2467Leu) rs111803773 0.00225
NM_004369.4(COL6A3):c.1688A>G (p.Asp563Gly) rs112913396 0.00220
NM_004369.4(COL6A3):c.4217C>T (p.Thr1406Met) rs114061998 0.00214
NM_004369.4(COL6A3):c.3270C>T (p.Asp1090=) rs113781746 0.00178
NM_004369.4(COL6A3):c.1761C>T (p.Ala587=) rs34978064 0.00147
NM_004369.4(COL6A3):c.489G>A (p.Ala163=) rs148970984 0.00125
NM_004369.4(COL6A3):c.6751C>T (p.Arg2251Trp) rs116690555 0.00124
NM_004369.4(COL6A3):c.4090G>A (p.Val1364Met) rs35524572 0.00122
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp) rs138466455 0.00110
NM_004369.4(COL6A3):c.2292C>T (p.Asn764=) rs116066149 0.00096
NM_004369.4(COL6A3):c.7007C>T (p.Pro2336Leu) rs202092407 0.00096
NM_004369.4(COL6A3):c.4169C>T (p.Ser1390Leu) rs115548605 0.00095
NM_004369.4(COL6A3):c.91+11G>C rs372744024 0.00089
NM_004369.4(COL6A3):c.4117G>A (p.Ala1373Thr) rs112181324 0.00077
NM_004369.4(COL6A3):c.1024G>A (p.Val342Met) rs111402193 0.00076
NM_004369.4(COL6A3):c.9245C>G (p.Pro3082Arg) rs182976977 0.00064
NM_004369.4(COL6A3):c.292A>T (p.Thr98Ser) rs76646066 0.00057
NM_004369.4(COL6A3):c.5619C>T (p.His1873=) rs146355600 0.00051
NM_004369.4(COL6A3):c.3680-5C>T rs370146203 0.00046
NM_004369.4(COL6A3):c.5139G>A (p.Gly1713=) rs114338020 0.00046
NM_004369.4(COL6A3):c.7779C>T (p.Ile2593=) rs144249704 0.00044
NM_004369.4(COL6A3):c.786C>T (p.Leu262=) rs111481402 0.00043
NM_004369.4(COL6A3):c.2205C>T (p.Gly735=) rs148713779 0.00041
NM_004369.4(COL6A3):c.3419C>T (p.Thr1140Met) rs201131900 0.00041
NM_004369.4(COL6A3):c.1056C>T (p.Leu352=) rs78365682 0.00039
NM_004369.4(COL6A3):c.9017A>G (p.Lys3006Arg) rs2270668 0.00039
NM_004369.4(COL6A3):c.1131C>T (p.Phe377=) rs189772397 0.00038
NM_004369.4(COL6A3):c.8007C>T (p.His2669=) rs528369978 0.00035
NM_004369.4(COL6A3):c.5712C>T (p.Asp1904=) rs151234107 0.00033
NM_004369.4(COL6A3):c.4399A>G (p.Asn1467Asp) rs138049094 0.00031
NM_004369.4(COL6A3):c.4912G>A (p.Ala1638Thr) rs114322958 0.00031
NM_004369.4(COL6A3):c.1478T>C (p.Val493Ala) rs116794756 0.00030
NM_004369.4(COL6A3):c.7029+10C>T rs376525317 0.00027
NM_004369.4(COL6A3):c.7359G>A (p.Glu2453=) rs114199044 0.00027
NM_004369.4(COL6A3):c.4047C>T (p.Asp1349=) rs115893145 0.00026
NM_004369.4(COL6A3):c.4900+9C>T rs117345850 0.00026
NM_004369.4(COL6A3):c.7092+20T>C rs115681406 0.00026
NM_004369.4(COL6A3):c.1146G>A (p.Gln382=) rs368800027 0.00025
NM_004369.4(COL6A3):c.9128G>A (p.Arg3043His) rs552651651 0.00025
NM_004369.4(COL6A3):c.3954C>T (p.Tyr1318=) rs375909800 0.00022
NM_004369.4(COL6A3):c.4503C>T (p.Asp1501=) rs115551245 0.00022
NM_004369.4(COL6A3):c.3040A>G (p.Lys1014Glu) rs114284669 0.00021
NM_004369.4(COL6A3):c.759C>T (p.Thr253=) rs376087730 0.00021
NM_004369.4(COL6A3):c.8097G>A (p.Val2699=) rs115757876 0.00017
NM_004369.4(COL6A3):c.958G>A (p.Ala320Thr) rs115819851 0.00017
NM_004369.4(COL6A3):c.8804C>T (p.Ala2935Val) rs36020669 0.00016
NM_004369.4(COL6A3):c.1264G>A (p.Val422Met) rs114511558 0.00015
NM_004369.4(COL6A3):c.6064-6C>T rs202091342 0.00013
NM_004369.4(COL6A3):c.3063A>G (p.Pro1021=) rs200098134 0.00012
NM_004369.4(COL6A3):c.3205G>A (p.Val1069Met) rs115297652 0.00011
NM_004369.4(COL6A3):c.6798C>T (p.Thr2266=) rs116541926 0.00011
NM_004369.4(COL6A3):c.3324C>T (p.Thr1108=) rs116239777 0.00010
NM_004369.4(COL6A3):c.543T>C (p.Asp181=) rs898779231 0.00010
NM_004369.4(COL6A3):c.5968C>T (p.Arg1990Trp) rs146546544 0.00010
NM_004369.4(COL6A3):c.4032G>A (p.Ser1344=) rs145048734 0.00009
NM_004369.4(COL6A3):c.7702C>T (p.Leu2568=) rs201479636 0.00009
NM_004369.4(COL6A3):c.34G>A (p.Val12Ile) rs137910388 0.00008
NM_004369.4(COL6A3):c.4849G>A (p.Ala1617Thr) rs200433282 0.00008
NM_004369.4(COL6A3):c.2754C>T (p.Tyr918=) rs114492689 0.00006
NM_004369.4(COL6A3):c.7755T>C (p.His2585=) rs145581705 0.00006
NM_004369.4(COL6A3):c.8826G>A (p.Ala2942=) rs751580746 0.00006
NM_004369.4(COL6A3):c.2994G>A (p.Ser998=) rs768233315 0.00005
NM_004369.4(COL6A3):c.6477C>T (p.Asn2159=) rs149697986 0.00005
NM_004369.4(COL6A3):c.2147G>A (p.Gly716Asp) rs144514259 0.00004
NM_004369.4(COL6A3):c.3750C>T (p.Tyr1250=) rs763648429 0.00004
NM_004369.4(COL6A3):c.3936G>C (p.Val1312=) rs776983763 0.00004
NM_004369.4(COL6A3):c.5265G>A (p.Ser1755=) rs140699766 0.00004
NM_004369.4(COL6A3):c.6967-15C>T rs112451272 0.00004
NM_004369.4(COL6A3):c.8244G>A (p.Pro2748=) rs113754336 0.00004
NM_004369.4(COL6A3):c.8389T>C (p.Leu2797=) rs754977455 0.00004
NM_004369.4(COL6A3):c.1785C>T (p.Ile595=) rs114278376 0.00003
NM_004369.4(COL6A3):c.2497+9C>A rs774198344 0.00003
NM_004369.4(COL6A3):c.6132G>T (p.Gly2044=) rs762950440 0.00003
NM_004369.4(COL6A3):c.624C>T (p.Asp208=) rs757316338 0.00003
NM_004369.4(COL6A3):c.6555T>C (p.Asp2185=) rs199869924 0.00003
NM_004369.4(COL6A3):c.9329-33C>T rs398124137 0.00003
NM_004369.4(COL6A3):c.1530C>T (p.Thr510=) rs373281009 0.00002
NM_004369.4(COL6A3):c.2196G>A (p.Thr732=) rs768242367 0.00002
NM_004369.4(COL6A3):c.2343G>A (p.Ala781=) rs561804945 0.00002
NM_004369.4(COL6A3):c.6036C>T (p.Asp2012=) rs771602562 0.00002
NM_004369.4(COL6A3):c.1898-17T>C rs1057523034 0.00001
NM_004369.4(COL6A3):c.2674G>A (p.Glu892Lys) rs760380736 0.00001
NM_004369.4(COL6A3):c.3617C>T (p.Thr1206Ile) rs949598599 0.00001
NM_004369.4(COL6A3):c.3668T>C (p.Leu1223Pro) rs772944531 0.00001
NM_004369.4(COL6A3):c.3903G>A (p.Arg1301=) rs1407770118 0.00001
NM_004369.4(COL6A3):c.4323C>T (p.Ile1441=) rs747160916 0.00001
NM_004369.4(COL6A3):c.5241C>T (p.Ala1747=) rs746564243 0.00001
NM_004369.4(COL6A3):c.5838+7G>C rs369931091 0.00001
NM_004369.4(COL6A3):c.6156+5G>A rs112374074 0.00001
NM_004369.4(COL6A3):c.6754-9C>G rs886038542 0.00001
NM_004369.4(COL6A3):c.7878C>T (p.Ser2626=) rs145136426 0.00001
NM_004369.4(COL6A3):c.9012C>T (p.Ser3004=) rs199519571 0.00001
NM_004369.4(COL6A3):c.9329-4A>T rs199800564 0.00001
NM_004369.4(COL6A3):c.1228G>A (p.Asp410Asn) rs35914491
NM_004369.4(COL6A3):c.1356C>G (p.Gly452=) rs761005162
NM_004369.4(COL6A3):c.1471_1475delinsCACAG (p.Asp491_Thr492delinsHisSer) rs1064793587
NM_004369.4(COL6A3):c.2488G>T (p.Ala830Ser) rs77181645
NM_004369.4(COL6A3):c.3852C>T (p.Phe1284=) rs148561729
NM_004369.4(COL6A3):c.4011G>A (p.Pro1337=) rs114498197
NM_004369.4(COL6A3):c.4258T>C (p.Leu1420=)
NM_004369.4(COL6A3):c.5061C>T (p.Pro1687=) rs1057522807
NM_004369.4(COL6A3):c.576G>T (p.Pro192=) rs141560881
NM_004369.4(COL6A3):c.5839-9T>C rs745307761
NM_004369.4(COL6A3):c.6156+16C>G rs779455691
NM_004369.4(COL6A3):c.6409-15G>A rs1553553017
NM_004369.4(COL6A3):c.6538-13T>C rs754557027
NM_004369.4(COL6A3):c.6627+19C>T
NM_004369.4(COL6A3):c.710-20dup rs759721812
NM_004369.4(COL6A3):c.7162+11G>A rs540897134
NM_004369.4(COL6A3):c.8465-7dup rs111494366
NM_004369.4(COL6A3):c.8568-19A>G rs886038543
NM_004369.4(COL6A3):c.8865_8867del (p.Ala2960del) rs757584445
NM_004369.4(COL6A3):c.8892G>A (p.Ala2964=) rs147324162

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.