ClinVar Miner

List of variants in gene COL6A3 reported as benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 244
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HGVS dbSNP gnomAD frequency
NM_004369.4(COL6A3):c.9034G>C (p.Ala3012Pro) rs2270669 0.81638
NM_004369.4(COL6A3):c.8780T>C (p.Met2927Thr) rs6728818 0.68552
NM_004369.4(COL6A3):c.6855G>C (p.Gly2285=) rs3790993 0.56512
NM_004369.4(COL6A3):c.7929G>A (p.Ala2643=) rs4433949 0.38748
NM_004369.4(COL6A3):c.9206C>T (p.Thr3069Ile) rs1131296 0.36920
NM_004369.4(COL6A3):c.6369G>A (p.Leu2123=) rs2646254 0.25503
NM_004369.4(COL6A3):c.4533G>T (p.Gly1511=) rs2645774 0.23421
NM_004369.4(COL6A3):c.3129C>T (p.Gly1043=) rs12622093 0.20507
NM_004369.4(COL6A3):c.7596G>A (p.Lys2532=) rs2291795 0.12954
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.6653C>T (p.Pro2218Leu) rs36117715 0.07538
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.7329C>T (p.Ala2443=) rs10084221 0.06701
NM_004369.4(COL6A3):c.9129C>T (p.Arg3043=) rs10201909 0.06660
NM_004369.4(COL6A3):c.3262A>C (p.Lys1088Gln) rs11896521 0.05751
NM_004369.4(COL6A3):c.1914G>A (p.Arg638=) rs34904623 0.03265
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.7086A>C (p.Gly2362=) rs35902696 0.01962
NM_004369.4(COL6A3):c.6981A>G (p.Glu2327=) rs35993209 0.01827
NM_004369.4(COL6A3):c.3071-16G>A rs73998896 0.01822
NM_004369.4(COL6A3):c.8145A>G (p.Leu2715=) rs35763271 0.01816
NM_004369.4(COL6A3):c.7995A>C (p.Ala2665=) rs80193928 0.01815
NM_004369.4(COL6A3):c.6157-16G>A rs112637114 0.01524
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.4727G>A (p.Arg1576Gln) rs61729839 0.01085
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.6156+4C>T rs111228504 0.00884
NM_004369.4(COL6A3):c.1613C>T (p.Thr538Met) rs34741387 0.00817
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596 0.00808
NM_004369.4(COL6A3):c.1791C>T (p.Phe597=) rs76576170 0.00714
NM_004369.4(COL6A3):c.5059C>T (p.Pro1687Ser) rs35273032 0.00703
NM_004369.4(COL6A3):c.4285+9G>A rs75780727 0.00613
NM_004369.4(COL6A3):c.4183C>T (p.Arg1395Trp) rs73998894 0.00603
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys) rs146092501 0.00602
NM_004369.4(COL6A3):c.6105G>A (p.Lys2035=) rs35556524 0.00550
NM_004369.4(COL6A3):c.4107C>T (p.Ile1369=) rs35114079 0.00549
NM_004369.4(COL6A3):c.1471G>C (p.Asp491His) rs112010940 0.00503
NM_004369.4(COL6A3):c.1475C>G (p.Thr492Ser) rs113897824 0.00503
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.3456C>T (p.Ser1152=) rs112815265 0.00444
NM_004369.4(COL6A3):c.4895G>A (p.Arg1632Gln) rs111231885 0.00438
NM_004369.4(COL6A3):c.1182C>T (p.Thr394=) rs114750216 0.00432
NM_004369.4(COL6A3):c.9069C>T (p.Thr3023=) rs111234422 0.00431
NM_004369.4(COL6A3):c.8735C>T (p.Pro2912Leu) rs112928650 0.00421
NM_004369.4(COL6A3):c.1231C>G (p.Leu411Val) rs113716915 0.00396
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.4683G>A (p.Gln1561=) rs113074898 0.00392
NM_004369.4(COL6A3):c.2030G>A (p.Arg677His) rs35227432 0.00389
NM_004369.4(COL6A3):c.8572G>A (p.Val2858Ile) rs111859552 0.00388
NM_004369.4(COL6A3):c.8745G>A (p.Ala2915=) rs112382351 0.00388
NM_004369.4(COL6A3):c.6211-3C>T rs139622600 0.00387
NM_004369.4(COL6A3):c.6972C>T (p.Asn2324=) rs113961575 0.00363
NM_004369.4(COL6A3):c.1638C>T (p.Ala546=) rs112040282 0.00360
NM_004369.4(COL6A3):c.3087C>T (p.Asp1029=) rs113066678 0.00353
NM_004369.4(COL6A3):c.8346G>A (p.Glu2782=) rs35911211 0.00339
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.730A>G (p.Ile244Val) rs116729313 0.00265
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.7007C>T (p.Pro2336Leu) rs202092407 0.00096
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.9245C>G (p.Pro3082Arg) rs182976977 0.00064
NM_004369.4(COL6A3):c.292A>T (p.Thr98Ser) rs76646066 0.00057
NM_004369.4(COL6A3):c.3879T>G (p.Asp1293Glu) rs74425496 0.00054
NM_004369.4(COL6A3):c.1248G>A (p.Leu416=) rs150219857 0.00039
NM_004369.4(COL6A3):c.9017A>G (p.Lys3006Arg) rs2270668 0.00039
NM_004369.4(COL6A3):c.5712C>T (p.Asp1904=) rs151234107 0.00033
NM_004369.4(COL6A3):c.9148G>A (p.Ala3050Thr) rs114596320 0.00032
NM_004369.4(COL6A3):c.1478T>C (p.Val493Ala) rs116794756 0.00030
NM_004369.4(COL6A3):c.6151C>A (p.Pro2051Thr) rs370397767 0.00029
NM_004369.4(COL6A3):c.6618C>T (p.Pro2206=) rs201814201 0.00029
NM_004369.4(COL6A3):c.7359G>A (p.Glu2453=) rs114199044 0.00027
NM_004369.4(COL6A3):c.4900+9C>T rs117345850 0.00026
NM_004369.4(COL6A3):c.6592-16A>T rs181698279 0.00026
NM_004369.4(COL6A3):c.9128G>A (p.Arg3043His) rs552651651 0.00025
NM_004369.4(COL6A3):c.3680-4G>A rs376123972 0.00024
NM_004369.4(COL6A3):c.7114G>A (p.Asp2372Asn) rs142002241 0.00024
NM_004369.4(COL6A3):c.3954C>T (p.Tyr1318=) rs375909800 0.00022
NM_004369.4(COL6A3):c.1373T>A (p.Leu458Gln) rs374134397 0.00021
NM_004369.4(COL6A3):c.3040A>G (p.Lys1014Glu) rs114284669 0.00021
NM_004369.4(COL6A3):c.1065C>T (p.Ala355=) rs115155458 0.00019
NM_004369.4(COL6A3):c.8097G>A (p.Val2699=) rs115757876 0.00017
NM_004369.4(COL6A3):c.1264G>A (p.Val422Met) rs114511558 0.00015
NM_004369.4(COL6A3):c.6749C>T (p.Pro2250Leu) rs140728855 0.00015
NM_004369.4(COL6A3):c.1874G>C (p.Arg625Thr) rs61729841 0.00014
NM_004369.4(COL6A3):c.289C>T (p.Arg97Cys) rs144651558 0.00013
NM_004369.4(COL6A3):c.6064-6C>T rs202091342 0.00013
NM_004369.4(COL6A3):c.7025G>A (p.Arg2342Gln) rs369317566 0.00013
NM_004369.4(COL6A3):c.839G>T (p.Arg280Leu) rs370246962 0.00013
NM_004369.4(COL6A3):c.1961A>G (p.Asn654Ser) rs144501019 0.00012
NM_004369.4(COL6A3):c.2497+19C>T rs141966456 0.00012
NM_004369.4(COL6A3):c.4066G>A (p.Ala1356Thr) rs143459232 0.00012
NM_004369.4(COL6A3):c.9117G>A (p.Thr3039=) rs376780810 0.00011
NM_004369.4(COL6A3):c.5838+12C>A rs117734465 0.00010
NM_004369.4(COL6A3):c.5968C>T (p.Arg1990Trp) rs146546544 0.00010
NM_004369.4(COL6A3):c.6422C>A (p.Pro2141His) rs369169235 0.00010
NM_004369.4(COL6A3):c.2144C>T (p.Ser715Leu) rs780115806 0.00009
NM_004369.4(COL6A3):c.4032G>A (p.Ser1344=) rs145048734 0.00009
NM_004369.4(COL6A3):c.414C>T (p.Ala138=) rs148996231 0.00009
NM_004369.4(COL6A3):c.5020G>A (p.Asp1674Asn) rs778940391 0.00009
NM_004369.4(COL6A3):c.7611G>T (p.Gly2537=) rs145868338 0.00009
NM_004369.4(COL6A3):c.7702C>T (p.Leu2568=) rs201479636 0.00009
NM_004369.4(COL6A3):c.9059A>G (p.Tyr3020Cys) rs371006546 0.00009
NM_004369.4(COL6A3):c.91+15C>T rs117521066 0.00009
NM_004369.4(COL6A3):c.1063G>A (p.Ala355Thr) rs375022162 0.00008
NM_004369.4(COL6A3):c.34G>A (p.Val12Ile) rs137910388 0.00008
NM_004369.4(COL6A3):c.4595C>T (p.Ala1532Val) rs372247515 0.00008
NM_004369.4(COL6A3):c.5544C>A (p.Asp1848Glu) rs531282669 0.00007
NM_004369.4(COL6A3):c.8695A>G (p.Ile2899Val) rs115839474 0.00007
NM_004369.4(COL6A3):c.1208C>T (p.Pro403Leu) rs547651808 0.00006
NM_004369.4(COL6A3):c.1313-7C>T rs764201905 0.00006
NM_004369.4(COL6A3):c.1420A>G (p.Arg474Gly) rs928706699 0.00006
NM_004369.4(COL6A3):c.2302C>T (p.Arg768Cys) rs200722892 0.00006
NM_004369.4(COL6A3):c.3508G>A (p.Ala1170Thr) rs754847515 0.00006
NM_004369.4(COL6A3):c.4894C>T (p.Arg1632Trp) rs113755498 0.00006
NM_004369.4(COL6A3):c.550G>A (p.Ala184Thr) rs767499336 0.00006
NM_004369.4(COL6A3):c.5693T>C (p.Val1898Ala) rs774606469 0.00006
NM_004369.4(COL6A3):c.5716T>C (p.Tyr1906His) rs148613877 0.00006
NM_004369.4(COL6A3):c.5975T>C (p.Met1992Thr) rs375613015 0.00006
NM_004369.4(COL6A3):c.7832C>T (p.Ala2611Val) rs114806654 0.00006
NM_004369.4(COL6A3):c.8627C>T (p.Pro2876Leu) rs367635298 0.00006
NM_004369.4(COL6A3):c.3932A>G (p.Asn1311Ser) rs200592625 0.00005
NM_004369.4(COL6A3):c.3934G>A (p.Val1312Met) rs144878757 0.00005
NM_004369.4(COL6A3):c.5128G>A (p.Val1710Ile) rs773631759 0.00005
NM_004369.4(COL6A3):c.5180G>A (p.Arg1727Gln) rs760717002 0.00005
NM_004369.4(COL6A3):c.6640G>A (p.Gly2214Ser) rs777454204 0.00005
NM_004369.4(COL6A3):c.1218T>C (p.Arg406=) rs766367190 0.00004
NM_004369.4(COL6A3):c.1598G>A (p.Arg533His) rs764614021 0.00004
NM_004369.4(COL6A3):c.2426C>T (p.Pro809Leu) rs138281601 0.00004
NM_004369.4(COL6A3):c.29T>C (p.Val10Ala) rs766458324 0.00004
NM_004369.4(COL6A3):c.3273C>T (p.Val1091=) rs200562443 0.00004
NM_004369.4(COL6A3):c.3576C>T (p.Arg1192=) rs201942049 0.00004
NM_004369.4(COL6A3):c.4361A>G (p.His1454Arg) rs141754714 0.00004
NM_004369.4(COL6A3):c.4596G>A (p.Ala1532=) rs747802067 0.00004
NM_004369.4(COL6A3):c.4742C>G (p.Thr1581Arg) rs1156524068 0.00004
NM_004369.4(COL6A3):c.5419G>A (p.Glu1807Lys) rs781624176 0.00004
NM_004369.4(COL6A3):c.5953G>A (p.Val1985Met) rs200478135 0.00004
NM_004369.4(COL6A3):c.6182G>A (p.Arg2061Gln) rs376715966 0.00004
NM_004369.4(COL6A3):c.8231C>T (p.Thr2744Met) rs373680762 0.00004
NM_004369.4(COL6A3):c.8639C>T (p.Thr2880Met) rs770436761 0.00004
NM_004369.4(COL6A3):c.1217G>A (p.Arg406His) rs753651742 0.00003
NM_004369.4(COL6A3):c.2269G>A (p.Asp757Asn) rs544229002 0.00003
NM_004369.4(COL6A3):c.2561T>C (p.Val854Ala) rs747449879 0.00003
NM_004369.4(COL6A3):c.4697C>T (p.Ser1566Leu) rs752785838 0.00003
NM_004369.4(COL6A3):c.5822C>T (p.Ser1941Leu) rs778288464 0.00003
NM_004369.4(COL6A3):c.7192G>A (p.Val2398Ile) rs375640580 0.00003
NM_004369.4(COL6A3):c.7475C>T (p.Ser2492Leu) rs754480145 0.00003
NM_004369.4(COL6A3):c.8359G>A (p.Ala2787Thr) rs763395740 0.00003
NM_004369.4(COL6A3):c.8377G>A (p.Val2793Ile) rs569907876 0.00003
NM_004369.4(COL6A3):c.8744C>T (p.Ala2915Val) rs751532649 0.00003
NM_004369.4(COL6A3):c.1216C>T (p.Arg406Cys) rs112817175 0.00002
NM_004369.4(COL6A3):c.1571A>G (p.Tyr524Cys) rs147546808 0.00002
NM_004369.4(COL6A3):c.1597C>T (p.Arg533Cys) rs751952844 0.00002
NM_004369.4(COL6A3):c.2196G>A (p.Thr732=) rs768242367 0.00002
NM_004369.4(COL6A3):c.2902G>A (p.Val968Ile) rs202122047 0.00002
NM_004369.4(COL6A3):c.3274G>A (p.Val1092Ile) rs576798969 0.00002
NM_004369.4(COL6A3):c.3700G>A (p.Val1234Met) rs747082651 0.00002
NM_004369.4(COL6A3):c.523A>G (p.Ile175Val) rs376501805 0.00002
NM_004369.4(COL6A3):c.7259G>A (p.Arg2420Gln) rs772077690 0.00002
NM_004369.4(COL6A3):c.8854G>A (p.Val2952Ile) rs536607503 0.00002
NM_004369.4(COL6A3):c.9041C>T (p.Pro3014Leu) rs758774990 0.00002
NM_004369.4(COL6A3):c.1006C>T (p.Arg336Trp) rs200720222 0.00001
NM_004369.4(COL6A3):c.1587A>G (p.Leu529=) rs574912582 0.00001
NM_004369.4(COL6A3):c.2665C>T (p.Arg889Cys) rs201327438 0.00001
NM_004369.4(COL6A3):c.2845G>A (p.Ala949Thr) rs374960915 0.00001
NM_004369.4(COL6A3):c.3271G>A (p.Val1091Ile) rs373915980 0.00001
NM_004369.4(COL6A3):c.3893C>T (p.Ala1298Val) rs570869775 0.00001
NM_004369.4(COL6A3):c.5252C>T (p.Thr1751Met) rs201147199 0.00001
NM_004369.4(COL6A3):c.5547G>C (p.Gln1849His) rs201313985 0.00001
NM_004369.4(COL6A3):c.6506C>G (p.Pro2169Arg) rs532433812 0.00001
NM_004369.4(COL6A3):c.6859C>T (p.Arg2287Trp) rs751115326 0.00001
NM_004369.4(COL6A3):c.7984G>A (p.Ala2662Thr) rs749100905 0.00001
NM_004369.4(COL6A3):c.8584G>A (p.Val2862Ile) rs371745862 0.00001
NM_004369.4(COL6A3):c.8645C>T (p.Pro2882Leu) rs112178393 0.00001
NM_004369.4(COL6A3):c.9012C>T (p.Ser3004=) rs199519571 0.00001
NM_004369.4(COL6A3):c.9032G>T (p.Arg3011Met) rs757374995 0.00001
NM_004369.4(COL6A3):c.9043C>T (p.Pro3015Ser) rs529079748 0.00001
NM_004369.4(COL6A3):c.9180C>G (p.Cys3060Trp) rs376939353 0.00001
NM_004369.4(COL6A3):c.1021C>T (p.Arg341Cys)
NM_004369.4(COL6A3):c.1228G>A (p.Asp410Asn) rs35914491
NM_004369.4(COL6A3):c.1548G>A (p.Lys516=)
NM_004369.4(COL6A3):c.1593T>C (p.Phe531=)
NM_004369.4(COL6A3):c.1631G>T (p.Arg544Leu)
NM_004369.4(COL6A3):c.1898-17dup rs750049890
NM_004369.4(COL6A3):c.2180A>G (p.Tyr727Cys) rs113393241
NM_004369.4(COL6A3):c.2218C>T (p.Arg740Cys) rs147182340
NM_004369.4(COL6A3):c.2226C>A (p.His742Gln)
NM_004369.4(COL6A3):c.2488G>T (p.Ala830Ser) rs77181645
NM_004369.4(COL6A3):c.251A>G (p.Asn84Ser)
NM_004369.4(COL6A3):c.2879C>G (p.Ala960Gly) rs543253703
NM_004369.4(COL6A3):c.3009A>T (p.Gly1003=) rs769667715
NM_004369.4(COL6A3):c.3132C>T (p.Phe1044=)
NM_004369.4(COL6A3):c.3648G>A (p.Leu1216=)
NM_004369.4(COL6A3):c.3922C>T (p.Arg1308Trp) rs140330124
NM_004369.4(COL6A3):c.3963G>A (p.Arg1321=)
NM_004369.4(COL6A3):c.4311T>C (p.Ile1437=) rs2646260
NM_004369.4(COL6A3):c.4493C>T (p.Pro1498Leu)
NM_004369.4(COL6A3):c.4678G>A (p.Ala1560Thr) rs371631320
NM_004369.4(COL6A3):c.4678G>T (p.Ala1560Ser)
NM_004369.4(COL6A3):c.5678C>A (p.Thr1893Lys) rs143389941
NM_004369.4(COL6A3):c.5879C>T (p.Ala1960Val)
NM_004369.4(COL6A3):c.6063+12_6063+13dup rs11385011
NM_004369.4(COL6A3):c.6063+13dup rs11385011
NM_004369.4(COL6A3):c.6931-10dup rs2106328779
NM_004369.4(COL6A3):c.7093-5dup rs751423264
NM_004369.4(COL6A3):c.710-20dup rs759721812
NM_004369.4(COL6A3):c.7131T>C (p.Cys2377=)
NM_004369.4(COL6A3):c.7163-5del
NM_004369.4(COL6A3):c.7645C>T (p.Arg2549Trp) rs151079701
NM_004369.4(COL6A3):c.8075A>G (p.Tyr2692Cys)
NM_004369.4(COL6A3):c.8465-7del rs111494366
NM_004369.4(COL6A3):c.8465-7dup rs111494366
NM_004369.4(COL6A3):c.8491G>C (p.Asp2831His) rs36104025
NM_004369.4(COL6A3):c.8670_8690del (p.2878TTTKPVT[2]) rs746284792
NM_004369.4(COL6A3):c.8868TGC[3] (p.Ala2960del) rs35879189
NM_004369.4(COL6A3):c.8966-19G>T rs182520636
NM_004369.4(COL6A3):c.9000A>G (p.Ile3000Met)
NM_004369.4(COL6A3):c.9031A>G (p.Arg3011Gly) rs565996170
NM_004369.4(COL6A3):c.9049C>A (p.Pro3017Thr) rs767249760
NM_004369.4(COL6A3):c.92-5dup rs1476890625
NM_004369.4(COL6A3):c.92-6_92-5del rs1476890625
NM_004369.4(COL6A3):c.927G>A (p.Val309=)

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