ClinVar Miner

List of variants in gene COL6A1 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 148
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001848.3(COL6A1):c.1002+37A>G rs11702174 0.05344
NM_001848.3(COL6A1):c.1823-31C>T rs117330552 0.02707
NM_001848.3(COL6A1):c.804+163del rs66912886 0.02472
NM_001848.3(COL6A1):c.2435-78G>A rs76087328 0.02442
NM_001848.3(COL6A1):c.1776+249_1776+250insAA rs1569518898 0.01693
NM_001848.3(COL6A1):c.859-213G>T rs149709694 0.01565
NM_001848.3(COL6A1):c.1814-67_1814-66insG rs145985004 0.01393
NM_001848.3(COL6A1):c.428+131C>T rs111272310 0.01367
NM_001848.3(COL6A1):c.717+32C>T rs114454809 0.01179
NM_001848.3(COL6A1):c.*87C>T rs115289817 0.01156
NM_001848.3(COL6A1):c.1003-149C>T rs146559275 0.01133
NM_001848.3(COL6A1):c.1335+164G>A rs143550568 0.01034
NM_001848.3(COL6A1):c.*294G>A rs112057581 0.01013
NM_001848.3(COL6A1):c.429-321G>A rs73374779 0.00991
NM_001848.3(COL6A1):c.1524+176C>A rs9976436 0.00946
NM_001848.3(COL6A1):c.1336-184C>T rs139314681 0.00921
NM_001848.3(COL6A1):c.227+239C>T rs116551259 0.00880
NM_001848.3(COL6A1):c.805-36G>A rs202231424 0.00830
NM_001848.3(COL6A1):c.228-57G>A rs79487056 0.00826
NM_001848.3(COL6A1):c.1823-183C>T rs551989316 0.00798
NM_001848.3(COL6A1):c.1822+70C>T rs137917255 0.00783
NM_001848.2(COL6A1):c.-368C>T rs188909662 0.00757
NM_001848.3(COL6A1):c.428+253A>G rs28373239 0.00748
NM_001848.3(COL6A1):c.958-38C>T rs114745673 0.00700
NM_001848.3(COL6A1):c.1398+171G>A rs114591899 0.00684
NM_001848.3(COL6A1):c.429-184A>C rs9983909 0.00663
NM_001848.3(COL6A1):c.429-30C>T rs190029634 0.00621
NM_001848.3(COL6A1):c.429-95G>A rs138191621 0.00585
NM_001848.3(COL6A1):c.2434+117G>A rs148827769 0.00560
NM_001848.3(COL6A1):c.1741-137C>T rs8130726 0.00545
NM_001848.3(COL6A1):c.1399-210C>T rs146034711 0.00530
NM_001848.3(COL6A1):c.589-53C>A rs149391064 0.00525
NM_001848.3(COL6A1):c.2435-132C>T rs117583870 0.00523
NM_001848.3(COL6A1):c.228-151C>G rs184515573 0.00500
NM_001848.3(COL6A1):c.1776+224_1776+225insA rs1569518881 0.00490
NM_001848.3(COL6A1):c.1272+98T>C rs150780004 0.00458
NM_001848.3(COL6A1):c.930+30T>C rs148909683 0.00416
NM_001848.3(COL6A1):c.1335+20G>C rs9306146 0.00401
NM_001848.3(COL6A1):c.1525-74C>A rs147683603 0.00389
NM_001848.3(COL6A1):c.1957-199G>A rs184597057 0.00379
NM_001848.3(COL6A1):c.1957-284A>G rs142763700 0.00369
NM_001848.3(COL6A1):c.1814-53G>T rs370649253 0.00365
NM_001848.3(COL6A1):c.2435-129C>T rs376896931 0.00364
NM_001848.3(COL6A1):c.2465-78C>T rs372700572 0.00357
NM_001848.3(COL6A1):c.429-276G>A rs113990069 0.00354
NM_001848.3(COL6A1):c.1335+139G>A rs536513841 0.00352
NM_001848.3(COL6A1):c.2742C>T (p.Thr914=) rs115163637 0.00349
NM_001848.3(COL6A1):c.1956+286T>G rs148511101 0.00344
NM_001848.3(COL6A1):c.1740+156C>T rs578072539 0.00339
NM_001848.3(COL6A1):c.1398+236C>T rs182762238 0.00332
NM_001848.3(COL6A1):c.1675-40G>A rs185926965 0.00329
NM_001848.3(COL6A1):c.2435-165G>A rs373480489 0.00321
NM_001848.3(COL6A1):c.1518T>C (p.Gly506=) rs35134265 0.00313
NM_001848.3(COL6A1):c.1182+3G>A rs62215499 0.00310
NM_001848.3(COL6A1):c.2465-61C>T rs367659906 0.00302
NM_001848.3(COL6A1):c.2067-10T>C rs200727020 0.00299
NM_001848.3(COL6A1):c.1612-6C>T rs143812383 0.00296
NC_000021.9:g.45981727G>A rs538198495 0.00219
NM_001848.3(COL6A1):c.1298G>A (p.Arg433Gln) rs151158105 0.00200
NM_001848.3(COL6A1):c.2250+6G>C rs202212586 0.00195
NM_001848.3(COL6A1):c.324C>T (p.Gly108=) rs138646508 0.00194
NM_001848.3(COL6A1):c.1336-15C>T rs201003020 0.00174
NM_001848.3(COL6A1):c.1833C>T (p.Cys611=) rs142554239 0.00167
NM_001848.3(COL6A1):c.2517C>T (p.Ser839=) rs141463437 0.00163
NM_001848.3(COL6A1):c.588+8C>G rs398123638 0.00144
NM_001848.3(COL6A1):c.105C>G (p.Pro35=) rs145579577 0.00143
NM_001848.3(COL6A1):c.1644C>T (p.Asp548=) rs182425338 0.00140
NM_001848.3(COL6A1):c.1776C>T (p.Asp592=) rs148439285 0.00135
NM_001848.3(COL6A1):c.2049C>T (p.Asn683=) rs143695871 0.00132
NM_001848.3(COL6A1):c.2469G>A (p.Thr823=) rs146662894 0.00112
NM_001848.3(COL6A1):c.2758C>T (p.Leu920=) rs141620374 0.00110
NM_001848.3(COL6A1):c.1336-17G>A rs185337381 0.00103
NM_001848.3(COL6A1):c.2642C>T (p.Thr881Met) rs150432347 0.00081
NM_001848.3(COL6A1):c.350T>C (p.Val117Ala) rs138899581 0.00080
NM_001848.3(COL6A1):c.381C>T (p.Thr127=) rs75180385 0.00078
NM_001848.3(COL6A1):c.981C>T (p.Ile327=) rs138401567 0.00068
NM_001848.3(COL6A1):c.2809A>G (p.Lys937Glu) rs117583120 0.00061
NM_001848.3(COL6A1):c.997G>A (p.Val333Met) rs201525908 0.00052
NM_001848.3(COL6A1):c.1350G>A (p.Pro450=) rs144887329 0.00051
NM_001848.3(COL6A1):c.349G>A (p.Val117Met) rs150686304 0.00038
NM_001848.3(COL6A1):c.2187C>T (p.Asp729=) rs369502543 0.00034
NM_001848.3(COL6A1):c.1675-16C>T rs200659458 0.00033
NM_001848.3(COL6A1):c.666C>T (p.Arg222=) rs372581026 0.00032
NM_001848.3(COL6A1):c.1399-3C>T rs200095847 0.00029
NM_001848.3(COL6A1):c.1602C>T (p.Pro534=) rs143755280 0.00026
NM_001848.3(COL6A1):c.2856C>T (p.Pro952=) rs140427635 0.00025
NM_001848.3(COL6A1):c.2601C>T (p.Pro867=) rs200124802 0.00020
NM_001848.3(COL6A1):c.3034C>T (p.Leu1012=) rs150509473 0.00017
NM_001848.3(COL6A1):c.1398+10G>A rs143438559 0.00016
NM_001848.3(COL6A1):c.1475C>T (p.Ala492Val) rs117340427 0.00016
NM_001848.3(COL6A1):c.1665C>T (p.Pro555=) rs369802454 0.00014
NM_001848.3(COL6A1):c.3078G>A (p.Ala1026=) rs190043330 0.00014
NM_001848.3(COL6A1):c.348C>T (p.Ser116=) rs189444981 0.00014
NM_001848.3(COL6A1):c.1461+34C>G rs571928860 0.00013
NM_001848.3(COL6A1):c.1462-19G>A rs191393017 0.00011
NM_001848.3(COL6A1):c.2622G>A (p.Ala874=) rs371763977 0.00011
NM_001848.3(COL6A1):c.227+15C>T rs199730779 0.00009
NM_001848.3(COL6A1):c.2464+9C>T rs368651226 0.00008
NM_001848.3(COL6A1):c.1462-8C>T rs199849694 0.00006
NM_001848.3(COL6A1):c.2348G>A (p.Arg783Gln) rs200261890 0.00006
NM_001848.3(COL6A1):c.1119+13C>T rs199655304 0.00004
NM_001848.3(COL6A1):c.1656C>T (p.Ala552=) rs377213930 0.00004
NM_001848.3(COL6A1):c.1957-17C>T rs370007363 0.00004
NM_001848.3(COL6A1):c.2109G>A (p.Thr703=) rs760649238 0.00004
NM_001848.3(COL6A1):c.2148G>A (p.Pro716=) rs780032842 0.00004
NM_001848.3(COL6A1):c.510G>A (p.Gly170=) rs373970248 0.00004
NM_001848.3(COL6A1):c.588+9C>T rs776935888 0.00004
NM_001848.3(COL6A1):c.1272+11C>T rs371785147 0.00003
NM_001848.3(COL6A1):c.1611+9G>A rs186975997 0.00002
NM_001848.3(COL6A1):c.1941G>A (p.Arg647=) rs139914666 0.00002
NM_001848.3(COL6A1):c.859-18T>A rs398123641 0.00002
NM_001848.3(COL6A1):c.1236+14C>T rs372483312 0.00001
NM_001848.3(COL6A1):c.1782C>T (p.Cys594=) rs745847824 0.00001
NM_001848.3(COL6A1):c.2298A>G (p.Ser766=) rs761665024 0.00001
NM_001848.3(COL6A1):c.2505C>T (p.Asp835=) rs569497612 0.00001
NM_001848.3(COL6A1):c.2670G>A (p.Ser890=) rs527265374 0.00001
NM_001848.3(COL6A1):c.615G>A (p.Thr205=) rs192125814 0.00001
NC_000021.9:g.45981584G>C rs933667986
NC_000021.9:g.45981589G>C rs982382690
NC_000021.9:g.45981594T>C rs1203435796
NC_000021.9:g.45981599T>C rs1295578181
NC_000021.9:g.45981609C>A rs186342882
NM_001848.3(COL6A1):c.1002+50C>A rs11702079
NM_001848.3(COL6A1):c.1119+19del rs750949530
NM_001848.3(COL6A1):c.1336-288G>A rs142493024
NM_001848.3(COL6A1):c.1524+112G>A rs139252296
NM_001848.3(COL6A1):c.1524+19G>A rs2276256
NM_001848.3(COL6A1):c.1776+173_1776+174insAGATCATAGGGGGAACGTGTGA rs1189768702
NM_001848.3(COL6A1):c.1776+223_1776+224insA rs879057227
NM_001848.3(COL6A1):c.1777-282del rs1466813683
NM_001848.3(COL6A1):c.1777-282dup rs1466813683
NM_001848.3(COL6A1):c.1887G>A (p.Gln629=) rs1447613750
NM_001848.3(COL6A1):c.2066+15C>A rs201407082
NM_001848.3(COL6A1):c.2220G>T (p.Pro740=) rs138976133
NM_001848.3(COL6A1):c.2250+19G>C rs1057521436
NM_001848.3(COL6A1):c.227+157_227+225dup rs2123460524
NM_001848.3(COL6A1):c.2434+116_2434+156del rs1390650817
NM_001848.3(COL6A1):c.2434+15_2434+54del rs1064795349
NM_001848.3(COL6A1):c.2464+70C>T rs2236489
NM_001848.3(COL6A1):c.423C>A (p.Leu141=) rs373486149
NM_001848.3(COL6A1):c.428+39C>G rs148766287
NM_001848.3(COL6A1):c.739-11del rs573196191
NM_001848.3(COL6A1):c.760-11C>T rs1556425140
NM_001848.3(COL6A1):c.804+139_804+162del rs1187271844
NM_001848.3(COL6A1):c.930+20G>C rs765683206
NM_001848.3(COL6A1):c.931-103G>A rs73374789
NM_001848.3(COL6A1):c.97+167C>G rs529329294
NM_001848.3(COL6A1):c.98-239C>G rs149338636

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.