ClinVar Miner

List of variants in gene COL7A1 reported as uncertain significance by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 199
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.3605G>A (p.Arg1202His) rs149011081 0.00166
NM_000094.4(COL7A1):c.1613G>A (p.Arg538His) rs138791004 0.00138
NM_000094.4(COL7A1):c.2367C>T (p.Ser789=) rs139521707 0.00121
NM_000094.4(COL7A1):c.8371C>T (p.Arg2791Trp) rs142566193 0.00109
NM_000094.4(COL7A1):c.5819C>T (p.Pro1940Leu) rs149267939 0.00098
NM_000094.4(COL7A1):c.8568C>T (p.Ser2856=) rs148454724 0.00093
NM_000094.4(COL7A1):c.7353T>C (p.Pro2451=) rs139461888 0.00077
NM_000094.4(COL7A1):c.13C>G (p.Leu5Val) rs201242396 0.00063
NM_000094.4(COL7A1):c.5217T>A (p.Pro1739=) rs147611409 0.00061
NM_000094.4(COL7A1):c.5343C>T (p.Ser1781=) rs147919436 0.00057
NM_000094.4(COL7A1):c.8504G>A (p.Arg2835His) rs139014122 0.00057
NM_000094.4(COL7A1):c.4818+11G>A rs199647542 0.00056
NM_000094.4(COL7A1):c.1098G>A (p.Gly366=) rs150776274 0.00055
NM_000094.4(COL7A1):c.810G>A (p.Thr270=) rs138770708 0.00052
NM_000094.4(COL7A1):c.5572G>A (p.Glu1858Lys) rs147633212 0.00050
NM_000094.4(COL7A1):c.5769G>A (p.Glu1923=) rs143843471 0.00046
NM_000094.4(COL7A1):c.592G>A (p.Val198Ile) rs147177277 0.00044
NM_000094.4(COL7A1):c.2544C>T (p.Val848=) rs139545952 0.00041
NM_000094.4(COL7A1):c.1411T>C (p.Leu471=) rs139564795 0.00039
NM_000094.4(COL7A1):c.2106C>T (p.Val702=) rs75551775 0.00039
NM_000094.4(COL7A1):c.5930G>T (p.Arg1977Leu) rs182669506 0.00038
NM_000094.4(COL7A1):c.4585C>T (p.Arg1529Cys) rs144557024 0.00034
NM_000094.4(COL7A1):c.8541T>C (p.Pro2847=) rs79473918 0.00034
NM_000094.4(COL7A1):c.2993-13C>G rs371738291 0.00032
NM_000094.4(COL7A1):c.1348C>T (p.Arg450Cys) rs139434755 0.00026
NM_000094.4(COL7A1):c.2997G>A (p.Val999=) rs369633742 0.00026
NM_000094.4(COL7A1):c.7124T>A (p.Val2375Asp) rs142059751 0.00026
NM_000094.4(COL7A1):c.8240C>T (p.Pro2747Leu) rs139566877 0.00023
NM_000094.4(COL7A1):c.923T>C (p.Ile308Thr) rs145738101 0.00021
NM_000094.4(COL7A1):c.7758+10G>A rs371927547 0.00019
NM_000094.4(COL7A1):c.1495G>A (p.Val499Met) rs201877942 0.00018
NM_000094.4(COL7A1):c.2146A>G (p.Arg716Gly) rs143040168 0.00018
NM_000094.4(COL7A1):c.6502-10C>G rs200193957 0.00018
NM_000094.4(COL7A1):c.5086C>T (p.Arg1696Cys) rs2229820 0.00016
NM_000094.4(COL7A1):c.7793C>T (p.Pro2598Leu) rs200138839 0.00016
NM_000094.4(COL7A1):c.2662G>C (p.Glu888Gln) rs200523730 0.00015
NM_000094.4(COL7A1):c.59G>C (p.Arg20Pro) rs755340663 0.00015
NM_000094.4(COL7A1):c.630C>T (p.Leu210=) rs117857033 0.00015
NM_000094.4(COL7A1):c.3840C>T (p.Thr1280=) rs369839378 0.00014
NM_000094.4(COL7A1):c.5052+15A>G rs377568216 0.00014
NM_000094.4(COL7A1):c.7217C>T (p.Pro2406Leu) rs144788938 0.00014
NM_000094.4(COL7A1):c.7510C>T (p.Arg2504Cys) rs201897441 0.00014
NM_000094.4(COL7A1):c.2277C>T (p.Gly759=) rs144756110 0.00013
NM_000094.4(COL7A1):c.4780C>T (p.Arg1594Trp) rs267599859 0.00012
NM_000094.4(COL7A1):c.3232C>T (p.Arg1078Cys) rs149154108 0.00011
NM_000094.4(COL7A1):c.3760-10C>G rs200169440 0.00011
NM_000094.4(COL7A1):c.4889G>A (p.Arg1630Gln) rs201196696 0.00011
NM_000094.4(COL7A1):c.2392G>A (p.Gly798Arg) rs202237834 0.00010
NM_000094.4(COL7A1):c.2969G>A (p.Arg990Gln) rs568498471 0.00010
NM_000094.4(COL7A1):c.4485C>T (p.Gly1495=) rs367958901 0.00010
NM_000094.4(COL7A1):c.520+9C>T rs368959634 0.00010
NM_000094.4(COL7A1):c.543G>A (p.Glu181=) rs372458548 0.00010
NM_000094.4(COL7A1):c.5820G>A (p.Pro1940=) rs200972872 0.00010
NM_000094.4(COL7A1):c.6081C>T (p.Pro2027=) rs375047225 0.00010
NM_000094.4(COL7A1):c.8095G>A (p.Glu2699Lys) rs200938473 0.00010
NM_000094.4(COL7A1):c.3343G>C (p.Gly1115Arg) rs200235451 0.00009
NM_000094.4(COL7A1):c.5605-15C>T rs200309694 0.00009
NM_000094.4(COL7A1):c.6394-9T>C rs374698863 0.00009
NM_000094.4(COL7A1):c.6572C>T (p.Pro2191Leu) rs140543032 0.00009
NM_000094.4(COL7A1):c.7674C>T (p.Asp2558=) rs201140493 0.00009
NM_000094.4(COL7A1):c.4944G>A (p.Pro1648=) rs111360822 0.00008
NM_000094.4(COL7A1):c.5726C>T (p.Thr1909Met) rs201719223 0.00008
NM_000094.4(COL7A1):c.7037G>A (p.Arg2346His) rs201432371 0.00008
NM_000094.4(COL7A1):c.7380+8G>A rs560853464 0.00008
NM_000094.4(COL7A1):c.8779C>T (p.Arg2927Cys) rs150635097 0.00008
NM_000094.4(COL7A1):c.4000C>T (p.Arg1334Cys) rs141720633 0.00007
NM_000094.4(COL7A1):c.6435G>A (p.Pro2145=) rs143458723 0.00007
NM_000094.4(COL7A1):c.1070G>A (p.Arg357His) rs368155479 0.00006
NM_000094.4(COL7A1):c.2431C>T (p.Arg811Trp) rs551951844 0.00006
NM_000094.4(COL7A1):c.3566T>C (p.Met1189Thr) rs371470848 0.00006
NM_000094.4(COL7A1):c.447C>T (p.Asp149=) rs372585819 0.00006
NM_000094.4(COL7A1):c.4560T>A (p.Pro1520=) rs142686837 0.00006
NM_000094.4(COL7A1):c.5368G>A (p.Ala1790Thr) rs780506505 0.00006
NM_000094.4(COL7A1):c.761C>T (p.Ala254Val) rs201916805 0.00006
NM_000094.4(COL7A1):c.8064C>T (p.Asp2688=) rs546054756 0.00006
NM_000094.4(COL7A1):c.893G>A (p.Arg298Gln) rs200892831 0.00006
NM_000094.4(COL7A1):c.1062T>C (p.Thr354=) rs201697063 0.00005
NM_000094.4(COL7A1):c.314G>A (p.Arg105His) rs370534336 0.00005
NM_000094.4(COL7A1):c.5384C>T (p.Pro1795Leu) rs746987799 0.00005
NM_000094.4(COL7A1):c.7050C>T (p.Pro2350=) rs773855741 0.00005
NM_000094.4(COL7A1):c.7120G>A (p.Gly2374Arg) rs181430415 0.00005
NM_000094.4(COL7A1):c.1468G>A (p.Gly490Ser) rs143372872 0.00004
NM_000094.4(COL7A1):c.1473C>T (p.His491=) rs201847088 0.00004
NM_000094.4(COL7A1):c.1625G>A (p.Arg542His) rs143991798 0.00004
NM_000094.4(COL7A1):c.1777C>T (p.Arg593Trp) rs202239292 0.00004
NM_000094.4(COL7A1):c.3412G>A (p.Val1138Met) rs145048666 0.00004
NM_000094.4(COL7A1):c.427-14T>C rs552110604 0.00004
NM_000094.4(COL7A1):c.4509G>A (p.Ala1503=) rs748294033 0.00004
NM_000094.4(COL7A1):c.4561G>C (p.Glu1521Gln) rs373745858 0.00004
NM_000094.4(COL7A1):c.4704C>T (p.Thr1568=) rs573530168 0.00004
NM_000094.4(COL7A1):c.5097G>A (p.Pro1699=) rs369034739 0.00004
NM_000094.4(COL7A1):c.663C>T (p.Gly221=) rs367607652 0.00004
NM_000094.4(COL7A1):c.7048C>T (p.Pro2350Ser) rs749870307 0.00004
NM_000094.4(COL7A1):c.7689C>T (p.Gly2563=) rs779995041 0.00004
NM_000094.4(COL7A1):c.8000C>T (p.Pro2667Leu) rs377015274 0.00004
NM_000094.4(COL7A1):c.8206G>A (p.Glu2736Lys) rs779942952 0.00004
NM_000094.4(COL7A1):c.8290G>A (p.Glu2764Lys) rs141883531 0.00004
NM_000094.4(COL7A1):c.1370C>T (p.Pro457Leu) rs200396882 0.00003
NM_000094.4(COL7A1):c.1624C>T (p.Arg542Cys) rs780602305 0.00003
NM_000094.4(COL7A1):c.2887C>T (p.Arg963Cys) rs773083989 0.00003
NM_000094.4(COL7A1):c.3999T>C (p.Pro1333=) rs756134134 0.00003
NM_000094.4(COL7A1):c.4329G>T (p.Lys1443Asn) rs752495777 0.00003
NM_000094.4(COL7A1):c.4782+9A>T rs369635501 0.00003
NM_000094.4(COL7A1):c.5605-14T>C rs749961187 0.00003
NM_000094.4(COL7A1):c.5772+11C>T rs375161918 0.00003
NM_000094.4(COL7A1):c.6293A>C (p.Glu2098Ala) rs886058635 0.00003
NM_000094.4(COL7A1):c.638G>A (p.Arg213Gln) rs62261469 0.00003
NM_000094.4(COL7A1):c.6978+8G>A rs187312469 0.00003
NM_000094.4(COL7A1):c.8054G>C (p.Arg2685Pro) rs886058630 0.00003
NM_000094.4(COL7A1):c.8783G>A (p.Arg2928His) rs758740269 0.00003
NM_000094.4(COL7A1):c.1785G>A (p.Pro595=) rs749549682 0.00002
NM_000094.4(COL7A1):c.2376A>G (p.Leu792=) rs754120044 0.00002
NM_000094.4(COL7A1):c.2596G>T (p.Ala866Ser) rs779814851 0.00002
NM_000094.4(COL7A1):c.2645C>T (p.Ser882Leu) rs372767169 0.00002
NM_000094.4(COL7A1):c.3182C>T (p.Ala1061Val) rs553468091 0.00002
NM_000094.4(COL7A1):c.3753T>C (p.Cys1251=) rs764349883 0.00002
NM_000094.4(COL7A1):c.5087G>A (p.Arg1696His) rs749128852 0.00002
NM_000094.4(COL7A1):c.5350G>C (p.Asp1784His) rs200632851 0.00002
NM_000094.4(COL7A1):c.5771A>T (p.Gln1924Leu) rs746824716 0.00002
NM_000094.4(COL7A1):c.5913G>T (p.Leu1971=) rs754578634 0.00002
NM_000094.4(COL7A1):c.5927G>A (p.Arg1976Gln) rs982433923 0.00002
NM_000094.4(COL7A1):c.7068+5G>A rs779875751 0.00002
NM_000094.4(COL7A1):c.707G>A (p.Arg236Gln) rs773361013 0.00002
NM_000094.4(COL7A1):c.7196C>T (p.Ala2399Val) rs751885031 0.00002
NM_000094.4(COL7A1):c.7521+9G>A rs769808777 0.00002
NM_000094.4(COL7A1):c.8227-9G>A rs766585624 0.00002
NM_000094.4(COL7A1):c.8407+10G>A rs754593655 0.00002
NM_000094.4(COL7A1):c.158A>G (p.Asn53Ser) rs772466271 0.00001
NM_000094.4(COL7A1):c.219T>C (p.Ser73=) rs762065822 0.00001
NM_000094.4(COL7A1):c.2888G>A (p.Arg963His) rs776204399 0.00001
NM_000094.4(COL7A1):c.3724-4G>A rs374283437 0.00001
NM_000094.4(COL7A1):c.3875C>T (p.Ala1292Val) rs776493858 0.00001
NM_000094.4(COL7A1):c.4048-15T>A rs367995901 0.00001
NM_000094.4(COL7A1):c.4119+11G>A rs202225012 0.00001
NM_000094.4(COL7A1):c.4540C>T (p.Arg1514Cys) rs1170025132 0.00001
NM_000094.4(COL7A1):c.4615C>T (p.Pro1539Ser) rs775437783 0.00001
NM_000094.4(COL7A1):c.5098-5C>T rs886058637 0.00001
NM_000094.4(COL7A1):c.5315G>A (p.Arg1772Gln) rs1016459702 0.00001
NM_000094.4(COL7A1):c.6113A>G (p.Lys2038Arg) rs749235923 0.00001
NM_000094.4(COL7A1):c.61G>C (p.Val21Leu) rs377112899 0.00001
NM_000094.4(COL7A1):c.6457-11A>G rs776269680 0.00001
NM_000094.4(COL7A1):c.6465A>G (p.Pro2155=) rs1266041812 0.00001
NM_000094.4(COL7A1):c.6884C>T (p.Thr2295Met) rs757102252 0.00001
NM_000094.4(COL7A1):c.7164+10T>C rs781780574 0.00001
NM_000094.4(COL7A1):c.7204G>A (p.Val2402Ile) rs761576147 0.00001
NM_000094.4(COL7A1):c.7581G>A (p.Gly2527=) rs530291076 0.00001
NM_000094.4(COL7A1):c.8108G>A (p.Arg2703Gln) rs886058629 0.00001
NM_000094.4(COL7A1):c.8280A>G (p.Gly2760=) rs374365287 0.00001
NM_000094.4(COL7A1):c.8353C>T (p.Leu2785=) rs780130738 0.00001
NM_000094.4(COL7A1):c.8611G>A (p.Asp2871Asn) rs746146532 0.00001
NM_000094.4(COL7A1):c.*105C>T rs377441767
NM_000094.4(COL7A1):c.*162C>A rs545650545
NM_000094.4(COL7A1):c.*270G>T rs2043503119
NM_000094.4(COL7A1):c.*40A>T rs886058627
NM_000094.4(COL7A1):c.*87G>A rs1575413305
NM_000094.4(COL7A1):c.1043G>T (p.Arg348Leu) rs200570283
NM_000094.4(COL7A1):c.1357+8C>A rs368098361
NM_000094.4(COL7A1):c.1525A>G (p.Ser509Gly) rs2045702958
NM_000094.4(COL7A1):c.1649C>A (p.Thr550Asn) rs2045638560
NM_000094.4(COL7A1):c.1844G>T (p.Arg615Met) rs2045617671
NM_000094.4(COL7A1):c.1969C>T (p.Pro657Ser) rs886058641
NM_000094.4(COL7A1):c.2380A>T (p.Ile794Phe) rs2045492250
NM_000094.4(COL7A1):c.2442C>T (p.Gly814=) rs546082340
NM_000094.4(COL7A1):c.2791C>T (p.Arg931Cys) rs143979792
NM_000094.4(COL7A1):c.3224T>C (p.Val1075Ala) rs2045316478
NM_000094.4(COL7A1):c.3233G>A (p.Arg1078His) rs748471791
NM_000094.4(COL7A1):c.3551-5C>T rs879213218
NM_000094.4(COL7A1):c.4100A>C (p.Lys1367Thr) rs2045073283
NM_000094.4(COL7A1):c.4217G>T (p.Gly1406Val) rs2045010838
NM_000094.4(COL7A1):c.4388C>T (p.Ser1463Phe) rs886058640
NM_000094.4(COL7A1):c.4427T>C (p.Ile1476Thr) rs2044930168
NM_000094.4(COL7A1):c.4437+5G>A rs886058639
NM_000094.4(COL7A1):c.4810G>C (p.Gly1604Arg) rs1560234201
NM_000094.4(COL7A1):c.4814C>A (p.Pro1605His) rs746038868
NM_000094.4(COL7A1):c.4927G>A (p.Gly1643Ser) rs886058638
NM_000094.4(COL7A1):c.5041G>T (p.Asp1681Tyr) rs2044679313
NM_000094.4(COL7A1):c.5058C>T (p.Ser1686=) rs144700737
NM_000094.4(COL7A1):c.5202T>C (p.Gly1734=) rs2044586502
NM_000094.4(COL7A1):c.5926C>T (p.Arg1976Trp) rs143307229
NM_000094.4(COL7A1):c.5933G>C (p.Arg1978Pro) rs754315799
NM_000094.4(COL7A1):c.6036C>G (p.Gly2012=) rs886058636
NM_000094.4(COL7A1):c.6094C>T (p.Leu2032Phe) rs778250514
NM_000094.4(COL7A1):c.6177G>C (p.Glu2059Asp) rs2044219862
NM_000094.4(COL7A1):c.6619-12G>T rs886058634
NM_000094.4(COL7A1):c.717G>A (p.Val239=) rs777003245
NM_000094.4(COL7A1):c.7191C>T (p.Pro2397=) rs34360255
NM_000094.4(COL7A1):c.724G>A (p.Glu242Lys) rs549872555
NM_000094.4(COL7A1):c.7273G>T (p.Gly2425Cys) rs886058633
NM_000094.4(COL7A1):c.7408C>A (p.Pro2470Thr) rs886058632
NM_000094.4(COL7A1):c.7686+9A>G rs368187472
NM_000094.4(COL7A1):c.7929+3A>T rs886058631
NM_000094.4(COL7A1):c.8227-3C>T rs761592627
NM_000094.4(COL7A1):c.8244C>T (p.Pro2748=) rs749575902
NM_000094.4(COL7A1):c.8444C>T (p.Pro2815Leu) rs2043563684
NM_000094.4(COL7A1):c.8485C>T (p.His2829Tyr) rs2043561757
NM_000094.4(COL7A1):c.8631C>A (p.Ser2877=) rs886058628
NM_000094.4(COL7A1):c.888T>C (p.Gly296=) rs1575492483
NM_000094.4(COL7A1):c.941G>T (p.Ser314Ile) rs1025287667
NM_000094.4(COL7A1):c.946G>C (p.Gly316Arg) rs776344680

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.