ClinVar Miner

List of variants studied for Epidermolysis bullosa dystrophica by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 250
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HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.2817A>G (p.Pro939=) rs1264194 0.74947
NM_000094.4(COL7A1):c.3139+12G>A rs2255532 0.46226
NM_000094.4(COL7A1):c.1784C>T (p.Pro595Leu) rs2228561 0.09897
NM_000094.4(COL7A1):c.3830C>T (p.Pro1277Leu) rs35761247 0.03954
NM_000094.4(COL7A1):c.2314+15G>A rs144483183 0.02210
NM_000094.4(COL7A1):c.3975+11C>T rs7637885 0.01719
NM_000094.4(COL7A1):c.*65T>C rs74780677 0.01462
NM_000094.4(COL7A1):c.89C>T (p.Thr30Ile) rs74453879 0.01453
NM_000094.4(COL7A1):c.6696C>A (p.Pro2232=) rs61729223 0.01181
NM_000094.4(COL7A1):c.4483-11T>C rs74390291 0.00781
NM_000094.4(COL7A1):c.6217-6C>T rs191559835 0.00648
NM_000094.4(COL7A1):c.5590G>A (p.Ala1864Thr) rs17080261 0.00636
NM_000094.4(COL7A1):c.7286C>T (p.Pro2429Leu) rs2229822 0.00472
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val) rs116005007 0.00425
NM_000094.4(COL7A1):c.4613G>A (p.Arg1538His) rs2229824 0.00408
NM_000094.4(COL7A1):c.1628G>A (p.Ser543Asn) rs76410546 0.00401
NM_000094.4(COL7A1):c.5307+7G>C rs116455408 0.00347
NM_000094.4(COL7A1):c.54G>C (p.Ala18=) rs35899847 0.00343
NM_000094.4(COL7A1):c.6654C>G (p.Gly2218=) rs151111203 0.00322
NM_000094.4(COL7A1):c.5154+5T>C rs2854400 0.00317
NM_000094.4(COL7A1):c.4612C>T (p.Arg1538Cys) rs149711883 0.00288
NM_000094.4(COL7A1):c.3359G>A (p.Arg1120Lys) rs2228563 0.00287
NM_000094.4(COL7A1):c.802C>T (p.Pro268Ser) rs35623035 0.00285
NM_000094.4(COL7A1):c.5259C>T (p.Pro1753=) rs151261530 0.00267
NM_000094.4(COL7A1):c.5988C>T (p.Ile1996=) rs146901730 0.00220
NM_000094.4(COL7A1):c.5910C>T (p.Phe1970=) rs141290741 0.00212
NM_000094.4(COL7A1):c.3605G>A (p.Arg1202His) rs149011081 0.00166
NM_000094.4(COL7A1):c.4373C>T (p.Pro1458Leu) rs79378857 0.00150
NM_000094.4(COL7A1):c.1613G>A (p.Arg538His) rs138791004 0.00138
NM_000094.4(COL7A1):c.3889G>A (p.Glu1297Lys) rs149881350 0.00138
NM_000094.4(COL7A1):c.2367C>T (p.Ser789=) rs139521707 0.00121
NM_000094.4(COL7A1):c.4559C>T (p.Pro1520Leu) rs140114392 0.00113
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.2242G>A (p.Glu748Lys) rs148411473 0.00095
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.4312G>A (p.Val1438Ile) rs148625586 0.00066
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.4722+11C>T rs145729790 0.00049
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.7687-6C>T rs200429526 0.00024
NM_000094.4(COL7A1):c.6357G>A (p.Pro2119=) rs142298581 0.00023
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.7008G>A (p.Gly2336=) rs117723065 0.00019
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.3786+15G>A rs373252766 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.8094C>T (p.Gly2698=) rs199936185 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.4118C>T (p.Ser1373Leu) rs140403507 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.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.425A>G (p.Lys142Arg) rs121912856 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.1527C>T (p.Ser509=) rs78149541 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.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.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.1732C>T (p.Arg578Ter) rs144023803 0.00002
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.1624C>T (p.Arg542Cys) rs780602305 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.3893G>A (p.Arg1298Lys) rs530442803 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.5314C>T (p.Arg1772Trp) rs1032335328 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.6293A>C (p.Glu2098Ala) rs886058635 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.*162C>T rs545650545
NM_000094.4(COL7A1):c.*216G>C rs1803298
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.1637-1G>A rs886058642
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.266+2T>C rs561997536
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.3942dup (p.Asn1315fs) rs747912732
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.5261dup (p.Gly1755fs) rs1057517723
NM_000094.4(COL7A1):c.5797C>T (p.Arg1933Ter) rs757415879
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>A (p.Pro2397=) rs34360255
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.7984-7del rs66737445
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

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