ClinVar Miner

List of variants in gene COL7A1 reported by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 251
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HGVS dbSNP
NM_000094.3(COL7A1):c.*105C>T rs377441767
NM_000094.3(COL7A1):c.*40A>T rs886058627
NM_000094.3(COL7A1):c.*65T>C rs74780677
NM_000094.3(COL7A1):c.1062T>C (p.Thr354=) rs201697063
NM_000094.3(COL7A1):c.1098G>A (p.Gly366=) rs150776274
NM_000094.3(COL7A1):c.1348C>T (p.Arg450Cys) rs139434755
NM_000094.3(COL7A1):c.1370C>T (p.Pro457Leu) rs200396882
NM_000094.3(COL7A1):c.1411T>C (p.Leu471=) rs139564795
NM_000094.3(COL7A1):c.1468G>A (p.Gly490Ser) rs143372872
NM_000094.3(COL7A1):c.1473C>T (p.His491=) rs201847088
NM_000094.3(COL7A1):c.1527C>T (p.Ser509=) rs78149541
NM_000094.3(COL7A1):c.158A>G (p.Asn53Ser) rs772466271
NM_000094.3(COL7A1):c.1613G>A (p.Arg538His) rs138791004
NM_000094.3(COL7A1):c.1624C>T (p.Arg542Cys) rs780602305
NM_000094.3(COL7A1):c.1628G>A (p.Ser543Asn) rs76410546
NM_000094.3(COL7A1):c.1637-1G>A rs886058642
NM_000094.3(COL7A1):c.1732C>T (p.Arg578Ter) rs144023803
NM_000094.3(COL7A1):c.1784C>T (p.Pro595Leu) rs2228561
NM_000094.3(COL7A1):c.1969C>T (p.Pro657Ser) rs886058641
NM_000094.3(COL7A1):c.2106C>T (p.Val702=) rs75551775
NM_000094.3(COL7A1):c.2146A>G (p.Arg716Gly) rs143040168
NM_000094.3(COL7A1):c.2242G>A (p.Glu748Lys) rs148411473
NM_000094.3(COL7A1):c.2314+15G>A rs144483183
NM_000094.3(COL7A1):c.2367C>T (p.Ser789=) rs139521707
NM_000094.3(COL7A1):c.2392G>A (p.Gly798Arg) rs202237834
NM_000094.3(COL7A1):c.2431C>T (p.Arg811Trp) rs551951844
NM_000094.3(COL7A1):c.2544C>T (p.Val848=) rs139545952
NM_000094.3(COL7A1):c.266+2T>C rs561997536
NM_000094.3(COL7A1):c.2662G>C (p.Glu888Gln) rs200523730
NM_000094.3(COL7A1):c.2817A>G (p.Pro939=) rs1264194
NM_000094.3(COL7A1):c.2888G>A (p.Arg963His) rs776204399
NM_000094.3(COL7A1):c.2969G>A (p.Arg990Gln) rs568498471
NM_000094.3(COL7A1):c.2993-13C>G rs371738291
NM_000094.3(COL7A1):c.2997G>A (p.Val999=) rs369633742
NM_000094.3(COL7A1):c.3139+12G>A rs2255532
NM_000094.3(COL7A1):c.3182C>T (p.Ala1061Val) rs553468091
NM_000094.3(COL7A1):c.3232C>T (p.Arg1078Cys) rs149154108
NM_000094.3(COL7A1):c.3233G>A (p.Arg1078His) rs748471791
NM_000094.3(COL7A1):c.3343G>C (p.Gly1115Arg) rs200235451
NM_000094.3(COL7A1):c.3359G>A (p.Arg1120Lys) rs2228563
NM_000094.3(COL7A1):c.3412G>A (p.Val1138Met) rs145048666
NM_000094.3(COL7A1):c.3605G>A (p.Arg1202His) rs149011081
NM_000094.3(COL7A1):c.3753T>C (p.Cys1251=) rs764349883
NM_000094.3(COL7A1):c.3760-10C>G rs200169440
NM_000094.3(COL7A1):c.3830C>T (p.Pro1277Leu) rs35761247
NM_000094.3(COL7A1):c.3875C>T (p.Ala1292Val) rs776493858
NM_000094.3(COL7A1):c.3889G>A (p.Glu1297Lys) rs149881350
NM_000094.3(COL7A1):c.3893G>A (p.Arg1298Lys) rs530442803
NM_000094.3(COL7A1):c.3942dup (p.Asn1315fs) rs747912732
NM_000094.3(COL7A1):c.3975+11C>T rs7637885
NM_000094.3(COL7A1):c.3999T>C (p.Pro1333=) rs756134134
NM_000094.3(COL7A1):c.4048-15T>A rs367995901
NM_000094.3(COL7A1):c.4118C>T (p.Ser1373Leu) rs140403507
NM_000094.3(COL7A1):c.4119+11G>A rs202225012
NM_000094.3(COL7A1):c.425A>G (p.Lys142Arg) rs121912856
NM_000094.3(COL7A1):c.427-14T>C rs552110604
NM_000094.3(COL7A1):c.4312G>A (p.Val1438Ile) rs148625586
NM_000094.3(COL7A1):c.4329G>T (p.Lys1443Asn) rs752495777
NM_000094.3(COL7A1):c.4373C>T (p.Pro1458Leu) rs79378857
NM_000094.3(COL7A1):c.4388C>T (p.Ser1463Phe) rs886058640
NM_000094.3(COL7A1):c.4437+5G>A rs886058639
NM_000094.3(COL7A1):c.4483-11T>C rs74390291
NM_000094.3(COL7A1):c.4509G>A (p.Ala1503=) rs748294033
NM_000094.3(COL7A1):c.4559C>T (p.Pro1520Leu) rs140114392
NM_000094.3(COL7A1):c.4560T>A (p.Pro1520=) rs142686837
NM_000094.3(COL7A1):c.4613G>A (p.Arg1538His) rs2229824
NM_000094.3(COL7A1):c.4722+11C>T rs145729790
NM_000094.3(COL7A1):c.4782+9A>T rs369635501
NM_000094.3(COL7A1):c.4810G>C (p.Gly1604Arg) rs1560234201
NM_000094.3(COL7A1):c.4927G>A (p.Gly1643Ser) rs886058638
NM_000094.3(COL7A1):c.4944G>A (p.Pro1648=) rs111360822
NM_000094.3(COL7A1):c.5052+15A>G rs377568216
NM_000094.3(COL7A1):c.5058C>T (p.Ser1686=) rs144700737
NM_000094.3(COL7A1):c.5097G>A (p.Pro1699=) rs369034739
NM_000094.3(COL7A1):c.5098-5C>T rs886058637
NM_000094.3(COL7A1):c.5154+5T>C rs2854400
NM_000094.3(COL7A1):c.520+9C>T rs368959634
NM_000094.3(COL7A1):c.5217T>A (p.Pro1739=) rs147611409
NM_000094.3(COL7A1):c.5259C>T (p.Pro1753=) rs151261530
NM_000094.3(COL7A1):c.5261dup (p.Gly1755fs) rs1057517723
NM_000094.3(COL7A1):c.5307+7G>C rs116455408
NM_000094.3(COL7A1):c.5314C>T (p.Arg1772Trp) rs1032335328
NM_000094.3(COL7A1):c.5343C>T (p.Ser1781=) rs147919436
NM_000094.3(COL7A1):c.5368G>A (p.Ala1790Thr) rs780506505
NM_000094.3(COL7A1):c.543G>A (p.Glu181=) rs372458548
NM_000094.3(COL7A1):c.54G>C (p.Ala18=) rs35899847
NM_000094.3(COL7A1):c.5572G>A (p.Glu1858Lys) rs147633212
NM_000094.3(COL7A1):c.5590G>A (p.Ala1864Thr) rs17080261
NM_000094.3(COL7A1):c.5605-14T>C rs749961187
NM_000094.3(COL7A1):c.5605-15C>T rs200309694
NM_000094.3(COL7A1):c.5726C>T (p.Thr1909Met) rs201719223
NM_000094.3(COL7A1):c.5769G>A (p.Glu1923=) rs143843471
NM_000094.3(COL7A1):c.5771A>T (p.Gln1924Leu) rs746824716
NM_000094.3(COL7A1):c.5797C>T (p.Arg1933Ter) rs757415879
NM_000094.3(COL7A1):c.5819C>T (p.Pro1940Leu) rs149267939
NM_000094.3(COL7A1):c.5910C>T (p.Phe1970=) rs141290741
NM_000094.3(COL7A1):c.5930G>T (p.Arg1977Leu) rs182669506
NM_000094.3(COL7A1):c.5933G>C (p.Arg1978Pro) rs754315799
NM_000094.3(COL7A1):c.5988C>T (p.Ile1996=) rs146901730
NM_000094.3(COL7A1):c.59G>C (p.Arg20Pro) rs755340663
NM_000094.3(COL7A1):c.6036C>G (p.Gly2012=) rs886058636
NM_000094.3(COL7A1):c.6081C>T (p.Pro2027=) rs375047225
NM_000094.3(COL7A1):c.6113A>G (p.Lys2038Arg) rs749235923
NM_000094.3(COL7A1):c.6217-6C>T rs191559835
NM_000094.3(COL7A1):c.630C>T (p.Leu210=) rs117857033
NM_000094.3(COL7A1):c.6357G>A (p.Pro2119=) rs142298581
NM_000094.3(COL7A1):c.638G>A (p.Arg213Gln) rs62261469
NM_000094.3(COL7A1):c.6394-9T>C rs374698863
NM_000094.3(COL7A1):c.6457-11A>G rs776269680
NM_000094.3(COL7A1):c.6502-10C>G rs200193957
NM_000094.3(COL7A1):c.6572C>T (p.Pro2191Leu) rs140543032
NM_000094.3(COL7A1):c.6619-12G>T rs886058634
NM_000094.3(COL7A1):c.663C>T (p.Gly221=) rs367607652
NM_000094.3(COL7A1):c.6654C>G (p.Gly2218=) rs151111203
NM_000094.3(COL7A1):c.6696C>A (p.Pro2232=) rs61729223
NM_000094.3(COL7A1):c.6978+8G>A rs187312469
NM_000094.3(COL7A1):c.7008G>A (p.Gly2336=) rs117723065
NM_000094.3(COL7A1):c.7037G>A (p.Arg2346His) rs201432371
NM_000094.3(COL7A1):c.7048C>T (p.Pro2350Ser) rs749870307
NM_000094.3(COL7A1):c.7120G>A (p.Gly2374Arg) rs181430415
NM_000094.3(COL7A1):c.7164+10T>C rs781780574
NM_000094.3(COL7A1):c.7191C>A (p.Pro2397=) rs34360255
NM_000094.3(COL7A1):c.7204G>A (p.Val2402Ile) rs761576147
NM_000094.3(COL7A1):c.724G>A (p.Glu242Lys) rs549872555
NM_000094.3(COL7A1):c.7273G>T (p.Gly2425Cys) rs886058633
NM_000094.3(COL7A1):c.7286C>T (p.Pro2429Leu) rs2229822
NM_000094.3(COL7A1):c.7353T>C (p.Pro2451=) rs139461888
NM_000094.3(COL7A1):c.7380+8G>A rs560853464
NM_000094.3(COL7A1):c.7408C>A (p.Pro2470Thr) rs886058632
NM_000094.3(COL7A1):c.7510C>T (p.Arg2504Cys) rs201897441
NM_000094.3(COL7A1):c.7581G>A (p.Gly2527=) rs530291076
NM_000094.3(COL7A1):c.761C>T (p.Ala254Val) rs201916805
NM_000094.3(COL7A1):c.7674C>T (p.Asp2558=) rs201140493
NM_000094.3(COL7A1):c.7687-6C>T rs200429526
NM_000094.3(COL7A1):c.7689C>T (p.Gly2563=) rs779995041
NM_000094.3(COL7A1):c.7758+10G>A rs371927547
NM_000094.3(COL7A1):c.7929+3A>T rs886058631
NM_000094.3(COL7A1):c.7984-7del rs66737445
NM_000094.3(COL7A1):c.802C>T (p.Pro268Ser) rs35623035
NM_000094.3(COL7A1):c.8054G>C (p.Arg2685Pro) rs886058630
NM_000094.3(COL7A1):c.8064C>T (p.Asp2688=) rs546054756
NM_000094.3(COL7A1):c.8094C>T (p.Gly2698=) rs199936185
NM_000094.3(COL7A1):c.8095G>A (p.Glu2699Lys) rs200938473
NM_000094.3(COL7A1):c.8108G>A (p.Arg2703Gln) rs886058629
NM_000094.3(COL7A1):c.810G>A (p.Thr270=) rs138770708
NM_000094.3(COL7A1):c.8227-3C>T rs761592627
NM_000094.3(COL7A1):c.8240C>T (p.Pro2747Leu) rs139566877
NM_000094.3(COL7A1):c.8244C>T (p.Pro2748=) rs749575902
NM_000094.3(COL7A1):c.8280A>G (p.Gly2760=) rs374365287
NM_000094.3(COL7A1):c.8371C>T (p.Arg2791Trp) rs142566193
NM_000094.3(COL7A1):c.8504G>A (p.Arg2835His) rs139014122
NM_000094.3(COL7A1):c.8541T>C (p.Pro2847=) rs79473918
NM_000094.3(COL7A1):c.8568C>T (p.Ser2856=) rs148454724
NM_000094.3(COL7A1):c.8631C>A (p.Ser2877=) rs886058628
NM_000094.3(COL7A1):c.89C>T (p.Thr30Ile) rs74453879
NM_000094.3(COL7A1):c.923T>C (p.Ile308Thr) rs145738101
NM_000094.4(COL7A1):c.*162C>A
NM_000094.4(COL7A1):c.*162C>T
NM_000094.4(COL7A1):c.*216G>C
NM_000094.4(COL7A1):c.*270G>T
NM_000094.4(COL7A1):c.*87G>A
NM_000094.4(COL7A1):c.1043G>T (p.Arg348Leu)
NM_000094.4(COL7A1):c.1070G>A (p.Arg357His)
NM_000094.4(COL7A1):c.1357+8C>A
NM_000094.4(COL7A1):c.13C>G (p.Leu5Val)
NM_000094.4(COL7A1):c.1495G>A rs201877942
NM_000094.4(COL7A1):c.1525A>G (p.Ser509Gly)
NM_000094.4(COL7A1):c.1625G>A (p.Arg542His)
NM_000094.4(COL7A1):c.1649C>A (p.Thr550Asn)
NM_000094.4(COL7A1):c.1777C>T (p.Arg593Trp)
NM_000094.4(COL7A1):c.1785G>A (p.Pro595=)
NM_000094.4(COL7A1):c.1844G>T (p.Arg615Met)
NM_000094.4(COL7A1):c.1907G>T rs116005007
NM_000094.4(COL7A1):c.219T>C (p.Ser73=)
NM_000094.4(COL7A1):c.2277C>T (p.Gly759=)
NM_000094.4(COL7A1):c.2376A>G (p.Leu792=)
NM_000094.4(COL7A1):c.2380A>T (p.Ile794Phe)
NM_000094.4(COL7A1):c.2442C>T (p.Gly814=)
NM_000094.4(COL7A1):c.2596G>T (p.Ala866Ser)
NM_000094.4(COL7A1):c.2645C>T (p.Ser882Leu)
NM_000094.4(COL7A1):c.2791C>T (p.Arg931Cys)
NM_000094.4(COL7A1):c.2887C>T (p.Arg963Cys)
NM_000094.4(COL7A1):c.314G>A (p.Arg105His)
NM_000094.4(COL7A1):c.3224T>C (p.Val1075Ala)
NM_000094.4(COL7A1):c.3551-5C>T
NM_000094.4(COL7A1):c.3566T>C (p.Met1189Thr)
NM_000094.4(COL7A1):c.3724-4G>A
NM_000094.4(COL7A1):c.3786+15G>A
NM_000094.4(COL7A1):c.3840C>T (p.Thr1280=)
NM_000094.4(COL7A1):c.4000C>T (p.Arg1334Cys)
NM_000094.4(COL7A1):c.4100A>C (p.Lys1367Thr)
NM_000094.4(COL7A1):c.4217G>T (p.Gly1406Val)
NM_000094.4(COL7A1):c.4427T>C (p.Ile1476Thr)
NM_000094.4(COL7A1):c.447C>T (p.Asp149=)
NM_000094.4(COL7A1):c.4485C>T (p.Gly1495=)
NM_000094.4(COL7A1):c.4540C>T (p.Arg1514Cys)
NM_000094.4(COL7A1):c.4561G>C (p.Glu1521Gln)
NM_000094.4(COL7A1):c.4585C>T (p.Arg1529Cys)
NM_000094.4(COL7A1):c.4612C>T (p.Arg1538Cys) rs149711883
NM_000094.4(COL7A1):c.4615C>T (p.Pro1539Ser)
NM_000094.4(COL7A1):c.4704C>T (p.Thr1568=)
NM_000094.4(COL7A1):c.4780C>T
NM_000094.4(COL7A1):c.4814C>A (p.Pro1605His)
NM_000094.4(COL7A1):c.4818+11G>A
NM_000094.4(COL7A1):c.4889G>A (p.Arg1630Gln)
NM_000094.4(COL7A1):c.5041G>T (p.Asp1681Tyr)
NM_000094.4(COL7A1):c.5086C>T (p.Arg1696Cys)
NM_000094.4(COL7A1):c.5087G>A (p.Arg1696His)
NM_000094.4(COL7A1):c.5202T>C (p.Gly1734=)
NM_000094.4(COL7A1):c.5315G>A (p.Arg1772Gln)
NM_000094.4(COL7A1):c.5350G>C (p.Asp1784His)
NM_000094.4(COL7A1):c.5384C>T (p.Pro1795Leu)
NM_000094.4(COL7A1):c.5772+11C>T
NM_000094.4(COL7A1):c.5820G>A rs200972872
NM_000094.4(COL7A1):c.5913G>T rs754578634
NM_000094.4(COL7A1):c.5926C>T (p.Arg1976Trp)
NM_000094.4(COL7A1):c.5927G>A (p.Arg1976Gln)
NM_000094.4(COL7A1):c.592G>A (p.Val198Ile)
NM_000094.4(COL7A1):c.6094C>T (p.Leu2032Phe)
NM_000094.4(COL7A1):c.6177G>C (p.Glu2059Asp)
NM_000094.4(COL7A1):c.61G>C (p.Val21Leu)
NM_000094.4(COL7A1):c.6293A>C rs886058635
NM_000094.4(COL7A1):c.6435G>A (p.Pro2145=)
NM_000094.4(COL7A1):c.6465A>G (p.Pro2155=)
NM_000094.4(COL7A1):c.6884C>T (p.Thr2295Met)
NM_000094.4(COL7A1):c.7050C>T (p.Pro2350=)
NM_000094.4(COL7A1):c.7068+5G>A rs779875751
NM_000094.4(COL7A1):c.707G>A (p.Arg236Gln)
NM_000094.4(COL7A1):c.7124T>A (p.Val2375Asp)
NM_000094.4(COL7A1):c.717G>A (p.Val239=)
NM_000094.4(COL7A1):c.7191C>T rs34360255
NM_000094.4(COL7A1):c.7196C>T (p.Ala2399Val)
NM_000094.4(COL7A1):c.7217C>T (p.Pro2406Leu)
NM_000094.4(COL7A1):c.7521+9G>A
NM_000094.4(COL7A1):c.7686+9A>G
NM_000094.4(COL7A1):c.7793C>T (p.Pro2598Leu)
NM_000094.4(COL7A1):c.8000C>T (p.Pro2667Leu)
NM_000094.4(COL7A1):c.8206G>A rs779942952
NM_000094.4(COL7A1):c.8227-9G>A
NM_000094.4(COL7A1):c.8290G>A (p.Glu2764Lys)
NM_000094.4(COL7A1):c.8353C>T (p.Leu2785=)
NM_000094.4(COL7A1):c.8407+10G>A
NM_000094.4(COL7A1):c.8444C>T (p.Pro2815Leu)
NM_000094.4(COL7A1):c.8485C>T (p.His2829Tyr)
NM_000094.4(COL7A1):c.8611G>A (p.Asp2871Asn)
NM_000094.4(COL7A1):c.8779C>T (p.Arg2927Cys)
NM_000094.4(COL7A1):c.8783G>A (p.Arg2928His)
NM_000094.4(COL7A1):c.888T>C (p.Gly296=)
NM_000094.4(COL7A1):c.893G>A (p.Arg298Gln)
NM_000094.4(COL7A1):c.941G>T (p.Ser314Ile)
NM_000094.4(COL7A1):c.946G>C (p.Gly316Arg)

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