ClinVar Miner

List of variants in gene COL7A1 reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 415
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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.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.1507+10C>T rs537188035
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.1721G>A (p.Arg574Gln) rs201557549
NM_000094.3(COL7A1):c.1860C>T (p.Pro620=) rs369313576
NM_000094.3(COL7A1):c.1969C>T (p.Pro657Ser) rs886058641
NM_000094.3(COL7A1):c.1970C>G (p.Pro657Arg) rs369972686
NM_000094.3(COL7A1):c.2010C>T (p.Gly670=) rs74861804
NM_000094.3(COL7A1):c.2045G>A (p.Arg682Gln) rs772900092
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.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.2662G>C (p.Glu888Gln) rs200523730
NM_000094.3(COL7A1):c.2742C>T (p.Pro914=) rs140193653
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.3140-4A>T rs201656230
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.3412G>A (p.Val1138Met) rs145048666
NM_000094.3(COL7A1):c.3605G>A (p.Arg1202His) rs149011081
NM_000094.3(COL7A1):c.3750T>C (p.Tyr1250=) rs558659528
NM_000094.3(COL7A1):c.3753T>C (p.Cys1251=) rs764349883
NM_000094.3(COL7A1):c.3760-10C>G rs200169440
NM_000094.3(COL7A1):c.3875C>T (p.Ala1292Val) rs776493858
NM_000094.3(COL7A1):c.3942dup (p.Asn1315fs) rs747912732
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.4120-9C>A rs199914077
NM_000094.3(COL7A1):c.427-14T>C rs552110604
NM_000094.3(COL7A1):c.4329G>T (p.Lys1443Asn) rs752495777
NM_000094.3(COL7A1):c.4388C>T (p.Ser1463Phe) rs886058640
NM_000094.3(COL7A1):c.4437+5G>A rs886058639
NM_000094.3(COL7A1):c.4509G>A (p.Ala1503=) rs748294033
NM_000094.3(COL7A1):c.4518+7C>T rs377114408
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.4782+9A>T rs369635501
NM_000094.3(COL7A1):c.4810G>C (p.Gly1604Arg) rs1560234201
NM_000094.3(COL7A1):c.4818+18T>A rs368227259
NM_000094.3(COL7A1):c.4923C>T (p.Asp1641=) rs202165842
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.5000G>A (p.Gly1667Glu) rs864321654
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.5173G>A (p.Gly1725Arg) rs772195825
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.5271+8A>G rs369192298
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.5427G>A (p.Gly1809=) rs770678998
NM_000094.3(COL7A1):c.543G>A (p.Glu181=) rs372458548
NM_000094.3(COL7A1):c.5532+67A>G rs1553856947
NM_000094.3(COL7A1):c.5548C>T (p.Pro1850Ser) rs761604061
NM_000094.3(COL7A1):c.5572G>A (p.Glu1858Lys) rs147633212
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.5772+10C>T rs368195728
NM_000094.3(COL7A1):c.5819C>T (p.Pro1940Leu) rs149267939
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.59G>C (p.Arg20Pro) rs755340663
NM_000094.3(COL7A1):c.6005G>A (p.Arg2002His) rs768326843
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.6091G>A (p.Gly2031Ser) rs121912838
NM_000094.3(COL7A1):c.6113A>G (p.Lys2038Arg) rs749235923
NM_000094.3(COL7A1):c.6180+23A>T rs1553854648
NM_000094.3(COL7A1):c.6216+9C>T rs200855943
NM_000094.3(COL7A1):c.6279+4A>T rs370622769
NM_000094.3(COL7A1):c.630C>T (p.Leu210=) rs117857033
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.6501+8G>T rs201392891
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.6649C>T (p.Arg2217Trp) rs546653276
NM_000094.3(COL7A1):c.6696C>A (p.Pro2232=) rs61729223
NM_000094.3(COL7A1):c.6717T>G (p.Gly2239=) rs1425057780
NM_000094.3(COL7A1):c.6723G>A (p.Gln2241=) rs775756645
NM_000094.3(COL7A1):c.6978+8G>A rs187312469
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.7128G>A (p.Pro2376=) rs776459582
NM_000094.3(COL7A1):c.7164+10T>C rs781780574
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.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.7416C>T (p.Gly2472=) rs142651194
NM_000094.3(COL7A1):c.7422T>C (p.Arg2474=) rs146250538
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.7615-6A>T rs777157837
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.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.8037C>T (p.Ile2679=) rs112974441
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.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.8266C>T (p.Pro2756Ser) rs755546809
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.8407+10G>T rs754593655
NM_000094.3(COL7A1):c.8504G>A (p.Arg2835His) rs139014122
NM_000094.3(COL7A1):c.8530C>T (p.Arg2844Trp) rs138002006
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.923T>C (p.Ile308Thr) rs145738101
NM_000094.3(COL7A1):c.951G>A (p.Glu317=) rs1482481603
NM_000094.4(COL7A1):c.*162C>A
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.1167G>A (p.Thr389=)
NM_000094.4(COL7A1):c.1186A>T (p.Ser396Cys)
NM_000094.4(COL7A1):c.1215C>T (p.Pro405=)
NM_000094.4(COL7A1):c.1241-4G>A
NM_000094.4(COL7A1):c.1324C>T (p.Arg442Cys)
NM_000094.4(COL7A1):c.1345C>T (p.Arg449Trp)
NM_000094.4(COL7A1):c.1357+8C>A
NM_000094.4(COL7A1):c.13C>G (p.Leu5Val)
NM_000094.4(COL7A1):c.1402C>T (p.Arg468Cys)
NM_000094.4(COL7A1):c.1403G>A (p.Arg468His)
NM_000094.4(COL7A1):c.1428G>A (p.Pro476=)
NM_000094.4(COL7A1):c.1495G>A rs201877942
NM_000094.4(COL7A1):c.1525A>G (p.Ser509Gly)
NM_000094.4(COL7A1):c.1532T>C (p.Val511Ala)
NM_000094.4(COL7A1):c.1561G>A (p.Gly521Arg)
NM_000094.4(COL7A1):c.1604C>A (p.Thr535Asn)
NM_000094.4(COL7A1):c.1615A>T (p.Ile539Phe)
NM_000094.4(COL7A1):c.1625G>A (p.Arg542His)
NM_000094.4(COL7A1):c.1649C>A (p.Thr550Asn)
NM_000094.4(COL7A1):c.1681G>A (p.Asp561Asn)
NM_000094.4(COL7A1):c.1717G>C (p.Val573Leu)
NM_000094.4(COL7A1):c.1720C>T (p.Arg574Trp)
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.1910C>T (p.Pro637Leu)
NM_000094.4(COL7A1):c.1936G>C (p.Asp646His)
NM_000094.4(COL7A1):c.2035A>G (p.Ile679Val)
NM_000094.4(COL7A1):c.2064A>G (p.Pro688=)
NM_000094.4(COL7A1):c.2100A>C rs756201098
NM_000094.4(COL7A1):c.2157G>C (p.Trp719Cys)
NM_000094.4(COL7A1):c.215C>A (p.Ala72Asp)
NM_000094.4(COL7A1):c.2169C>T (p.His723=)
NM_000094.4(COL7A1):c.2178G>T (p.Glu726Asp)
NM_000094.4(COL7A1):c.219T>C (p.Ser73=)
NM_000094.4(COL7A1):c.2202G>A (p.Glu734=)
NM_000094.4(COL7A1):c.2249C>T (p.Thr750Met)
NM_000094.4(COL7A1):c.2277C>T (p.Gly759=)
NM_000094.4(COL7A1):c.2315-3C>T
NM_000094.4(COL7A1):c.2376A>G (p.Leu792=)
NM_000094.4(COL7A1):c.2380A>T (p.Ile794Phe)
NM_000094.4(COL7A1):c.2382C>T (p.Ile794=)
NM_000094.4(COL7A1):c.2442C>T (p.Gly814=)
NM_000094.4(COL7A1):c.2445C>G (p.Gly815=)
NM_000094.4(COL7A1):c.2503G>A (p.Glu835Lys)
NM_000094.4(COL7A1):c.2545G>A (p.Gly849Arg)
NM_000094.4(COL7A1):c.2548G>A (p.Asp850Asn)
NM_000094.4(COL7A1):c.2557G>A (p.Gly853Ser)
NM_000094.4(COL7A1):c.2587C>T (p.Pro863Ser)
NM_000094.4(COL7A1):c.2596G>T (p.Ala866Ser)
NM_000094.4(COL7A1):c.2625_2626delinsCT (p.Val876Leu)
NM_000094.4(COL7A1):c.2645C>T (p.Ser882Leu)
NM_000094.4(COL7A1):c.2666C>T (p.Pro889Leu)
NM_000094.4(COL7A1):c.2729G>T (p.Arg910Leu)
NM_000094.4(COL7A1):c.2734C>T (p.Leu912=)
NM_000094.4(COL7A1):c.2769G>A (p.Gly923=)
NM_000094.4(COL7A1):c.2791C>A (p.Arg931Ser)
NM_000094.4(COL7A1):c.2791C>T (p.Arg931Cys)
NM_000094.4(COL7A1):c.2792G>A (p.Arg931His)
NM_000094.4(COL7A1):c.2793C>T (p.Arg931=)
NM_000094.4(COL7A1):c.279C>T (p.Gly93=)
NM_000094.4(COL7A1):c.2852G>A (p.Arg951His)
NM_000094.4(COL7A1):c.2887C>T (p.Arg963Cys)
NM_000094.4(COL7A1):c.2968C>T (p.Arg990Trp)
NM_000094.4(COL7A1):c.3016C>T (p.Leu1006Phe)
NM_000094.4(COL7A1):c.302G>T (p.Gly101Val)
NM_000094.4(COL7A1):c.3039G>T (p.Gln1013His)
NM_000094.4(COL7A1):c.3064G>A (p.Val1022Ile)
NM_000094.4(COL7A1):c.3086C>T (p.Thr1029Met)
NM_000094.4(COL7A1):c.3107G>A (p.Arg1036Gln)
NM_000094.4(COL7A1):c.3112C>T (p.Pro1038Ser)
NM_000094.4(COL7A1):c.314G>A (p.Arg105His)
NM_000094.4(COL7A1):c.3158C>T (p.Ala1053Val)
NM_000094.4(COL7A1):c.317C>T (p.Ala106Val)
NM_000094.4(COL7A1):c.3203G>A (p.Arg1068His)
NM_000094.4(COL7A1):c.3211G>A (p.Ala1071Thr)
NM_000094.4(COL7A1):c.3224T>C (p.Val1075Ala)
NM_000094.4(COL7A1):c.3411C>T (p.Ala1137=)
NM_000094.4(COL7A1):c.3469G>A (p.Val1157Ile)
NM_000094.4(COL7A1):c.3479T>C (p.Val1160Ala)
NM_000094.4(COL7A1):c.3551-5C>T
NM_000094.4(COL7A1):c.3565A>G (p.Met1189Val)
NM_000094.4(COL7A1):c.3566T>C (p.Met1189Thr)
NM_000094.4(COL7A1):c.3673G>C (p.Ala1225Pro)
NM_000094.4(COL7A1):c.3724-4G>A
NM_000094.4(COL7A1):c.3724-6C>T
NM_000094.4(COL7A1):c.3727C>T (p.Arg1243Trp)
NM_000094.4(COL7A1):c.3731C>T (p.Pro1244Leu)
NM_000094.4(COL7A1):c.3771G>A (p.Gly1257=)
NM_000094.4(COL7A1):c.3826C>T (p.Leu1276Phe)
NM_000094.4(COL7A1):c.3831+3G>A
NM_000094.4(COL7A1):c.3837G>A (p.Arg1279=)
NM_000094.4(COL7A1):c.3840C>T (p.Thr1280=)
NM_000094.4(COL7A1):c.3841G>A (p.Gly1281Ser)
NM_000094.4(COL7A1):c.3888C>T (p.Gly1296=)
NM_000094.4(COL7A1):c.3917G>A (p.Arg1306His)
NM_000094.4(COL7A1):c.3929C>T (p.Pro1310Leu)
NM_000094.4(COL7A1):c.3932G>C (p.Gly1311Ala)
NM_000094.4(COL7A1):c.3939C>T (p.Ala1313=)
NM_000094.4(COL7A1):c.4000C>T (p.Arg1334Cys)
NM_000094.4(COL7A1):c.4001G>A (p.Arg1334His)
NM_000094.4(COL7A1):c.4012-9C>T
NM_000094.4(COL7A1):c.4024C>T (p.Pro1342Ser)
NM_000094.4(COL7A1):c.4069G>A (p.Gly1357Arg)
NM_000094.4(COL7A1):c.4100A>C (p.Lys1367Thr)
NM_000094.4(COL7A1):c.4135C>T (p.Arg1379Cys)
NM_000094.4(COL7A1):c.4162C>T (p.Arg1388Cys)
NM_000094.4(COL7A1):c.4210G>A (p.Asp1404Asn)
NM_000094.4(COL7A1):c.4214G>A (p.Arg1405His)
NM_000094.4(COL7A1):c.4217G>T (p.Gly1406Val)
NM_000094.4(COL7A1):c.4278G>A (p.Pro1426=)
NM_000094.4(COL7A1):c.4287C>T rs749814590
NM_000094.4(COL7A1):c.4297G>C (p.Gly1433Arg)
NM_000094.4(COL7A1):c.4391C>T (p.Pro1464Leu)
NM_000094.4(COL7A1):c.4408C>T (p.Arg1470Trp)
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.4508C>T (p.Ala1503Val)
NM_000094.4(COL7A1):c.4519-3C>T
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.4615C>T (p.Pro1539Ser)
NM_000094.4(COL7A1):c.4635+10G>A
NM_000094.4(COL7A1):c.4636-3C>T
NM_000094.4(COL7A1):c.4636-9T>C rs760840151
NM_000094.4(COL7A1):c.4636G>C (p.Gly1546Arg)
NM_000094.4(COL7A1):c.4666A>G (p.Lys1556Glu)
NM_000094.4(COL7A1):c.4678G>A (p.Gly1560Arg)
NM_000094.4(COL7A1):c.4684G>A (p.Ala1562Thr)
NM_000094.4(COL7A1):c.4704C>T (p.Thr1568=)
NM_000094.4(COL7A1):c.4720C>T (p.Arg1574Trp) rs773815805
NM_000094.4(COL7A1):c.477T>C (p.Ala159=)
NM_000094.4(COL7A1):c.4780C>T
NM_000094.4(COL7A1):c.4782+3G>A
NM_000094.4(COL7A1):c.4814C>A (p.Pro1605His)
NM_000094.4(COL7A1):c.4818+11G>A
NM_000094.4(COL7A1):c.4859G>A (p.Arg1620Gln)
NM_000094.4(COL7A1):c.4889G>A (p.Arg1630Gln)
NM_000094.4(COL7A1):c.4978C>T (p.Arg1660Trp)
NM_000094.4(COL7A1):c.4987C>A (p.Pro1663Thr)
NM_000094.4(COL7A1):c.4996C>T (p.Arg1666Trp)
NM_000094.4(COL7A1):c.4997G>A (p.Arg1666Gln)
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.5096C>T rs121912845
NM_000094.4(COL7A1):c.5202T>C (p.Gly1734=)
NM_000094.4(COL7A1):c.5271+6T>C
NM_000094.4(COL7A1):c.5273G>A (p.Gly1758Glu)
NM_000094.4(COL7A1):c.5315G>A (p.Arg1772Gln)
NM_000094.4(COL7A1):c.5350G>C (p.Asp1784His)
NM_000094.4(COL7A1):c.5352T>C (p.Asp1784=)
NM_000094.4(COL7A1):c.5384C>T (p.Pro1795Leu)
NM_000094.4(COL7A1):c.5387A>G (p.Asn1796Ser)
NM_000094.4(COL7A1):c.5425-6_5425-5delTT rs762085901
NM_000094.4(COL7A1):c.5441G>A (p.Arg1814His)
NM_000094.4(COL7A1):c.5459C>G rs143037856
NM_000094.4(COL7A1):c.5465C>T (p.Pro1822Leu)
NM_000094.4(COL7A1):c.5532+8T>C
NM_000094.4(COL7A1):c.5559C>T (p.Asp1853=)
NM_000094.4(COL7A1):c.5626G>C (p.Glu1876Gln)
NM_000094.4(COL7A1):c.5661G>C (p.Gly1887=)
NM_000094.4(COL7A1):c.5701-10C>T
NM_000094.4(COL7A1):c.5736+9G>A rs777097228
NM_000094.4(COL7A1):c.5772+11C>T
NM_000094.4(COL7A1):c.5798G>A (p.Arg1933Gln)
NM_000094.4(COL7A1):c.580TTC[5] (p.Phe197dup)
NM_000094.4(COL7A1):c.5820G>A rs200972872
NM_000094.4(COL7A1):c.5877C>T (p.Ile1959=)
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.5929C>T (p.Arg1977Cys)
NM_000094.4(COL7A1):c.592G>A (p.Val198Ile)
NM_000094.4(COL7A1):c.6021C>A (p.Asp2007Glu)
NM_000094.4(COL7A1):c.6045G>A (p.Gly2015=)
NM_000094.4(COL7A1):c.6075C>T (p.Gly2025=)
NM_000094.4(COL7A1):c.6094C>T (p.Leu2032Phe)
NM_000094.4(COL7A1):c.611T>C (p.Leu204Ser)
NM_000094.4(COL7A1):c.6177G>C (p.Glu2059Asp)
NM_000094.4(COL7A1):c.61G>C (p.Val21Leu)
NM_000094.4(COL7A1):c.6261C>A (p.Pro2087=)
NM_000094.4(COL7A1):c.6270T>A (p.Pro2090=)
NM_000094.4(COL7A1):c.6270T>G (p.Pro2090=)
NM_000094.4(COL7A1):c.6293A>C rs886058635
NM_000094.4(COL7A1):c.631G>A (p.Val211Ile)
NM_000094.4(COL7A1):c.6398T>C (p.Val2133Ala)
NM_000094.4(COL7A1):c.642A>T (p.Arg214Ser)
NM_000094.4(COL7A1):c.6435G>A (p.Pro2145=)
NM_000094.4(COL7A1):c.6447C>T (p.Asp2149=)
NM_000094.4(COL7A1):c.6456G>A (p.Pro2152=)
NM_000094.4(COL7A1):c.6457-3C>T
NM_000094.4(COL7A1):c.6465A>G (p.Pro2155=)
NM_000094.4(COL7A1):c.6473G>A (p.Arg2158His)
NM_000094.4(COL7A1):c.6497A>G (p.Lys2166Arg)
NM_000094.4(COL7A1):c.6596C>T (p.Pro2199Leu)
NM_000094.4(COL7A1):c.6730C>G (p.Pro2244Ala)
NM_000094.4(COL7A1):c.6884C>T (p.Thr2295Met)
NM_000094.4(COL7A1):c.6937-10C>A
NM_000094.4(COL7A1):c.6943C>G (p.Pro2315Ala)
NM_000094.4(COL7A1):c.6954T>C (p.Leu2318=)
NM_000094.4(COL7A1):c.6977C>A (p.Pro2326Gln)
NM_000094.4(COL7A1):c.7036C>T (p.Arg2346Cys)
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.7215C>T (p.Phe2405=)
NM_000094.4(COL7A1):c.7217C>T (p.Pro2406Leu)
NM_000094.4(COL7A1):c.7334C>T (p.Pro2445Leu)
NM_000094.4(COL7A1):c.7391G>A (p.Gly2464Glu)
NM_000094.4(COL7A1):c.7412G>A (p.Arg2471Gln)
NM_000094.4(COL7A1):c.7417G>A rs199819125
NM_000094.4(COL7A1):c.7485+6del
NM_000094.4(COL7A1):c.7521+9G>A
NM_000094.4(COL7A1):c.7595G>A (p.Arg2532Gln)
NM_000094.4(COL7A1):c.7686+9A>G
NM_000094.4(COL7A1):c.7763A>C (p.Gln2588Pro)
NM_000094.4(COL7A1):c.7793C>T (p.Pro2598Leu)
NM_000094.4(COL7A1):c.8000C>T (p.Pro2667Leu)
NM_000094.4(COL7A1):c.8007G>C (p.Gln2669His)
NM_000094.4(COL7A1):c.8094C>A (p.Gly2698=)
NM_000094.4(COL7A1):c.8167C>T (p.Pro2723Ser)
NM_000094.4(COL7A1):c.8177C>T (p.Pro2726Leu)
NM_000094.4(COL7A1):c.8206G>A rs779942952
NM_000094.4(COL7A1):c.8216A>C (p.Gln2739Pro)
NM_000094.4(COL7A1):c.8227-9G>A
NM_000094.4(COL7A1):c.8234G>A rs377182638
NM_000094.4(COL7A1):c.8289C>T (p.Gly2763=)
NM_000094.4(COL7A1):c.8290G>A (p.Glu2764Lys)
NM_000094.4(COL7A1):c.8305G>C (p.Gly2769Arg)
NM_000094.4(COL7A1):c.831G>A (p.Pro277=)
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.8457T>C (p.Tyr2819=)
NM_000094.4(COL7A1):c.8485C>T (p.His2829Tyr)
NM_000094.4(COL7A1):c.8505C>T (p.Arg2835=)
NM_000094.4(COL7A1):c.8539C>G (p.Pro2847Ala)
NM_000094.4(COL7A1):c.8539C>T (p.Pro2847Ser)
NM_000094.4(COL7A1):c.853G>A (p.Val285Ile)
NM_000094.4(COL7A1):c.8569G>A (p.Glu2857Lys)
NM_000094.4(COL7A1):c.8611G>A (p.Asp2871Asn)
NM_000094.4(COL7A1):c.8635C>T (p.Pro2879Ser)
NM_000094.4(COL7A1):c.8779C>T (p.Arg2927Cys)
NM_000094.4(COL7A1):c.8783G>A (p.Arg2928His)
NM_000094.4(COL7A1):c.8800G>T (p.Val2934Phe)
NM_000094.4(COL7A1):c.8817A>G (p.Thr2939=)
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)

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.