ClinVar Miner

List of variants in gene COL7A1 studied for Recessive dystrophic epidermolysis bullosa

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Gene type:
ClinVar version:
Total variants: 258
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HGVS dbSNP gnomAD frequency
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.3359G>A (p.Arg1120Lys) rs2228563 0.00277
NM_000094.4(COL7A1):c.802C>T (p.Pro268Ser) rs35623035 0.00276
NM_000094.4(COL7A1):c.3605G>A (p.Arg1202His) rs149011081 0.00166
NM_000094.4(COL7A1):c.8371C>T (p.Arg2791Trp) rs142566193 0.00109
NM_000094.4(COL7A1):c.8504G>A (p.Arg2835His) rs139014122 0.00056
NM_000094.4(COL7A1):c.592G>A (p.Val198Ile) rs147177277 0.00042
NM_000094.4(COL7A1):c.4987C>A (p.Pro1663Thr) rs149342284 0.00019
NM_000094.4(COL7A1):c.1495G>A (p.Val499Met) rs201877942 0.00018
NM_000094.4(COL7A1):c.5086C>T (p.Arg1696Cys) rs2229820 0.00016
NM_000094.4(COL7A1):c.266+2T>C rs561997536 0.00013
NM_000094.4(COL7A1):c.5459C>G (p.Pro1820Arg) rs143037856 0.00010
NM_000094.4(COL7A1):c.5820G>A (p.Pro1940=) rs200972872 0.00010
NM_000094.4(COL7A1):c.7674C>T (p.Asp2558=) rs201140493 0.00009
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg) rs121912856 0.00008
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=) rs767539005 0.00006
NM_000094.4(COL7A1):c.7344G>A (p.Val2448=) rs201728948 0.00006
NM_000094.4(COL7A1):c.4210G>A (p.Asp1404Asn) rs146659822 0.00005
NM_000094.4(COL7A1):c.6738G>T (p.Leu2246Phe) rs575575729 0.00005
NM_000094.4(COL7A1):c.6448G>A (p.Gly2150Ser) rs370428918 0.00004
NM_000094.4(COL7A1):c.2443G>A (p.Gly815Ser) rs576306176 0.00003
NM_000094.4(COL7A1):c.3841G>A (p.Gly1281Ser) rs569641113 0.00003
NM_000094.4(COL7A1):c.4445G>A (p.Arg1482Gln) rs570707807 0.00003
NM_000094.4(COL7A1):c.5499C>T (p.Gly1833=) rs758886532 0.00003
NM_000094.4(COL7A1):c.5830C>T (p.Arg1944Trp) rs527416146 0.00003
NM_000094.4(COL7A1):c.682+1G>A rs775288140 0.00003
NM_000094.4(COL7A1):c.1732C>T (p.Arg578Ter) rs144023803 0.00002
NM_000094.4(COL7A1):c.497dup (p.Val168fs) rs766902987 0.00002
NM_000094.4(COL7A1):c.5560G>A (p.Gly1854Arg) rs146234310 0.00002
NM_000094.4(COL7A1):c.6091G>A (p.Gly2031Ser) rs121912838 0.00002
NM_000094.4(COL7A1):c.7068+5G>A rs779875751 0.00002
NM_000094.4(COL7A1):c.7738C>T (p.Arg2580Cys) rs762084565 0.00002
NM_000094.4(COL7A1):c.8038G>A (p.Gly2680Ser) rs370744140 0.00002
NM_000094.4(COL7A1):c.8323G>A (p.Gly2775Ser) rs1333259313 0.00002
NM_000094.4(COL7A1):c.1304G>A (p.Trp435Ter) rs375539799 0.00001
NM_000094.4(COL7A1):c.1573C>T (p.Arg525Ter) rs368007918 0.00001
NM_000094.4(COL7A1):c.1720C>T (p.Arg574Trp) rs200762860 0.00001
NM_000094.4(COL7A1):c.1837C>T (p.Arg613Ter) rs759634066 0.00001
NM_000094.4(COL7A1):c.2005C>T (p.Arg669Ter) rs780261665 0.00001
NM_000094.4(COL7A1):c.2035A>G (p.Ile679Val) rs751176402 0.00001
NM_000094.4(COL7A1):c.3565A>G (p.Met1189Val) rs546776797 0.00001
NM_000094.4(COL7A1):c.4011G>A (p.Pro1337=) rs201597369 0.00001
NM_000094.4(COL7A1):c.4027C>T (p.Arg1343Ter) rs761234904 0.00001
NM_000094.4(COL7A1):c.4172C>T (p.Pro1391Leu) rs767036698 0.00001
NM_000094.4(COL7A1):c.4448G>A (p.Gly1483Asp) rs756217590 0.00001
NM_000094.4(COL7A1):c.4783-1G>A rs371908708 0.00001
NM_000094.4(COL7A1):c.4888C>T (p.Arg1630Ter) rs121912847 0.00001
NM_000094.4(COL7A1):c.4894C>T (p.Arg1632Ter) rs751535193 0.00001
NM_000094.4(COL7A1):c.5047C>T (p.Arg1683Ter) rs760063197 0.00001
NM_000094.4(COL7A1):c.5108G>A (p.Gly1703Glu) rs770304825 0.00001
NM_000094.4(COL7A1):c.5188C>T (p.Arg1730Ter) rs746053763 0.00001
NM_000094.4(COL7A1):c.520G>A (p.Gly174Arg) rs1245411910 0.00001
NM_000094.4(COL7A1):c.5314C>T (p.Arg1772Trp) rs1032335328 0.00001
NM_000094.4(COL7A1):c.553C>T (p.Arg185Ter) rs886041186 0.00001
NM_000094.4(COL7A1):c.5869C>T (p.Arg1957Trp) rs747081862 0.00001
NM_000094.4(COL7A1):c.5870G>A (p.Arg1957Gln) rs1340588200 0.00001
NM_000094.4(COL7A1):c.6170C>T (p.Pro2057Leu) rs2044220324 0.00001
NM_000094.4(COL7A1):c.6187C>T (p.Arg2063Trp) rs121912849 0.00001
NM_000094.4(COL7A1):c.61G>C (p.Val21Leu) rs377112899 0.00001
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) rs121912855 0.00001
NM_000094.4(COL7A1):c.6649C>T (p.Arg2217Trp) rs546653276 0.00001
NM_000094.4(COL7A1):c.6781C>T (p.Arg2261Ter) rs772381373 0.00001
NM_000094.4(COL7A1):c.6936G>T (p.Lys2312Asn) rs933384009 0.00001
NM_000094.4(COL7A1):c.7051G>A (p.Gly2351Arg) rs1800013 0.00001
NM_000094.4(COL7A1):c.706C>T (p.Arg236Ter) rs121912854 0.00001
NM_000094.4(COL7A1):c.7115G>A (p.Gly2372Glu) rs1233025207 0.00001
NM_000094.4(COL7A1):c.7380+2T>C rs1249145909 0.00001
NM_000094.4(COL7A1):c.7723G>A (p.Gly2575Arg) rs760891216 0.00001
NM_000094.4(COL7A1):c.7828C>T (p.Arg2610Ter) rs1064793916 0.00001
NM_000094.4(COL7A1):c.7957G>A (p.Gly2653Arg) rs121912851 0.00001
NM_000094.4(COL7A1):c.8109+1G>A rs1050797523 0.00001
NM_000094.4(COL7A1):c.8138G>A (p.Gly2713Asp) rs369591910 0.00001
NM_000094.4(COL7A1):c.8245G>A (p.Gly2749Arg) rs121912853 0.00001
NM_000094.4(COL7A1):c.8393T>A (p.Met2798Lys) rs121912828 0.00001
NM_000094.4(COL7A1):c.8528-45G>A rs781077978 0.00001
NM_000094.4(COL7A1):c.8684G>A (p.Arg2895Gln) rs147911102 0.00001
LRG_286t1:c.[520G>A];[2711-4_2711-1delCCAG]
NC_000003.12:g.48589471del rs1336602322
NM_000094.3(COL7A1):c.4199del rs2045013494
NM_000094.3(COL7A1):c.4603del rs2044824444
NM_000094.3(COL7A1):c.7760del rs2107638590
NM_000094.4(COL7A1):c.1319del (p.Glu440fs) rs1559435706
NM_000094.4(COL7A1):c.1452_1453del (p.Tyr485fs) rs752558942
NM_000094.4(COL7A1):c.1507+4A>T rs2107788093
NM_000094.4(COL7A1):c.1520C>T (p.Pro507Leu)
NM_000094.4(COL7A1):c.1720C>G (p.Arg574Gly) rs200762860
NM_000094.4(COL7A1):c.1A>G (p.Met1Val) rs1064797078
NM_000094.4(COL7A1):c.2171-2A>G rs1158674229
NM_000094.4(COL7A1):c.2305_2314delinsTT (p.Val769fs) rs2045526309
NM_000094.4(COL7A1):c.2308_2314+1del
NM_000094.4(COL7A1):c.2318_2321dup (p.Glu774delinsAspTer) rs1064797079
NM_000094.4(COL7A1):c.2441-6G>A rs2531261501
NM_000094.4(COL7A1):c.2471dup (p.Asn825fs) rs746056280
NM_000094.4(COL7A1):c.2548G>T (p.Asp850Tyr) rs538387822
NM_000094.4(COL7A1):c.2708del (p.Glu903fs) rs2107763474
NM_000094.4(COL7A1):c.2711-1G>C rs2107760970
NM_000094.4(COL7A1):c.2858-1G>A rs2531234929
NM_000094.4(COL7A1):c.2858_2859del (p.Glu953fs) rs2107757949
NM_000094.4(COL7A1):c.2924C>G (p.Ala975Gly)
NM_000094.4(COL7A1):c.2989C>T (p.Gln997Ter) rs1559423385
NM_000094.4(COL7A1):c.325_326insCG (p.Glu109fs) rs1235811820
NM_000094.4(COL7A1):c.3263C>T (p.Pro1088Leu) rs529120446
NM_000094.4(COL7A1):c.3265C>T (p.Gln1089Ter) rs1553612617
NM_000094.4(COL7A1):c.3276+1G>A rs2045311247
NM_000094.4(COL7A1):c.329_332dup (p.Ser111_Tyr112insTer) rs1256976418
NM_000094.4(COL7A1):c.3376_3386del (p.Tyr1126fs) rs765699235
NM_000094.4(COL7A1):c.343_344del (p.Gly115fs) rs1480404745
NM_000094.4(COL7A1):c.3474del (p.Gly1159_Val1160insTer)
NM_000094.4(COL7A1):c.3503C>G (p.Pro1168Arg) rs2045260406
NM_000094.4(COL7A1):c.3504del (p.Pro1168_Leu1169insTer) rs730880286
NM_000094.4(COL7A1):c.3545_3550del (p.Ala1182_Ser1183del) rs2107748198
NM_000094.4(COL7A1):c.3637TTC[1] (p.Phe1214del) rs1175969915
NM_000094.4(COL7A1):c.3678_3681del (p.Ser1227fs) rs2531202927
NM_000094.4(COL7A1):c.3840del (p.Gly1281fs) rs757688782
NM_000094.4(COL7A1):c.3859G>A (p.Gly1287Arg)
NM_000094.4(COL7A1):c.3861del (p.Pro1289fs) rs1575470363
NM_000094.4(COL7A1):c.3974del (p.Lys1325fs) rs1423231619
NM_000094.4(COL7A1):c.3977G>T (p.Gly1326Val)
NM_000094.4(COL7A1):c.4011+1G>A rs1553862581
NM_000094.4(COL7A1):c.4012G>A (p.Gly1338Arg) rs1156352791
NM_000094.4(COL7A1):c.4039G>T (p.Gly1347Trp) rs121912833
NM_000094.4(COL7A1):c.409C>T (p.Arg137Ter) rs1203706188
NM_000094.4(COL7A1):c.4119+1G>T rs1575467199
NM_000094.4(COL7A1):c.4196A>T (p.Lys1399Met)
NM_000094.4(COL7A1):c.4198-1G>A
NM_000094.4(COL7A1):c.4198G>A (p.Gly1400Ser) rs2107731142
NM_000094.4(COL7A1):c.4211A>T (p.Asp1404Val)
NM_000094.4(COL7A1):c.4237_4241delinsACAGA (p.Pro1413_Gly1414delinsThrAsp) rs2531155675
NM_000094.4(COL7A1):c.4250del (p.Gly1417fs) rs2531155501
NM_000094.4(COL7A1):c.4342-2A>G rs2107727475
NM_000094.4(COL7A1):c.4350_4351del (p.Glu1451fs) rs2531148387
NM_000094.4(COL7A1):c.4466G>A (p.Gly1489Asp) rs1416352336
NM_000094.4(COL7A1):c.4583G>A (p.Gly1528Asp) rs2107718980
NM_000094.4(COL7A1):c.4616del (p.Pro1539fs) rs2107717630
NM_000094.4(COL7A1):c.4635+1G>A rs774890570
NM_000094.4(COL7A1):c.4635+5G>A rs1170510858
NM_000094.4(COL7A1):c.4667del (p.Lys1556fs) rs2531113955
NM_000094.4(COL7A1):c.476del (p.Ala159fs) rs2531347823
NM_000094.4(COL7A1):c.4782+1G>A rs2531107840
NM_000094.4(COL7A1):c.4783G>C (p.Gly1595Arg) rs121912840
NM_000094.4(COL7A1):c.4811G>A (p.Gly1604Glu)
NM_000094.4(COL7A1):c.4827_4834del (p.Gly1610fs) rs2107711734
NM_000094.4(COL7A1):c.4871del (p.Pro1624fs) rs1064797082
NM_000094.4(COL7A1):c.4959del (p.Ala1654fs) rs2531093466
NM_000094.4(COL7A1):c.4980+1G>C rs730880285
NM_000094.4(COL7A1):c.4990G>A (p.Gly1664Arg) rs1560231816
NM_000094.4(COL7A1):c.4999G>T (p.Gly1667Trp) rs2107707008
NM_000094.4(COL7A1):c.5000G>A (p.Gly1667Glu) rs864321654
NM_000094.4(COL7A1):c.5017G>A (p.Gly1673Arg) rs2107706875
NM_000094.4(COL7A1):c.5022_5030dup (p.Asp1677_Pro1678insGlnGlyAsp) rs760558831
NM_000094.4(COL7A1):c.5053-5_5055dup rs2531080753
NM_000094.4(COL7A1):c.5124+2T>C rs2107702819
NM_000094.4(COL7A1):c.520+5G>A
NM_000094.4(COL7A1):c.5254_5257delinsTGAATCA (p.Gly1752_Pro1753delinsTer) rs2107698884
NM_000094.4(COL7A1):c.5324del (p.Pro1775fs) rs2531054735
NM_000094.4(COL7A1):c.5443G>A (p.Gly1815Arg) rs121912841
NM_000094.4(COL7A1):c.5532+1G>A rs767182886
NM_000094.4(COL7A1):c.5532+1G>T rs767182886
NM_000094.4(COL7A1):c.5605G>C (p.Gly1869Arg) rs1057517724
NM_000094.4(COL7A1):c.5669G>T (p.Gly1890Val) rs2107682252
NM_000094.4(COL7A1):c.5679del (p.Pro1894fs) rs2107682223
NM_000094.4(COL7A1):c.5783G>A (p.Gly1928Glu) rs1560219171
NM_000094.4(COL7A1):c.5797C>T (p.Arg1933Ter) rs757415879
NM_000094.4(COL7A1):c.5819del (p.Pro1940fs) rs1575442301
NM_000094.4(COL7A1):c.5924_5927del (p.Glu1975fs) rs1064797080
NM_000094.4(COL7A1):c.5932C>T (p.Arg1978Ter) rs1368134215
NM_000094.4(COL7A1):c.5959C>T (p.Gln1987Ter) rs2530978135
NM_000094.4(COL7A1):c.6022C>T (p.Arg2008Cys) rs1055680335
NM_000094.4(COL7A1):c.6023G>T (p.Arg2008Leu) rs1002845719
NM_000094.4(COL7A1):c.6039_6056del (p.Gln2014_Leu2019del)
NM_000094.4(COL7A1):c.6044G>A (p.Gly2015Glu) rs121912843
NM_000094.4(COL7A1):c.6073G>A (p.Gly2025Ser) rs2107674627
NM_000094.4(COL7A1):c.6081dup (p.Gly2028fs) rs780623622
NM_000094.4(COL7A1):c.6103del (p.Glu2035fs) rs2107674323
NM_000094.4(COL7A1):c.6145G>A (p.Gly2049Arg) rs1189071165
NM_000094.4(COL7A1):c.6146G>A (p.Gly2049Glu) rs1410793870
NM_000094.4(COL7A1):c.6246_6254del (p.Thr2083_Gly2085del) rs767279107
NM_000094.4(COL7A1):c.6269del (p.Pro2090fs) rs2044195570
NM_000094.4(COL7A1):c.6280-2_6281del rs2107670544
NM_000094.4(COL7A1):c.6501G>T (p.Pro2167=) rs767539005
NM_000094.4(COL7A1):c.6508C>T (p.Gln2170Ter) rs1461012195
NM_000094.4(COL7A1):c.6527dup (p.Gly2177fs) rs768128088
NM_000094.4(COL7A1):c.6573+5G>A rs2107663986
NM_000094.4(COL7A1):c.6574-2A>G
NM_000094.4(COL7A1):c.657del (p.Gly220fs) rs1575494051
NM_000094.4(COL7A1):c.6647G>A (p.Gly2216Glu) rs781720055
NM_000094.4(COL7A1):c.6652-2A>G rs2044058094
NM_000094.4(COL7A1):c.6697G>A (p.Gly2233Ser) rs2107661505
NM_000094.4(COL7A1):c.6707G>A (p.Gly2236Asp) rs2107661433
NM_000094.4(COL7A1):c.6715G>A (p.Gly2239Ser)
NM_000094.4(COL7A1):c.6733G>A (p.Gly2245Ser) rs2107660536
NM_000094.4(COL7A1):c.6734G>A (p.Gly2245Asp) rs2107660525
NM_000094.4(COL7A1):c.6751-2_6751-1del rs760460054
NM_000094.4(COL7A1):c.6759_6760del (p.Gly2254fs) rs2530913503
NM_000094.4(COL7A1):c.6761G>A (p.Gly2254Glu) rs2107659875
NM_000094.4(COL7A1):c.676C>T (p.Arg226Ter) rs753819164
NM_000094.4(COL7A1):c.682+5G>A rs767647070
NM_000094.4(COL7A1):c.6832G>C (p.Gly2278Arg) rs1186008166
NM_000094.4(COL7A1):c.6859G>A (p.Gly2287Arg) rs121912839
NM_000094.4(COL7A1):c.6926A>C (p.Lys2309Thr) rs2107657132
NM_000094.4(COL7A1):c.6927G>C (p.Lys2309Asn) rs2530904406
NM_000094.4(COL7A1):c.7017C>T (p.Gly2339=) rs1362309822
NM_000094.4(COL7A1):c.7025G>A (p.Gly2342Asp) rs2530892715
NM_000094.4(COL7A1):c.7069G>C (p.Gly2357Arg) rs2530879298
NM_000094.4(COL7A1):c.7097G>C (p.Gly2366Ala) rs2043899331
NM_000094.4(COL7A1):c.7104+3A>T rs749077987
NM_000094.4(COL7A1):c.7157G>A (p.Gly2386Asp) rs2043889654
NM_000094.4(COL7A1):c.7244dup (p.Met2415fs) rs1336686272
NM_000094.4(COL7A1):c.7249C>T (p.Gln2417Ter) rs983476178
NM_000094.4(COL7A1):c.7256G>A (p.Gly2419Asp) rs2530870857
NM_000094.4(COL7A1):c.7270C>T (p.Arg2424Trp) rs1189942401
NM_000094.4(COL7A1):c.7272+1G>A rs2107648492
NM_000094.4(COL7A1):c.7333C>G (p.Pro2445Ala)
NM_000094.4(COL7A1):c.7411C>T (p.Arg2471Ter) rs121912852
NM_000094.4(COL7A1):c.7414G>A (p.Gly2472Ser)
NM_000094.4(COL7A1):c.7442G>A (p.Gly2481Asp) rs886039328
NM_000094.4(COL7A1):c.7474C>T (p.Arg2492Ter) rs765529435
NM_000094.4(COL7A1):c.7521+2T>C rs2107643652
NM_000094.4(COL7A1):c.7547dup (p.Gly2517_Asp2518insTer) rs2107642953
NM_000094.4(COL7A1):c.7621C>T (p.Arg2541Ter) rs2107641787
NM_000094.4(COL7A1):c.7624G>A (p.Gly2542Arg) rs2530844081
NM_000094.4(COL7A1):c.7708del (p.Asp2570fs) rs2107639823
NM_000094.4(COL7A1):c.7723G>T (p.Gly2575Trp) rs760891216
NM_000094.4(COL7A1):c.7727T>A (p.Leu2576Ter) rs2530838087
NM_000094.4(COL7A1):c.7733G>C (p.Gly2578Ala) rs1294442227
NM_000094.4(COL7A1):c.7768G>C (p.Gly2590Arg) rs2043715843
NM_000094.4(COL7A1):c.7795-2A>G rs2107637442
NM_000094.4(COL7A1):c.7929+11_7929+26del rs773394779
NM_000094.4(COL7A1):c.7931G>A (p.Gly2644Glu)
NM_000094.4(COL7A1):c.793C>T (p.Gln265Ter) rs2531335997
NM_000094.4(COL7A1):c.8046+3A>T rs2107634885
NM_000094.4(COL7A1):c.8047-2A>C rs2107633400
NM_000094.4(COL7A1):c.8075G>A (p.Gly2692Asp) rs2043644681
NM_000094.4(COL7A1):c.80A>T (p.Glu27Val) rs2107811799
NM_000094.4(COL7A1):c.8109+5G>C rs2530819528
NM_000094.4(COL7A1):c.8117del (p.Pro2706fs) rs34040119
NM_000094.4(COL7A1):c.8200G>C (p.Gly2734Arg) rs2107632563
NM_000094.4(COL7A1):c.8219G>C (p.Gly2740Ala) rs745691610
NM_000094.4(COL7A1):c.8226+1G>C rs2530817264
NM_000094.4(COL7A1):c.8244del (p.Gly2749fs) rs2107632018
NM_000094.4(COL7A1):c.8245G>T (p.Gly2749Ter) rs121912853
NM_000094.4(COL7A1):c.8246G>A (p.Gly2749Glu) rs2107631988
NM_000094.4(COL7A1):c.8278G>A (p.Gly2760Arg) rs1064797081
NM_000094.4(COL7A1):c.8304+1G>A rs759579761
NM_000094.4(COL7A1):c.8335G>T (p.Glu2779Ter)
NM_000094.4(COL7A1):c.8357_8358+4del rs2107631188
NM_000094.4(COL7A1):c.8359-16G>A rs1489365076
NM_000094.4(COL7A1):c.8416_8417del (p.Gly2806fs) rs2107628480
NM_000094.4(COL7A1):c.846G>A (p.Glu282=) rs770216458
NM_000094.4(COL7A1):c.84A>G (p.Arg28=) rs1559444716
NM_000094.4(COL7A1):c.8524_8527+10del rs566181351
NM_000094.4(COL7A1):c.8541del (p.Glu2848fs) rs2043547588
NM_000094.4(COL7A1):c.8569G>T (p.Glu2857Ter) rs372166543
NM_000094.4(COL7A1):c.8729G>T (p.Gly2910Val) rs1242922135
NM_000094.4(COL7A1):c.933C>A (p.Tyr311Ter) rs121912830
NM_000094.4(COL7A1):c.976+4A>T rs2107794243
NM_000094.4(COL7A1):c.977-1G>C rs2107793500

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