ClinVar Miner

List of variants in gene COL7A1 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 252
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HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.2817A>G (p.Pro939=) rs1264194 0.74010
NM_000094.4(COL7A1):c.3139+12G>A rs2255532 0.45078
NM_000094.4(COL7A1):c.1784C>T (p.Pro595Leu) rs2228561 0.09897
NM_000094.4(COL7A1):c.8305-20G>C rs17256786 0.05213
NM_000094.4(COL7A1):c.4636G>C (p.Gly1546Arg) rs73831831 0.00043
NM_000094.4(COL7A1):c.3809C>T (p.Pro1270Leu) rs145068043 0.00032
NM_000094.4(COL7A1):c.1348C>T (p.Arg450Cys) rs139434755 0.00026
NM_000094.4(COL7A1):c.4636-3C>T rs200981821 0.00024
NM_000094.4(COL7A1):c.4987C>A (p.Pro1663Thr) rs149342284 0.00019
NM_000094.4(COL7A1):c.5086C>T (p.Arg1696Cys) rs2229820 0.00016
NM_000094.4(COL7A1):c.7510C>T (p.Arg2504Cys) rs201897441 0.00014
NM_000094.4(COL7A1):c.266+2T>C rs561997536 0.00013
NM_000094.4(COL7A1):c.5820G>A (p.Pro1940=) rs200972872 0.00010
NM_000094.4(COL7A1):c.4198-17C>T rs373923805 0.00009
NM_000094.4(COL7A1):c.1612C>T (p.Arg538Cys) rs184692105 0.00008
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg) rs121912856 0.00008
NM_000094.4(COL7A1):c.128T>C (p.Leu43Pro) rs149317921 0.00006
NM_000094.4(COL7A1):c.3276+6G>C rs376542325 0.00006
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=) rs767539005 0.00006
NM_000094.4(COL7A1):c.7036C>T (p.Arg2346Cys) rs145729761 0.00006
NM_000094.4(COL7A1):c.7381-20G>A rs750336865 0.00006
NM_000094.4(COL7A1):c.1349G>A (p.Arg450His) rs748854484 0.00005
NM_000094.4(COL7A1):c.6206G>A (p.Arg2069His) rs773938350 0.00005
NM_000094.4(COL7A1):c.7864C>T (p.Arg2622Trp) rs139318843 0.00005
NM_000094.4(COL7A1):c.3932G>C (p.Gly1311Ala) rs746075630 0.00004
NM_000094.4(COL7A1):c.5654C>T (p.Pro1885Leu) rs151032217 0.00004
NM_000094.4(COL7A1):c.7271G>A (p.Arg2424Gln) rs781689640 0.00004
NM_000094.4(COL7A1):c.8401C>T (p.His2801Tyr) rs375653257 0.00004
NM_000094.4(COL7A1):c.1334G>A (p.Arg445Gln) rs528257059 0.00003
NM_000094.4(COL7A1):c.1744C>T (p.Arg582Cys) rs145200529 0.00003
NM_000094.4(COL7A1):c.2368G>A (p.Asp790Asn) rs372786023 0.00003
NM_000094.4(COL7A1):c.2645C>T (p.Ser882Leu) rs372767169 0.00003
NM_000094.4(COL7A1):c.4009C>G (p.Pro1337Ala) rs774162615 0.00003
NM_000094.4(COL7A1):c.4329G>T (p.Lys1443Asn) rs752495777 0.00003
NM_000094.4(COL7A1):c.5772+14C>T rs1173854859 0.00003
NM_000094.4(COL7A1):c.8289C>T (p.Gly2763=) rs763764765 0.00003
NM_000094.4(COL7A1):c.8527+12T>G rs750529756 0.00003
NM_000094.4(COL7A1):c.1442G>A (p.Arg481His) rs147040026 0.00002
NM_000094.4(COL7A1):c.2048C>T (p.Thr683Met) rs201852525 0.00002
NM_000094.4(COL7A1):c.2596G>T (p.Ala866Ser) rs779814851 0.00002
NM_000094.4(COL7A1):c.5441G>A (p.Arg1814His) rs756258247 0.00002
NM_000094.4(COL7A1):c.7420C>T (p.Arg2474Cys) rs939213328 0.00002
NM_000094.4(COL7A1):c.7882C>T (p.Arg2628Trp) rs376588113 0.00002
NM_000094.4(COL7A1):c.8323G>A (p.Gly2775Ser) rs1333259313 0.00002
NM_000094.4(COL7A1):c.1286C>T (p.Thr429Ile) rs141018618 0.00001
NM_000094.4(COL7A1):c.1304G>A (p.Trp435Ter) rs375539799 0.00001
NM_000094.4(COL7A1):c.151C>G (p.Arg51Gly) rs775852765 0.00001
NM_000094.4(COL7A1):c.1561G>A (p.Gly521Arg) rs1383489466 0.00001
NM_000094.4(COL7A1):c.158A>G (p.Asn53Ser) rs772466271 0.00001
NM_000094.4(COL7A1):c.190C>T (p.Leu64=) rs1433553113 0.00001
NM_000094.4(COL7A1):c.2317C>A (p.Pro773Thr) rs1343293507 0.00001
NM_000094.4(COL7A1):c.2451G>A (p.Met817Ile) rs759047842 0.00001
NM_000094.4(COL7A1):c.2543T>G (p.Val848Gly) rs758940600 0.00001
NM_000094.4(COL7A1):c.256G>A (p.Asp86Asn) rs1227369277 0.00001
NM_000094.4(COL7A1):c.298G>A (p.Gly100Arg) rs748986531 0.00001
NM_000094.4(COL7A1):c.3301C>T (p.Arg1101Trp) rs777235438 0.00001
NM_000094.4(COL7A1):c.3628G>C (p.Val1210Leu) rs147391146 0.00001
NM_000094.4(COL7A1):c.4015G>C (p.Glu1339Gln) rs765321512 0.00001
NM_000094.4(COL7A1):c.4342-10T>A rs2044956753 0.00001
NM_000094.4(COL7A1):c.4342-13G>A rs942776933 0.00001
NM_000094.4(COL7A1):c.4437+16G>A rs755912565 0.00001
NM_000094.4(COL7A1):c.4540C>T (p.Arg1514Cys) rs1170025132 0.00001
NM_000094.4(COL7A1):c.4705G>A (p.Gly1569Arg) rs989893662 0.00001
NM_000094.4(COL7A1):c.4753C>T (p.Pro1585Ser) rs1487871071 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.5135G>A (p.Gly1712Glu) rs2044603793 0.00001
NM_000094.4(COL7A1):c.5291G>C (p.Gly1764Ala) rs1057520568 0.00001
NM_000094.4(COL7A1):c.5355G>A (p.Gly1785=) rs1357638631 0.00001
NM_000094.4(COL7A1):c.5591C>T (p.Ala1864Val) rs1425880288 0.00001
NM_000094.4(COL7A1):c.5630G>A (p.Arg1877His) rs1458059470 0.00001
NM_000094.4(COL7A1):c.5869C>T (p.Arg1957Trp) rs747081862 0.00001
NM_000094.4(COL7A1):c.6187C>T (p.Arg2063Trp) rs121912849 0.00001
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) rs121912855 0.00001
NM_000094.4(COL7A1):c.6257C>T (p.Pro2086Leu) rs958623536 0.00001
NM_000094.4(COL7A1):c.682C>T (p.Pro228Ser) rs760414178 0.00001
NM_000094.4(COL7A1):c.683-11C>T rs745604610 0.00001
NM_000094.4(COL7A1):c.7115G>A (p.Gly2372Glu) rs1233025207 0.00001
NM_000094.4(COL7A1):c.7165-18T>A rs779308418 0.00001
NM_000094.4(COL7A1):c.7335G>A (p.Pro2445=) rs779304674 0.00001
NM_000094.4(COL7A1):c.7440+20C>T rs1450376029 0.00001
NM_000094.4(COL7A1):c.7454G>A (p.Arg2485His) rs767728566 0.00001
NM_000094.4(COL7A1):c.7484C>T (p.Thr2495Met) rs771717980 0.00001
NM_000094.4(COL7A1):c.7580G>A (p.Gly2527Glu) rs906208330 0.00001
NM_000094.4(COL7A1):c.7723G>A (p.Gly2575Arg) rs760891216 0.00001
NM_000094.4(COL7A1):c.7875+16G>A rs949315239 0.00001
NM_000094.4(COL7A1):c.7967G>T (p.Gly2656Val) rs557951372 0.00001
NM_000094.4(COL7A1):c.8053C>T (p.Arg2685Ter) rs2043645754 0.00001
NM_000094.4(COL7A1):c.8156G>C (p.Gly2719Ala) rs1164917118 0.00001
NM_000094.4(COL7A1):c.8167C>T (p.Pro2723Ser) rs774540354 0.00001
NM_000094.4(COL7A1):c.8393T>A (p.Met2798Lys) rs121912828 0.00001
NM_000094.4(COL7A1):c.8441G>A (p.Arg2814Gln) rs767236747 0.00001
NM_000094.4(COL7A1):c.109G>A (p.Ala37Thr)
NM_000094.4(COL7A1):c.1172A>G (p.Tyr391Cys)
NM_000094.4(COL7A1):c.138C>A (p.Ser46=) rs1370098824
NM_000094.4(COL7A1):c.1636+9G>T
NM_000094.4(COL7A1):c.1637-16C>G
NM_000094.4(COL7A1):c.1694T>C (p.Val565Ala)
NM_000094.4(COL7A1):c.1714A>G (p.Thr572Ala)
NM_000094.4(COL7A1):c.1720C>G (p.Arg574Gly) rs200762860
NM_000094.4(COL7A1):c.1772T>C (p.Val591Ala)
NM_000094.4(COL7A1):c.1930C>T (p.Pro644Ser) rs1384386683
NM_000094.4(COL7A1):c.2111T>A (p.Ile704Asn) rs1332197316
NM_000094.4(COL7A1):c.2239A>G (p.Thr747Ala) rs2045533698
NM_000094.4(COL7A1):c.2305_2314delinsTT (p.Val769fs) rs2045526309
NM_000094.4(COL7A1):c.2308_2314+1del
NM_000094.4(COL7A1):c.2312C>T (p.Thr771Ile)
NM_000094.4(COL7A1):c.2333G>C (p.Arg778Pro) rs377140103
NM_000094.4(COL7A1):c.2398A>C (p.Thr800Pro)
NM_000094.4(COL7A1):c.2622C>A (p.His874Gln) rs368634417
NM_000094.4(COL7A1):c.2697C>G (p.His899Gln) rs1456565283
NM_000094.4(COL7A1):c.2741C>T (p.Pro914Leu)
NM_000094.4(COL7A1):c.2858-1G>A rs2531234929
NM_000094.4(COL7A1):c.323G>A (p.Arg108His)
NM_000094.4(COL7A1):c.3411C>G (p.Ala1137=) rs548139799
NM_000094.4(COL7A1):c.3514G>A (p.Asp1172Asn)
NM_000094.4(COL7A1):c.3650A>G (p.Asp1217Gly)
NM_000094.4(COL7A1):c.3672G>A (p.Gln1224=) rs2531203064
NM_000094.4(COL7A1):c.3815G>A (p.Gly1272Asp)
NM_000094.4(COL7A1):c.3831+1G>A rs776841521
NM_000094.4(COL7A1):c.3832-20T>C
NM_000094.4(COL7A1):c.3850G>C (p.Gly1284Arg)
NM_000094.4(COL7A1):c.3851G>A (p.Gly1284Asp)
NM_000094.4(COL7A1):c.3975+16C>T
NM_000094.4(COL7A1):c.3975+2T>A rs753368984
NM_000094.4(COL7A1):c.3985G>C (p.Gly1329Arg)
NM_000094.4(COL7A1):c.4012-3C>T
NM_000094.4(COL7A1):c.4039G>T (p.Gly1347Trp) rs121912833
NM_000094.4(COL7A1):c.4045C>G (p.Pro1349Ala)
NM_000094.4(COL7A1):c.4072G>A (p.Gly1358Ser) rs750288565
NM_000094.4(COL7A1):c.4093G>T (p.Gly1365Trp) rs753996076
NM_000094.4(COL7A1):c.4102G>A (p.Gly1368Arg) rs2531170545
NM_000094.4(COL7A1):c.4121G>C (p.Gly1374Ala)
NM_000094.4(COL7A1):c.4157G>C (p.Gly1386Ala)
NM_000094.4(COL7A1):c.4197+5C>T
NM_000094.4(COL7A1):c.4208G>A (p.Gly1403Asp) rs1437651291
NM_000094.4(COL7A1):c.4291A>G (p.Ser1431Gly)
NM_000094.4(COL7A1):c.4351G>A (p.Glu1451Lys) rs2531148337
NM_000094.4(COL7A1):c.4393G>T (p.Gly1465Cys) rs1437742200
NM_000094.4(COL7A1):c.4409G>A (p.Arg1470Gln)
NM_000094.4(COL7A1):c.4412G>A (p.Gly1471Glu)
NM_000094.4(COL7A1):c.4437+20T>C
NM_000094.4(COL7A1):c.4450T>C (p.Phe1484Leu) rs2531137847
NM_000094.4(COL7A1):c.4492G>A (p.Gly1498Arg) rs2531134507
NM_000094.4(COL7A1):c.4502G>C (p.Gly1501Ala) rs2531134211
NM_000094.4(COL7A1):c.4555G>A (p.Gly1519Ser) rs1560237346
NM_000094.4(COL7A1):c.4588C>T (p.Gln1530Ter) rs2107718927
NM_000094.4(COL7A1):c.4599+11G>A rs371560136
NM_000094.4(COL7A1):c.4665A>C (p.Glu1555Asp) rs1443190334
NM_000094.4(COL7A1):c.4668+6C>T
NM_000094.4(COL7A1):c.4723G>T (p.Gly1575Cys) rs1419526946
NM_000094.4(COL7A1):c.473C>A (p.Thr158Lys)
NM_000094.4(COL7A1):c.4786C>T (p.Pro1596Ser) rs2531106233
NM_000094.4(COL7A1):c.4793G>C (p.Gly1598Ala) rs2531106124
NM_000094.4(COL7A1):c.4811G>A (p.Gly1604Glu)
NM_000094.4(COL7A1):c.4846G>A (p.Gly1616Arg)
NM_000094.4(COL7A1):c.4900-1G>A rs2107710536
NM_000094.4(COL7A1):c.4917A>C (p.Lys1639Asn) rs1451206371
NM_000094.4(COL7A1):c.4936-12C>G rs766383258
NM_000094.4(COL7A1):c.494G>A (p.Gly165Glu) rs986805584
NM_000094.4(COL7A1):c.4965C>T (p.Gly1655=) rs1560232515
NM_000094.4(COL7A1):c.5026G>A (p.Gly1676Arg) rs2107706791
NM_000094.4(COL7A1):c.506A>G (p.Lys169Arg)
NM_000094.4(COL7A1):c.5117G>A (p.Gly1706Glu)
NM_000094.4(COL7A1):c.5333A>T (p.Asp1778Val) rs2531054475
NM_000094.4(COL7A1):c.5370T>A (p.Ala1790=) rs2531053689
NM_000094.4(COL7A1):c.5444G>A (p.Gly1815Glu) rs2531038212
NM_000094.4(COL7A1):c.5453G>A (p.Gly1818Asp)
NM_000094.4(COL7A1):c.5473C>G (p.Pro1825Ala)
NM_000094.4(COL7A1):c.5600G>C (p.Arg1867Thr)
NM_000094.4(COL7A1):c.5605G>C (p.Gly1869Arg) rs1057517724
NM_000094.4(COL7A1):c.5722G>C (p.Gly1908Arg) rs1348175069
NM_000094.4(COL7A1):c.5772+1del rs1295547257
NM_000094.4(COL7A1):c.5788C>T (p.Arg1930Cys)
NM_000094.4(COL7A1):c.5797C>T (p.Arg1933Ter) rs757415879
NM_000094.4(COL7A1):c.5820+6C>A rs1481011823
NM_000094.4(COL7A1):c.5878G>C (p.Val1960Leu) rs757528046
NM_000094.4(COL7A1):c.5963G>C (p.Gly1988Ala)
NM_000094.4(COL7A1):c.5998G>A (p.Gly2000Arg) rs2530975216
NM_000094.4(COL7A1):c.6127G>A (p.Gly2043Arg) rs121912836
NM_000094.4(COL7A1):c.6148G>C (p.Gly2050Arg)
NM_000094.4(COL7A1):c.6154G>A (p.Gly2052Arg)
NM_000094.4(COL7A1):c.6196A>C (p.Lys2066Gln)
NM_000094.4(COL7A1):c.61G>A (p.Val21Met) rs377112899
NM_000094.4(COL7A1):c.6235G>A (p.Gly2079Arg) rs2107671960
NM_000094.4(COL7A1):c.6339G>A (p.Lys2113=) rs1335811694
NM_000094.4(COL7A1):c.6341G>A (p.Gly2114Asp) rs2044175577
NM_000094.4(COL7A1):c.6394-16G>A rs372550217
NM_000094.4(COL7A1):c.6399G>T (p.Val2133=)
NM_000094.4(COL7A1):c.6440G>A (p.Gly2147Asp)
NM_000094.4(COL7A1):c.6457-13C>T rs2530943426
NM_000094.4(COL7A1):c.6515C>T (p.Pro2172Leu) rs998338876
NM_000094.4(COL7A1):c.6527dup (p.Gly2177fs) rs768128088
NM_000094.4(COL7A1):c.6552C>T (p.Asp2184=)
NM_000094.4(COL7A1):c.6565G>A (p.Gly2189Ser)
NM_000094.4(COL7A1):c.6574-2A>G
NM_000094.4(COL7A1):c.6584G>A (p.Gly2195Asp)
NM_000094.4(COL7A1):c.6619G>C (p.Gly2207Arg)
NM_000094.4(COL7A1):c.6628G>A (p.Gly2210Arg)
NM_000094.4(COL7A1):c.6647G>A (p.Gly2216Glu) rs781720055
NM_000094.4(COL7A1):c.6670G>A (p.Gly2224Arg)
NM_000094.4(COL7A1):c.6751-2_6751-1del rs760460054
NM_000094.4(COL7A1):c.6818G>A (p.Ser2273Asn) rs1394275573
NM_000094.4(COL7A1):c.682+1G>T rs775288140
NM_000094.4(COL7A1):c.6887G>A (p.Gly2296Glu)
NM_000094.4(COL7A1):c.6927G>C (p.Lys2309Asn) rs2530904406
NM_000094.4(COL7A1):c.6936+5G>A
NM_000094.4(COL7A1):c.6946G>A (p.Gly2316Arg) rs1575430201
NM_000094.4(COL7A1):c.6949G>A (p.Gly2317Ser) rs1349423783
NM_000094.4(COL7A1):c.6974A>C (p.Glu2325Ala)
NM_000094.4(COL7A1):c.6979-13C>T
NM_000094.4(COL7A1):c.6989G>A (p.Gly2330Asp)
NM_000094.4(COL7A1):c.6998G>T (p.Gly2333Val) rs2530896427
NM_000094.4(COL7A1):c.699T>C (p.Ser233=)
NM_000094.4(COL7A1):c.7001T>A (p.Leu2334Gln) rs2530896362
NM_000094.4(COL7A1):c.7090C>T (p.Pro2364Ser) rs113813395
NM_000094.4(COL7A1):c.7097G>C (p.Gly2366Ala) rs2043899331
NM_000094.4(COL7A1):c.7112C>T (p.Pro2371Leu)
NM_000094.4(COL7A1):c.7155A>G (p.Pro2385=)
NM_000094.4(COL7A1):c.7181C>G (p.Pro2394Arg) rs2107649079
NM_000094.4(COL7A1):c.7255G>A (p.Gly2419Ser)
NM_000094.4(COL7A1):c.7269G>A (p.Glu2423=) rs2530870636
NM_000094.4(COL7A1):c.7270C>T (p.Arg2424Trp) rs1189942401
NM_000094.4(COL7A1):c.7313C>T (p.Pro2438Leu) rs185142403
NM_000094.4(COL7A1):c.7414G>A (p.Gly2472Ser)
NM_000094.4(COL7A1):c.7424G>C (p.Gly2475Ala)
NM_000094.4(COL7A1):c.7474C>T (p.Arg2492Ter) rs765529435
NM_000094.4(COL7A1):c.7504G>A (p.Gly2502Arg)
NM_000094.4(COL7A1):c.7511G>T (p.Arg2504Leu) rs747583483
NM_000094.4(COL7A1):c.7579G>C (p.Gly2527Arg)
NM_000094.4(COL7A1):c.7630C>T (p.Arg2544Trp)
NM_000094.4(COL7A1):c.7643G>A (p.Gly2548Asp)
NM_000094.4(COL7A1):c.7669G>A (p.Gly2557Arg) rs2530843515
NM_000094.4(COL7A1):c.7701G>A (p.Glu2567=)
NM_000094.4(COL7A1):c.7723G>T (p.Gly2575Trp) rs760891216
NM_000094.4(COL7A1):c.7758+15A>T rs2530837569
NM_000094.4(COL7A1):c.7877G>C (p.Gly2626Ala)
NM_000094.4(COL7A1):c.7931G>A (p.Gly2644Glu)
NM_000094.4(COL7A1):c.8014G>A (p.Ala2672Thr)
NM_000094.4(COL7A1):c.8246G>A (p.Gly2749Glu) rs2107631988
NM_000094.4(COL7A1):c.8324G>A (p.Gly2775Asp) rs773146110
NM_000094.4(COL7A1):c.8335G>T (p.Glu2779Ter)
NM_000094.4(COL7A1):c.846+18A>G rs2531334687
NM_000094.4(COL7A1):c.846G>A (p.Glu282=) rs770216458
NM_000094.4(COL7A1):c.8476T>C (p.Ser2826Pro)
NM_000094.4(COL7A1):c.8569G>T (p.Glu2857Ter) rs372166543
NM_000094.4(COL7A1):c.86-14C>T
NM_000094.4(COL7A1):c.8620+18_8620+19insCGC rs138595277
NM_000094.4(COL7A1):c.8639T>C (p.Leu2880Pro)
NM_000094.4(COL7A1):c.8718T>C (p.Pro2906=)
NM_000094.4(COL7A1):c.8786G>A (p.Cys2929Tyr)
NM_000094.4(COL7A1):c.8800G>T (p.Val2934Phe) rs903839030

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