ClinVar Miner

List of variants in gene COL7A1 reported by Fulgent Genetics, Fulgent Genetics

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Gene type:
ClinVar version:
Total variants: 221
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HGVS dbSNP gnomAD frequency
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.3359G>A (p.Arg1120Lys) rs2228563 0.00277
NM_000094.4(COL7A1):c.802C>T (p.Pro268Ser) rs35623035 0.00276
NM_000094.4(COL7A1):c.5572G>A (p.Glu1858Lys) rs147633212 0.00049
NM_000094.4(COL7A1):c.4585C>T (p.Arg1529Cys) rs144557024 0.00032
NM_000094.4(COL7A1):c.8780G>A (p.Arg2927His) rs150903058 0.00021
NM_000094.4(COL7A1):c.1882C>T (p.Arg628Trp) rs148836522 0.00019
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.266+2T>C rs561997536 0.00013
NM_000094.4(COL7A1):c.4889G>A (p.Arg1630Gln) rs201196696 0.00011
NM_000094.4(COL7A1):c.2969G>A (p.Arg990Gln) rs568498471 0.00010
NM_000094.4(COL7A1):c.4978C>T (p.Arg1660Trp) rs147285396 0.00010
NM_000094.4(COL7A1):c.5820G>A (p.Pro1940=) rs200972872 0.00010
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg) rs121912856 0.00008
NM_000094.4(COL7A1):c.1268C>T (p.Pro423Leu) rs147947287 0.00007
NM_000094.4(COL7A1):c.4000C>T (p.Arg1334Cys) rs141720633 0.00007
NM_000094.4(COL7A1):c.3566T>C (p.Met1189Thr) rs371470848 0.00006
NM_000094.4(COL7A1):c.6021C>A (p.Asp2007Glu) rs199603961 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.7344G>A (p.Val2448=) rs201728948 0.00006
NM_000094.4(COL7A1):c.7120G>A (p.Gly2374Arg) rs181430415 0.00005
NM_000094.4(COL7A1):c.7864C>T (p.Arg2622Trp) rs139318843 0.00005
NM_000094.4(COL7A1):c.3203G>A (p.Arg1068His) rs753761607 0.00004
NM_000094.4(COL7A1):c.4561G>C (p.Glu1521Gln) rs373745858 0.00004
NM_000094.4(COL7A1):c.5097G>A (p.Pro1699=) rs369034739 0.00004
NM_000094.4(COL7A1):c.8206G>A (p.Glu2736Lys) rs779942952 0.00004
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.5929C>T (p.Arg1977Cys) rs765130674 0.00003
NM_000094.4(COL7A1):c.6261C>A (p.Pro2087=) rs761393259 0.00003
NM_000094.4(COL7A1):c.6501+1G>C rs759644973 0.00003
NM_000094.4(COL7A1):c.7344+1G>T rs754469339 0.00003
NM_000094.4(COL7A1):c.8289C>T (p.Gly2763=) rs763764765 0.00003
NM_000094.4(COL7A1):c.8440C>T (p.Arg2814Ter) rs143457874 0.00003
NM_000094.4(COL7A1):c.1732C>T (p.Arg578Ter) rs144023803 0.00002
NM_000094.4(COL7A1):c.2548G>A (p.Asp850Asn) rs538387822 0.00002
NM_000094.4(COL7A1):c.2734C>T (p.Leu912=) rs773201784 0.00002
NM_000094.4(COL7A1):c.3602G>A (p.Arg1201His) rs189206728 0.00002
NM_000094.4(COL7A1):c.4018C>T (p.Arg1340Ter) rs761927109 0.00002
NM_000094.4(COL7A1):c.4519-2del rs778443262 0.00002
NM_000094.4(COL7A1):c.4568C>T (p.Pro1523Leu) rs529321970 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.5951C>T (p.Ser1984Leu) rs200551525 0.00002
NM_000094.4(COL7A1):c.6091G>A (p.Gly2031Ser) rs121912838 0.00002
NM_000094.4(COL7A1):c.6262G>A (p.Gly2088Arg) rs573432153 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.151C>G (p.Arg51Gly) rs775852765 0.00001
NM_000094.4(COL7A1):c.1564C>T (p.Gln522Ter) rs770684431 0.00001
NM_000094.4(COL7A1):c.1573C>T (p.Arg525Ter) rs368007918 0.00001
NM_000094.4(COL7A1):c.1837C>T (p.Arg613Ter) rs759634066 0.00001
NM_000094.4(COL7A1):c.1984C>T (p.Gln662Ter) rs145236294 0.00001
NM_000094.4(COL7A1):c.2005C>T (p.Arg669Ter) rs780261665 0.00001
NM_000094.4(COL7A1):c.2202G>A (p.Glu734=) rs549271654 0.00001
NM_000094.4(COL7A1):c.302G>T (p.Gly101Val) rs973642161 0.00001
NM_000094.4(COL7A1):c.3850G>A (p.Gly1284Ser) rs764353299 0.00001
NM_000094.4(COL7A1):c.4027C>T (p.Arg1343Ter) rs761234904 0.00001
NM_000094.4(COL7A1):c.4162C>T (p.Arg1388Cys) rs565472139 0.00001
NM_000094.4(COL7A1):c.4278G>A (p.Pro1426=) rs749738987 0.00001
NM_000094.4(COL7A1):c.4705G>A (p.Gly1569Arg) rs989893662 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.5048_5051dup (p.Asn1684fs) rs1276678432 0.00001
NM_000094.4(COL7A1):c.5096C>T (p.Pro1699Leu) rs121912845 0.00001
NM_000094.4(COL7A1):c.5108G>A (p.Gly1703Glu) rs770304825 0.00001
NM_000094.4(COL7A1):c.5173G>A (p.Gly1725Arg) rs772195825 0.00001
NM_000094.4(COL7A1):c.5314C>T (p.Arg1772Trp) rs1032335328 0.00001
NM_000094.4(COL7A1):c.5532+5G>A rs1210912397 0.00001
NM_000094.4(COL7A1):c.5597G>C (p.Gly1866Ala) rs1342397080 0.00001
NM_000094.4(COL7A1):c.565C>T (p.Gln189Ter) rs1486141784 0.00001
NM_000094.4(COL7A1):c.5701G>A (p.Gly1901Ser) rs762189891 0.00001
NM_000094.4(COL7A1):c.5870G>A (p.Arg1957Gln) rs1340588200 0.00001
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) rs121912855 0.00001
NM_000094.4(COL7A1):c.6395G>A (p.Gly2132Asp) rs755669902 0.00001
NM_000094.4(COL7A1):c.6781C>T (p.Arg2261Ter) rs772381373 0.00001
NM_000094.4(COL7A1):c.6994C>T (p.Arg2332Ter) rs765027608 0.00001
NM_000094.4(COL7A1):c.7078G>A (p.Gly2360Arg) rs916512411 0.00001
NM_000094.4(COL7A1):c.7104+1G>A rs772756089 0.00001
NM_000094.4(COL7A1):c.7234C>T (p.Arg2412Ter) rs1342522878 0.00001
NM_000094.4(COL7A1):c.7334C>T (p.Pro2445Leu) rs750113696 0.00001
NM_000094.4(COL7A1):c.7363G>A (p.Gly2455Arg) rs754075625 0.00001
NM_000094.4(COL7A1):c.7485+5G>A rs988031901 0.00001
NM_000094.4(COL7A1):c.7615-2A>T rs986004460 0.00001
NM_000094.4(COL7A1):c.7865G>A (p.Arg2622Gln) rs368529673 0.00001
NM_000094.4(COL7A1):c.7939G>A (p.Gly2647Ser) rs749788045 0.00001
NM_000094.4(COL7A1):c.7957G>A (p.Gly2653Arg) rs121912851 0.00001
NM_000094.4(COL7A1):c.8003G>C (p.Gly2668Ala) rs539565729 0.00001
NM_000094.4(COL7A1):c.8234G>A (p.Arg2745Gln) rs377182638 0.00001
NM_000094.4(COL7A1):c.8393T>A (p.Met2798Lys) rs121912828 0.00001
NM_000094.4(COL7A1):c.8457T>C (p.Tyr2819=) rs751768659 0.00001
NM_000094.4(COL7A1):c.1103del (p.Thr368fs)
NM_000094.4(COL7A1):c.1215C>T (p.Pro405=) rs200882719
NM_000094.4(COL7A1):c.1240+1G>T rs2107790996
NM_000094.4(COL7A1):c.1294del (p.Leu432fs)
NM_000094.4(COL7A1):c.1357+1G>T
NM_000094.4(COL7A1):c.1589del (p.Pro530fs) rs2045697078
NM_000094.4(COL7A1):c.1637-1G>A rs886058642
NM_000094.4(COL7A1):c.1906+1G>T rs755961162
NM_000094.4(COL7A1):c.2288_2289insT (p.Ala765fs)
NM_000094.4(COL7A1):c.2318_2321dup (p.Glu774delinsAspTer) rs1064797079
NM_000094.4(COL7A1):c.2440+2T>C
NM_000094.4(COL7A1):c.2463dup (p.Leu822fs) rs2045478123
NM_000094.4(COL7A1):c.2471dup (p.Asn825fs) rs746056280
NM_000094.4(COL7A1):c.266+1G>A
NM_000094.4(COL7A1):c.2699G>A (p.Trp900Ter) rs1349541188
NM_000094.4(COL7A1):c.2785C>T (p.Gln929Ter) rs2107760251
NM_000094.4(COL7A1):c.2993-2A>G rs1553612928
NM_000094.4(COL7A1):c.3039G>T (p.Gln1013His) rs570498790
NM_000094.4(COL7A1):c.3130C>T (p.Gln1044Ter) rs1205027821
NM_000094.4(COL7A1):c.3265C>T (p.Gln1089Ter) rs1553612617
NM_000094.4(COL7A1):c.329_332dup (p.Ser111_Tyr112insTer) rs1256976418
NM_000094.4(COL7A1):c.3568_3581del (p.Leu1190fs)
NM_000094.4(COL7A1):c.361del (p.Ala121fs) rs2531351123
NM_000094.4(COL7A1):c.3636del (p.Phe1213fs) rs2107746826
NM_000094.4(COL7A1):c.3662del (p.Ser1221fs)
NM_000094.4(COL7A1):c.3826C>T (p.Leu1276Phe) rs2045195228
NM_000094.4(COL7A1):c.3830del (p.Pro1277fs) rs774436727
NM_000094.4(COL7A1):c.3832_3833del rs2107742434
NM_000094.4(COL7A1):c.3840del (p.Gly1281fs) rs757688782
NM_000094.4(COL7A1):c.3894+2T>C
NM_000094.4(COL7A1):c.3896G>T (p.Gly1299Val)
NM_000094.4(COL7A1):c.3951_3959dup (p.Gly1320_Ala1321insThrProGly)
NM_000094.4(COL7A1):c.3986G>A (p.Gly1329Glu)
NM_000094.4(COL7A1):c.4012G>A (p.Gly1338Arg) rs1156352791
NM_000094.4(COL7A1):c.409C>T (p.Arg137Ter) rs1203706188
NM_000094.4(COL7A1):c.4102G>A (p.Gly1368Arg) rs2531170545
NM_000094.4(COL7A1):c.4172dup (p.Gly1392fs)
NM_000094.4(COL7A1):c.4271G>A (p.Gly1424Glu) rs775810281
NM_000094.4(COL7A1):c.4317_4318delinsA (p.Pro1441fs)
NM_000094.4(COL7A1):c.4414C>A (p.Pro1472Thr) rs775987562
NM_000094.4(COL7A1):c.4483-1G>A rs2044891130
NM_000094.4(COL7A1):c.4492G>A (p.Gly1498Arg) rs2531134507
NM_000094.4(COL7A1):c.4506_4516del (p.Ala1503fs) rs1267995796
NM_000094.4(COL7A1):c.4552A>G (p.Lys1518Glu) rs2107720058
NM_000094.4(COL7A1):c.4555G>A (p.Gly1519Ser) rs1560237346
NM_000094.4(COL7A1):c.4568del (p.Pro1523fs) rs778165989
NM_000094.4(COL7A1):c.4665_4667delinsCGG (p.Glu1555_Lys1556delinsAspGly) rs2531113923
NM_000094.4(COL7A1):c.4723G>T (p.Gly1575Cys) rs1419526946
NM_000094.4(COL7A1):c.4793G>C (p.Gly1598Ala) rs2531106124
NM_000094.4(COL7A1):c.4871dup (p.Gly1625fs)
NM_000094.4(COL7A1):c.4892G>A (p.Gly1631Glu)
NM_000094.4(COL7A1):c.4965C>T (p.Gly1655=) rs1560232515
NM_000094.4(COL7A1):c.502del (p.Val168fs) rs1301235105
NM_000094.4(COL7A1):c.5107G>T (p.Gly1703Ter) rs1202107642
NM_000094.4(COL7A1):c.5108_5109insTTCCCCCAGG (p.Pro1704fs)
NM_000094.4(COL7A1):c.5261dup (p.Gly1755fs) rs1057517723
NM_000094.4(COL7A1):c.5304_5307+1del rs781583687
NM_000094.4(COL7A1):c.5358_5359del (p.Lys1786fs)
NM_000094.4(COL7A1):c.5388+2T>C
NM_000094.4(COL7A1):c.5656C>T (p.Gln1886Ter) rs2044329211
NM_000094.4(COL7A1):c.5720_5721delinsAT (p.Gly1907Asp) rs1057517725
NM_000094.4(COL7A1):c.5736+1G>A
NM_000094.4(COL7A1):c.5756G>C (p.Gly1919Ala)
NM_000094.4(COL7A1):c.5767del (p.Glu1923fs) rs1575442816
NM_000094.4(COL7A1):c.5797C>T (p.Arg1933Ter) rs757415879
NM_000094.4(COL7A1):c.58C>T (p.Arg20Ter) rs886039562
NM_000094.4(COL7A1):c.58_70del (p.Arg20fs) rs2045987838
NM_000094.4(COL7A1):c.5945G>A (p.Gly1982Glu)
NM_000094.4(COL7A1):c.5960del (p.Gln1987fs)
NM_000094.4(COL7A1):c.5998G>A (p.Gly2000Arg) rs2530975216
NM_000094.4(COL7A1):c.6022C>G (p.Arg2008Gly) rs1055680335
NM_000094.4(COL7A1):c.6022C>T (p.Arg2008Cys) rs1055680335
NM_000094.4(COL7A1):c.6023G>A (p.Arg2008His) rs1002845719
NM_000094.4(COL7A1):c.6026G>A (p.Gly2009Glu) rs1342925232
NM_000094.4(COL7A1):c.6082G>A (p.Gly2028Arg) rs762162799
NM_000094.4(COL7A1):c.6172G>T (p.Gly2058Ter)
NM_000094.4(COL7A1):c.6183_6189dup (p.Gly2064fs)
NM_000094.4(COL7A1):c.619_620delinsTA (p.Leu207Ter)
NM_000094.4(COL7A1):c.6341G>A (p.Gly2114Asp) rs2044175577
NM_000094.4(COL7A1):c.6349-2del rs2107669831
NM_000094.4(COL7A1):c.6352G>T (p.Glu2118Ter)
NM_000094.4(COL7A1):c.6385G>A (p.Gly2129Arg)
NM_000094.4(COL7A1):c.6394-1G>A
NM_000094.4(COL7A1):c.6440G>T (p.Gly2147Val)
NM_000094.4(COL7A1):c.6522_6537+1del
NM_000094.4(COL7A1):c.6527dup (p.Gly2177fs) rs768128088
NM_000094.4(COL7A1):c.6646G>T (p.Gly2216Ter)
NM_000094.4(COL7A1):c.6653G>C (p.Gly2218Ala)
NM_000094.4(COL7A1):c.6670G>A (p.Gly2224Arg)
NM_000094.4(COL7A1):c.6696del (p.Gly2233fs) rs749256529
NM_000094.4(COL7A1):c.6751-1G>T rs1420754603
NM_000094.4(COL7A1):c.6989G>A (p.Gly2330Asp)
NM_000094.4(COL7A1):c.6997G>A (p.Gly2333Arg)
NM_000094.4(COL7A1):c.6998G>T (p.Gly2333Val) rs2530896427
NM_000094.4(COL7A1):c.7097G>C (p.Gly2366Ala) rs2043899331
NM_000094.4(COL7A1):c.7104+3A>T rs749077987
NM_000094.4(COL7A1):c.7191C>A (p.Pro2397=) rs34360255
NM_000094.4(COL7A1):c.724G>A (p.Glu242Lys) rs549872555
NM_000094.4(COL7A1):c.7270C>T (p.Arg2424Trp) rs1189942401
NM_000094.4(COL7A1):c.7344+1G>A
NM_000094.4(COL7A1):c.7345-1G>T
NM_000094.4(COL7A1):c.7345-2A>G
NM_000094.4(COL7A1):c.7405G>A (p.Gly2469Arg)
NM_000094.4(COL7A1):c.7411C>T (p.Arg2471Ter) rs121912852
NM_000094.4(COL7A1):c.7459G>A (p.Gly2487Ser)
NM_000094.4(COL7A1):c.7474C>T (p.Arg2492Ter) rs765529435
NM_000094.4(COL7A1):c.7557+1G>T rs786204774
NM_000094.4(COL7A1):c.7579G>C (p.Gly2527Arg)
NM_000094.4(COL7A1):c.7686+1G>C
NM_000094.4(COL7A1):c.7686+2T>C
NM_000094.4(COL7A1):c.7723G>T (p.Gly2575Trp) rs760891216
NM_000094.4(COL7A1):c.7787del (p.Gly2596fs) rs759990189
NM_000094.4(COL7A1):c.7994G>C (p.Gly2665Ala) rs753853134
NM_000094.4(COL7A1):c.8020G>C (p.Gly2674Arg) rs2107635006
NM_000094.4(COL7A1):c.8047-1G>A
NM_000094.4(COL7A1):c.8047G>T (p.Gly2683Cys)
NM_000094.4(COL7A1):c.8093del (p.Gly2698fs)
NM_000094.4(COL7A1):c.8219G>C (p.Gly2740Ala) rs745691610
NM_000094.4(COL7A1):c.8227-1G>A
NM_000094.4(COL7A1):c.8278G>A (p.Gly2760Arg) rs1064797081
NM_000094.4(COL7A1):c.8304+1G>A rs759579761
NM_000094.4(COL7A1):c.8329C>T (p.Arg2777Ter) rs886039330
NM_000094.4(COL7A1):c.8528-1G>A
NM_000094.4(COL7A1):c.8744_8745del (p.Asn2915fs)
NM_000094.4(COL7A1):c.8818+2T>A rs1171778175

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