ClinVar Miner

List of variants in gene COL7A1 reported as likely pathogenic for Recessive dystrophic epidermolysis bullosa; Pretibial dystrophic epidermolysis bullosa; Dominant dystrophic epidermolysis bullosa with absence of skin; Transient bullous dermolysis of the newborn; Epidermolysis bullosa pruriginosa; Nonsyndromic congenital nail disorder 8; Generalized dominant dystrophic epidermolysis bullosa

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 119
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.7120G>A (p.Gly2374Arg) rs181430415 0.00005
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.7344+1G>T rs754469339 0.00003
NM_000094.4(COL7A1):c.4519-2del rs778443262 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.1984C>T (p.Gln662Ter) rs145236294 0.00001
NM_000094.4(COL7A1):c.3850G>A (p.Gly1284Ser) rs764353299 0.00001
NM_000094.4(COL7A1):c.4705G>A (p.Gly1569Arg) rs989893662 0.00001
NM_000094.4(COL7A1):c.5096C>T (p.Pro1699Leu) rs121912845 0.00001
NM_000094.4(COL7A1):c.5173G>A (p.Gly1725Arg) rs772195825 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.5870G>A (p.Arg1957Gln) rs1340588200 0.00001
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) rs121912855 0.00001
NM_000094.4(COL7A1):c.7104+1G>A rs772756089 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.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.1103del (p.Thr368fs)
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.1906+1G>T rs755961162
NM_000094.4(COL7A1):c.2288_2289insT (p.Ala765fs)
NM_000094.4(COL7A1):c.2440+2T>C
NM_000094.4(COL7A1):c.2463dup (p.Leu822fs) rs2045478123
NM_000094.4(COL7A1):c.266+1G>A
NM_000094.4(COL7A1):c.2993-2A>G rs1553612928
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.3830del (p.Pro1277fs) rs774436727
NM_000094.4(COL7A1):c.3832_3833del rs2107742434
NM_000094.4(COL7A1):c.3894+2T>C
NM_000094.4(COL7A1):c.3896G>T (p.Gly1299Val)
NM_000094.4(COL7A1):c.3986G>A (p.Gly1329Glu)
NM_000094.4(COL7A1):c.4012G>A (p.Gly1338Arg) rs1156352791
NM_000094.4(COL7A1):c.4102G>A (p.Gly1368Arg) rs2531170545
NM_000094.4(COL7A1):c.4271G>A (p.Gly1424Glu) rs775810281
NM_000094.4(COL7A1):c.4317_4318delinsA (p.Pro1441fs)
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.4555G>A (p.Gly1519Ser) rs1560237346
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.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.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.5736+1G>A
NM_000094.4(COL7A1):c.5737-2A>G rs1255401731
NM_000094.4(COL7A1):c.5756G>C (p.Gly1919Ala)
NM_000094.4(COL7A1):c.5767del (p.Glu1923fs) rs1575442816
NM_000094.4(COL7A1):c.58C>T (p.Arg20Ter) rs886039562
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.6023G>A (p.Arg2008His) rs1002845719
NM_000094.4(COL7A1):c.6026G>A (p.Gly2009Glu) rs1342925232
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.6440G>T (p.Gly2147Val)
NM_000094.4(COL7A1):c.6522_6537+1del
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.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.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.7459G>A (p.Gly2487Ser)
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.7994G>C (p.Gly2665Ala) rs753853134
NM_000094.4(COL7A1):c.8047-1G>A
NM_000094.4(COL7A1):c.8047G>T (p.Gly2683Cys)
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.8528-1G>A
NM_000094.4(COL7A1):c.8744_8745del (p.Asn2915fs)
NM_000094.4(COL7A1):c.8818+2T>A rs1171778175
NM_000094.4(COL7A1):c.928delinsAA (p.Leu310fs)

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.