ClinVar Miner

List of variants in gene COL7A1 reported as likely pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 173
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.6206G>A (p.Arg2069His) rs773938350 0.00005
NM_000094.4(COL7A1):c.5097G>A (p.Pro1699=) rs369034739 0.00004
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.5441G>A (p.Arg1814His) rs756258247 0.00002
NM_000094.4(COL7A1):c.7104+1G>A rs772756089 0.00002
NM_000094.4(COL7A1):c.7437_7440+4del rs750153731 0.00002
NM_000094.4(COL7A1):c.1358-2A>G rs1432916221 0.00001
NM_000094.4(COL7A1):c.2587+40G>A rs1158768165 0.00001
NM_000094.4(COL7A1):c.3831+1G>T rs776841521 0.00001
NM_000094.4(COL7A1):c.4900-2A>C rs1431252268 0.00001
NM_000094.4(COL7A1):c.5052+1G>A rs766769445 0.00001
NM_000094.4(COL7A1):c.5096C>T (p.Pro1699Leu) rs121912845 0.00001
NM_000094.4(COL7A1):c.683-1G>A rs2045812473 0.00001
NM_000094.4(COL7A1):c.7115G>A (p.Gly2372Glu) rs1233025207 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.8221_8226+1del rs753705135 0.00001
NM_000094.4(COL7A1):c.8234G>A (p.Arg2745Gln) rs377182638 0.00001
NM_000094.4(COL7A1):c.8440+1G>A rs1001774733 0.00001
NM_000094.4(COL7A1):c.1093+1G>A rs1307626649
NM_000094.4(COL7A1):c.1094-7_1101del
NM_000094.4(COL7A1):c.1240+1G>T rs2107790996
NM_000094.4(COL7A1):c.1240+2T>A
NM_000094.4(COL7A1):c.1357+2T>A
NM_000094.4(COL7A1):c.1780+1G>T
NM_000094.4(COL7A1):c.1781-2A>G rs2045623626
NM_000094.4(COL7A1):c.1906+1G>T
NM_000094.4(COL7A1):c.1907-2A>G
NM_000094.4(COL7A1):c.2171-2A>G rs1158674229
NM_000094.4(COL7A1):c.2171-2A>T
NM_000094.4(COL7A1):c.2315-11_2316del
NM_000094.4(COL7A1):c.2582_2587+1del
NM_000094.4(COL7A1):c.2587+2T>C
NM_000094.4(COL7A1):c.2993-1G>C
NM_000094.4(COL7A1):c.2993-2A>G rs1553612928
NM_000094.4(COL7A1):c.3139+1G>C
NM_000094.4(COL7A1):c.3723+1G>A
NM_000094.4(COL7A1):c.3760-1G>A rs2107744367
NM_000094.4(COL7A1):c.3786+1G>A
NM_000094.4(COL7A1):c.3787-2A>G
NM_000094.4(COL7A1):c.3831+2T>C rs2107742867
NM_000094.4(COL7A1):c.3894+1G>A rs2107741719
NM_000094.4(COL7A1):c.3895-34_3905del
NM_000094.4(COL7A1):c.3975+1G>T
NM_000094.4(COL7A1):c.3975+2T>A rs753368984
NM_000094.4(COL7A1):c.4012-2A>C rs2107736723
NM_000094.4(COL7A1):c.4047+2T>C rs1365148358
NM_000094.4(COL7A1):c.4048-2A>G
NM_000094.4(COL7A1):c.4120-1G>A rs1299648939
NM_000094.4(COL7A1):c.4120-1G>C rs1299648939
NM_000094.4(COL7A1):c.4147G>A (p.Gly1383Arg) rs2045046700
NM_000094.4(COL7A1):c.4197+1G>T rs1401166141
NM_000094.4(COL7A1):c.4224+1G>A rs769954836
NM_000094.4(COL7A1):c.4278+1G>A
NM_000094.4(COL7A1):c.4278+2T>C
NM_000094.4(COL7A1):c.4279-1G>A
NM_000094.4(COL7A1):c.4341+2T>C rs2044967603
NM_000094.4(COL7A1):c.4401+2T>A
NM_000094.4(COL7A1):c.4402-5_4402-2del
NM_000094.4(COL7A1):c.4437+1G>C rs2107725932
NM_000094.4(COL7A1):c.4437+2T>G rs2107725917
NM_000094.4(COL7A1):c.4438-2A>G
NM_000094.4(COL7A1):c.4483-1G>A rs2044891130
NM_000094.4(COL7A1):c.4519-2A>C
NM_000094.4(COL7A1):c.4564-2A>C
NM_000094.4(COL7A1):c.4574G>A (p.Gly1525Glu)
NM_000094.4(COL7A1):c.4599+2T>C
NM_000094.4(COL7A1):c.4600-1G>A rs2107717836
NM_000094.4(COL7A1):c.462_520+17del
NM_000094.4(COL7A1):c.4636-1G>A
NM_000094.4(COL7A1):c.4636-2A>G
NM_000094.4(COL7A1):c.4668+1G>C
NM_000094.4(COL7A1):c.4705G>A (p.Gly1569Arg)
NM_000094.4(COL7A1):c.4723-2A>C
NM_000094.4(COL7A1):c.4818+1G>C
NM_000094.4(COL7A1):c.4818+3_4818+6dup
NM_000094.4(COL7A1):c.4864G>A (p.Gly1622Ser)
NM_000094.4(COL7A1):c.4900-1G>C
NM_000094.4(COL7A1):c.4900-2A>G rs1431252268
NM_000094.4(COL7A1):c.4936-1G>A rs2044708601
NM_000094.4(COL7A1):c.4981G>A (p.Gly1661Arg)
NM_000094.4(COL7A1):c.4981G>C (p.Gly1661Arg)
NM_000094.4(COL7A1):c.5125-2A>T rs2044605646
NM_000094.4(COL7A1):c.520+1G>C rs2107799999
NM_000094.4(COL7A1):c.520+1G>T rs2107799999
NM_000094.4(COL7A1):c.521-2A>G rs112176369
NM_000094.4(COL7A1):c.521-6_521-1del
NM_000094.4(COL7A1):c.5235+1G>C
NM_000094.4(COL7A1):c.5271+1G>A
NM_000094.4(COL7A1):c.5307+1G>A rs2107697936
NM_000094.4(COL7A1):c.5309G>T (p.Gly1770Val)
NM_000094.4(COL7A1):c.5440C>G (p.Arg1814Gly)
NM_000094.4(COL7A1):c.5529_5532+7del rs2107690909
NM_000094.4(COL7A1):c.5532+1G>A rs767182886
NM_000094.4(COL7A1):c.5604+2T>C rs2107683470
NM_000094.4(COL7A1):c.5737-1G>A rs1575442885
NM_000094.4(COL7A1):c.5737-2A>G
NM_000094.4(COL7A1):c.5820+1G>C rs2107679315
NM_000094.4(COL7A1):c.5820+2T>C rs1575442251
NM_000094.4(COL7A1):c.5821-2A>G rs111775311
NM_000094.4(COL7A1):c.5869C>G (p.Arg1957Gly)
NM_000094.4(COL7A1):c.5979+1G>A
NM_000094.4(COL7A1):c.6023G>C (p.Arg2008Pro)
NM_000094.4(COL7A1):c.6034G>C (p.Gly2012Arg)
NM_000094.4(COL7A1):c.6044G>T (p.Gly2015Val) rs121912843
NM_000094.4(COL7A1):c.6092G>T (p.Gly2031Val)
NM_000094.4(COL7A1):c.6146G>T (p.Gly2049Val)
NM_000094.4(COL7A1):c.6173G>A (p.Gly2058Glu)
NM_000094.4(COL7A1):c.6181-1G>T
NM_000094.4(COL7A1):c.6181-4del rs2044209233
NM_000094.4(COL7A1):c.6217-2A>G
NM_000094.4(COL7A1):c.6217-2del rs2044200662
NM_000094.4(COL7A1):c.6226G>A (p.Gly2076Ser)
NM_000094.4(COL7A1):c.6341G>C (p.Gly2114Ala)
NM_000094.4(COL7A1):c.6341G>T (p.Gly2114Val) rs2044175577
NM_000094.4(COL7A1):c.6349-2del rs2107669831
NM_000094.4(COL7A1):c.6393+1G>C rs2107669589
NM_000094.4(COL7A1):c.6394-1G>C rs2107668943
NM_000094.4(COL7A1):c.6456+1G>C rs2107668482
NM_000094.4(COL7A1):c.6456+2T>C
NM_000094.4(COL7A1):c.6476G>T (p.Gly2159Val)
NM_000094.4(COL7A1):c.6502-2A>G rs773265287
NM_000094.4(COL7A1):c.6537+1G>A
NM_000094.4(COL7A1):c.6538-2A>C rs2044089924
NM_000094.4(COL7A1):c.6750+1G>A
NM_000094.4(COL7A1):c.6788G>T (p.Gly2263Val) rs1405839597
NM_000094.4(COL7A1):c.6815G>C (p.Gly2272Ala)
NM_000094.4(COL7A1):c.6832-1G>T rs2107658703
NM_000094.4(COL7A1):c.6900+4A>G rs1057518706
NM_000094.4(COL7A1):c.6901-5_6903del rs2107657268
NM_000094.4(COL7A1):c.6936+1G>C
NM_000094.4(COL7A1):c.7068+2T>C rs2107654130
NM_000094.4(COL7A1):c.7068+2T>G rs2107654130
NM_000094.4(COL7A1):c.7068+2_7068+3del rs2107654116
NM_000094.4(COL7A1):c.7070G>A (p.Gly2357Asp)
NM_000094.4(COL7A1):c.7266_7272+6del
NM_000094.4(COL7A1):c.7309G>A (p.Gly2437Arg)
NM_000094.4(COL7A1):c.7344+1G>C rs754469339
NM_000094.4(COL7A1):c.7344+2T>C
NM_000094.4(COL7A1):c.7345-1G>A rs1229102944
NM_000094.4(COL7A1):c.7440+1G>A
NM_000094.4(COL7A1):c.7521+1G>A rs1560200657
NM_000094.4(COL7A1):c.7550G>A (p.Gly2517Asp)
NM_000094.4(COL7A1):c.7557+1G>T rs786204774
NM_000094.4(COL7A1):c.7598G>A (p.Gly2533Asp)
NM_000094.4(COL7A1):c.7615-1G>A
NM_000094.4(COL7A1):c.7723G>T (p.Gly2575Trp)
NM_000094.4(COL7A1):c.7758+2C>A rs2107639630
NM_000094.4(COL7A1):c.7759-2A>G rs2043717214
NM_000094.4(COL7A1):c.7789_7794+2del rs2107638414
NM_000094.4(COL7A1):c.7865G>C (p.Arg2622Pro) rs368529673
NM_000094.4(COL7A1):c.7875+1G>C rs2107637140
NM_000094.4(COL7A1):c.7875+1G>T
NM_000094.4(COL7A1):c.7929+1G>A rs2107636494
NM_000094.4(COL7A1):c.7966G>C (p.Gly2656Arg)
NM_000094.4(COL7A1):c.7967G>T (p.Gly2656Val) rs557951372
NM_000094.4(COL7A1):c.7983+1G>C rs2107635603
NM_000094.4(COL7A1):c.7984-1G>T
NM_000094.4(COL7A1):c.8111G>A (p.Gly2704Glu) rs2107632852
NM_000094.4(COL7A1):c.8226+1G>T
NM_000094.4(COL7A1):c.8227-1G>C rs2043625281
NM_000094.4(COL7A1):c.8246G>A (p.Gly2749Glu) rs2107631988
NM_000094.4(COL7A1):c.82A>G (p.Arg28Gly)
NM_000094.4(COL7A1):c.8305-2A>C rs2107631431
NM_000094.4(COL7A1):c.8324G>A (p.Gly2775Asp)
NM_000094.4(COL7A1):c.8333G>A (p.Gly2778Asp)
NM_000094.4(COL7A1):c.8408-7_8419del rs2043573440
NM_000094.4(COL7A1):c.8441-1G>A
NM_000094.4(COL7A1):c.847-1_847delinsCA rs2107795483
NM_000094.4(COL7A1):c.86-1G>A rs2107807874
NM_000094.4(COL7A1):c.8626T>C (p.Cys2876Arg)
NM_000094.4(COL7A1):c.977-2A>T rs2107793510

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.