ClinVar Miner

List of variants in gene COL7A1 reported as likely pathogenic for Recessive dystrophic epidermolysis bullosa

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 49
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.8371C>T (p.Arg2791Trp) rs142566193 0.00109
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=) rs767539005 0.00006
NM_000094.4(COL7A1):c.682+1G>A rs775288140 0.00003
NM_000094.4(COL7A1):c.5560G>A (p.Gly1854Arg) rs146234310 0.00002
NM_000094.4(COL7A1):c.520G>A (p.Gly174Arg) rs1245411910 0.00001
NM_000094.3(COL7A1):c.4199del rs2045013494
NM_000094.4(COL7A1):c.1507+4A>T rs2107788093
NM_000094.4(COL7A1):c.2171-2A>G rs1158674229
NM_000094.4(COL7A1):c.2711-1G>C rs2107760970
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.3504del (p.Pro1168_Leu1169insTer) rs730880286
NM_000094.4(COL7A1):c.3678_3681del (p.Ser1227fs)
NM_000094.4(COL7A1):c.3974del (p.Lys1325fs)
NM_000094.4(COL7A1):c.4012G>A (p.Gly1338Arg) rs1156352791
NM_000094.4(COL7A1):c.4350_4351del (p.Glu1451fs)
NM_000094.4(COL7A1):c.4667del (p.Lys1556fs)
NM_000094.4(COL7A1):c.4782+1G>A
NM_000094.4(COL7A1):c.4980+1G>C rs730880285
NM_000094.4(COL7A1):c.5017G>A (p.Gly1673Arg) rs2107706875
NM_000094.4(COL7A1):c.5053-5_5055dup
NM_000094.4(COL7A1):c.5124+2T>C rs2107702819
NM_000094.4(COL7A1):c.5605G>C (p.Gly1869Arg) rs1057517724
NM_000094.4(COL7A1):c.5783G>A (p.Gly1928Glu) rs1560219171
NM_000094.4(COL7A1):c.6022C>T (p.Arg2008Cys) rs1055680335
NM_000094.4(COL7A1):c.6023G>T (p.Arg2008Leu)
NM_000094.4(COL7A1):c.6081dup (p.Gly2028fs) rs780623622
NM_000094.4(COL7A1):c.6146G>A (p.Gly2049Glu) rs1410793870
NM_000094.4(COL7A1):c.6652-2A>G
NM_000094.4(COL7A1):c.682+5G>A rs767647070
NM_000094.4(COL7A1):c.6926A>C (p.Lys2309Thr) rs2107657132
NM_000094.4(COL7A1):c.7069G>C (p.Gly2357Arg)
NM_000094.4(COL7A1):c.7104+3A>T rs749077987
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)
NM_000094.4(COL7A1):c.7768G>C (p.Gly2590Arg) rs2043715843
NM_000094.4(COL7A1):c.8047-2A>C rs2107633400
NM_000094.4(COL7A1):c.8075G>A (p.Gly2692Asp)
NM_000094.4(COL7A1):c.8200G>C (p.Gly2734Arg) rs2107632563
NM_000094.4(COL7A1):c.8226+1G>C
NM_000094.4(COL7A1):c.8245G>T (p.Gly2749Ter)
NM_000094.4(COL7A1):c.8304+1G>A rs759579761
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.977-1G>C rs2107793500

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.