ClinVar Miner

List of variants in gene COL7A1 reported as likely benign for Dystrophic epidermolysis bullosa

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP
NM_000094.3(COL7A1):c.1527C>T (p.Ser509=) rs78149541
NM_000094.3(COL7A1):c.266+2T>C rs561997536
NM_000094.3(COL7A1):c.3359G>A (p.Arg1120Lys) rs2228563
NM_000094.3(COL7A1):c.3889G>A (p.Glu1297Lys) rs149881350
NM_000094.3(COL7A1):c.3893G>A (p.Arg1298Lys) rs530442803
NM_000094.3(COL7A1):c.4312G>A (p.Val1438Ile) rs148625586
NM_000094.3(COL7A1):c.4373C>T (p.Pro1458Leu) rs79378857
NM_000094.3(COL7A1):c.4559C>T (p.Pro1520Leu) rs140114392
NM_000094.3(COL7A1):c.4613G>A (p.Arg1538His) rs2229824
NM_000094.3(COL7A1):c.4782+9A>T rs369635501
NM_000094.3(COL7A1):c.5154+5T>C rs2854400
NM_000094.3(COL7A1):c.5259C>T (p.Pro1753=) rs151261530
NM_000094.3(COL7A1):c.54G>C (p.Ala18=) rs35899847
NM_000094.3(COL7A1):c.5988C>T (p.Ile1996=) rs146901730
NM_000094.3(COL7A1):c.59G>C (p.Arg20Pro) rs755340663
NM_000094.3(COL7A1):c.630C>T (p.Leu210=) rs117857033
NM_000094.3(COL7A1):c.6357G>A (p.Pro2119=) rs142298581
NM_000094.3(COL7A1):c.7008G>A (p.Gly2336=) rs117723065
NM_000094.3(COL7A1):c.7191C>A (p.Pro2397=) rs34360255
NM_000094.3(COL7A1):c.7984-7del rs66737445
NM_000094.3(COL7A1):c.802C>T (p.Pro268Ser) rs35623035
NM_000094.3(COL7A1):c.8095G>A (p.Glu2699Lys) rs200938473
NM_000094.3(COL7A1):c.8568C>T (p.Ser2856=) rs148454724
NM_000094.4(COL7A1):c.*162C>T
NM_000094.4(COL7A1):c.1907G>T rs116005007
NM_000094.4(COL7A1):c.4612C>T (p.Arg1538Cys) rs149711883

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.