ClinVar Miner

Variants in gene COL7A1 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 57
Download table as spreadsheet
HGVS dbSNP
NM_000094.3(COL7A1):c.1613G>A (p.Arg538His) rs138791004
NM_000094.3(COL7A1):c.2392G>A (p.Gly798Arg) rs202237834
NM_000094.3(COL7A1):c.4559C>T (p.Pro1520Leu) rs140114392
NM_000094.3(COL7A1):c.4782+9A>T rs369635501
NM_000094.3(COL7A1):c.5259C>T (p.Pro1753=) rs151261530
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.724G>A (p.Glu242Lys) rs549872555
NM_000094.3(COL7A1):c.8095G>A (p.Glu2699Lys) rs200938473
NM_000094.3(COL7A1):c.8530C>T (p.Arg2844Trp) rs138002006
NM_000094.3(COL7A1):c.8568C>T (p.Ser2856=) rs148454724
NM_000094.3(COL7A1):c.923T>C (p.Ile308Thr) rs145738101
NM_000094.4(COL7A1):c.1167G>A (p.Thr389=)
NM_000094.4(COL7A1):c.1215C>T (p.Pro405=)
NM_000094.4(COL7A1):c.1241-4G>A
NM_000094.4(COL7A1):c.1428G>A (p.Pro476=)
NM_000094.4(COL7A1):c.1910C>T (p.Pro637Leu)
NM_000094.4(COL7A1):c.2100A>C rs756201098
NM_000094.4(COL7A1):c.2202G>A (p.Glu734=)
NM_000094.4(COL7A1):c.2734C>T (p.Leu912=)
NM_000094.4(COL7A1):c.2792G>A (p.Arg931His)
NM_000094.4(COL7A1):c.2793C>T (p.Arg931=)
NM_000094.4(COL7A1):c.3064G>A (p.Val1022Ile)
NM_000094.4(COL7A1):c.3086C>T (p.Thr1029Met)
NM_000094.4(COL7A1):c.3411C>T (p.Ala1137=)
NM_000094.4(COL7A1):c.3724-6C>T
NM_000094.4(COL7A1):c.3771G>A (p.Gly1257=)
NM_000094.4(COL7A1):c.3837G>A (p.Arg1279=)
NM_000094.4(COL7A1):c.3917G>A (p.Arg1306His)
NM_000094.4(COL7A1):c.3939C>T (p.Ala1313=)
NM_000094.4(COL7A1):c.4012-9C>T
NM_000094.4(COL7A1):c.4024C>T (p.Pro1342Ser)
NM_000094.4(COL7A1):c.4069G>A (p.Gly1357Arg)
NM_000094.4(COL7A1):c.4287C>T rs749814590
NM_000094.4(COL7A1):c.447C>T (p.Asp149=)
NM_000094.4(COL7A1):c.4636-9T>C rs760840151
NM_000094.4(COL7A1):c.4684G>A (p.Ala1562Thr)
NM_000094.4(COL7A1):c.5425-6_5425-5delTT rs762085901
NM_000094.4(COL7A1):c.5459C>G rs143037856
NM_000094.4(COL7A1):c.5559C>T (p.Asp1853=)
NM_000094.4(COL7A1):c.5661G>C (p.Gly1887=)
NM_000094.4(COL7A1):c.5701-10C>T
NM_000094.4(COL7A1):c.5736+9G>A rs777097228
NM_000094.4(COL7A1):c.5877C>T (p.Ile1959=)
NM_000094.4(COL7A1):c.6075C>T (p.Gly2025=)
NM_000094.4(COL7A1):c.6270T>G (p.Pro2090=)
NM_000094.4(COL7A1):c.6398T>C (p.Val2133Ala)
NM_000094.4(COL7A1):c.6447C>T (p.Asp2149=)
NM_000094.4(COL7A1):c.6596C>T (p.Pro2199Leu)
NM_000094.4(COL7A1):c.7124T>A (p.Val2375Asp)
NM_000094.4(COL7A1):c.7215C>T (p.Phe2405=)
NM_000094.4(COL7A1):c.7417G>A rs199819125
NM_000094.4(COL7A1):c.831G>A (p.Pro277=)
NM_000094.4(COL7A1):c.8505C>T (p.Arg2835=)
NM_000094.4(COL7A1):c.8539C>G (p.Pro2847Ala)
NM_000094.4(COL7A1):c.8539C>T (p.Pro2847Ser)
NM_000094.4(COL7A1):c.853G>A (p.Val285Ile)

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.