ClinVar Miner

Variants in gene COL7A1 with conflicting interpretations

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Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
1110 118 0 14 40 0 9 62

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 4 6 0 1
likely pathogenic 4 0 2 0 0
uncertain significance 6 2 0 36 4
likely benign 0 0 36 0 10
benign 1 0 4 10 0

All variants with conflicting interpretations #

Total variants: 62
Download table as spreadsheet
NM_000094.3(COL7A1):c.1613G>A (p.Arg538His) rs138791004
NM_000094.3(COL7A1):c.2242G>A (p.Glu748Lys) rs148411473
NM_000094.3(COL7A1):c.2392G>A (p.Gly798Arg) rs202237834
NM_000094.3(COL7A1):c.3942dup (p.Asn1315fs) rs747912732
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.4719A>G (p.Glu1573=) rs558405095
NM_000094.3(COL7A1):c.4782+9A>T rs369635501
NM_000094.3(COL7A1):c.5154+5T>C rs2854400
NM_000094.3(COL7A1):c.5173G>A (p.Gly1725Arg) rs772195825
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.5532+1G>A rs767182886
NM_000094.3(COL7A1):c.5819C>T (p.Pro1940Leu) rs149267939
NM_000094.3(COL7A1):c.5910C>T (p.Phe1970=) rs141290741
NM_000094.3(COL7A1):c.59G>C (p.Arg20Pro) rs755340663
NM_000094.3(COL7A1):c.6005G>A (p.Arg2002His) rs768326843
NM_000094.3(COL7A1):c.6017G>A (p.Gly2006Asp) rs121912842
NM_000094.3(COL7A1):c.6262G>A (p.Gly2088Arg) rs573432153
NM_000094.3(COL7A1):c.630C>T (p.Leu210=) rs117857033
NM_000094.3(COL7A1):c.6500C>T (p.Pro2167Leu) rs200473808
NM_000094.3(COL7A1):c.6696C>A (p.Pro2232=) rs61729223
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.8504G>A (p.Arg2835His) rs139014122
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.1907G>T rs116005007
NM_000094.4(COL7A1):c.2100A>C rs756201098
NM_000094.4(COL7A1):c.2202G>A (p.Glu734=)
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.3411C>T (p.Ala1137=)
NM_000094.4(COL7A1):c.3771G>A (p.Gly1257=)
NM_000094.4(COL7A1):c.3837G>A (p.Arg1279=)
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.4612C>T (p.Arg1538Cys) rs149711883
NM_000094.4(COL7A1):c.4636-9T>C rs760840151
NM_000094.4(COL7A1):c.4684G>A (p.Ala1562Thr)
NM_000094.4(COL7A1):c.5096C>T rs121912845
NM_000094.4(COL7A1):c.5425-6_5425-5delTT rs762085901
NM_000094.4(COL7A1):c.5459C>G rs143037856
NM_000094.4(COL7A1):c.5736+9G>A rs777097228
NM_000094.4(COL7A1):c.5820G>A rs200972872
NM_000094.4(COL7A1):c.6075C>T (p.Gly2025=)
NM_000094.4(COL7A1):c.6473G>A (p.Arg2158His)
NM_000094.4(COL7A1):c.7068+5G>A rs779875751
NM_000094.4(COL7A1):c.7124T>A (p.Val2375Asp)
NM_000094.4(COL7A1):c.7191C>T rs34360255
NM_000094.4(COL7A1):c.7417G>A rs199819125
NM_000094.4(COL7A1):c.7864C>T rs139318843
NM_000094.4(COL7A1):c.8206G>A rs779942952
NM_000094.4(COL7A1):c.8539C>T (p.Pro2847Ser)
NM_000094.4(COL7A1):c.853G>A (p.Val285Ile)

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