ClinVar Miner

Variants in gene COL4A6 with conflicting interpretations

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
388 77 0 17 28 0 1 43

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.

likely pathogenic uncertain significance likely benign benign
likely pathogenic 0 0 1 0
uncertain significance 0 0 28 3
likely benign 1 28 0 17
benign 0 3 17 0

All variants with conflicting interpretations #

Total variants: 43
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_033641.4(COL4A6):c.3760G>T (p.Ala1254Ser) rs145388022 0.00827
NM_033641.4(COL4A6):c.4070-17C>T rs141656095 0.00646
NM_033641.4(COL4A6):c.2371G>A (p.Gly791Ser) rs143895379 0.00169
NM_033641.4(COL4A6):c.2409G>A (p.Gly803=) rs139372880 0.00149
NM_033641.4(COL4A6):c.3537G>A (p.Pro1179=) rs144803723 0.00149
NM_033641.4(COL4A6):c.2653G>T (p.Val885Phe) rs112034997 0.00129
NM_033641.4(COL4A6):c.1886G>A (p.Arg629His) rs148929548 0.00100
NM_033641.4(COL4A6):c.2039G>A (p.Arg680Gln) rs146510405 0.00091
NM_033641.4(COL4A6):c.3138+17C>T rs369016527 0.00090
NM_033641.4(COL4A6):c.1676G>A (p.Arg559Gln) rs142508831 0.00077
NM_033641.4(COL4A6):c.1533A>G (p.Lys511=) rs139333183 0.00046
NM_033641.4(COL4A6):c.1556C>T (p.Ser519Phe) rs191837837 0.00041
NM_033641.4(COL4A6):c.2643C>A (p.Gly881=) rs755421435 0.00033
NM_033641.4(COL4A6):c.726A>C (p.Pro242=) rs149989161 0.00029
NM_033641.4(COL4A6):c.3871G>A (p.Gly1291Arg) rs201920507 0.00027
NM_033641.4(COL4A6):c.2367G>T (p.Lys789Asn) rs148636080 0.00025
NM_033641.4(COL4A6):c.3886C>T (p.Pro1296Ser) rs138267158 0.00023
NM_033641.4(COL4A6):c.3455T>C (p.Ile1152Thr) rs201355021 0.00022
NM_033641.4(COL4A6):c.2806C>T (p.Arg936Cys) rs774641536 0.00021
NM_033641.4(COL4A6):c.1613C>T (p.Ser538Leu) rs775923727 0.00013
NM_033641.4(COL4A6):c.738G>C (p.Glu246Asp) rs151224348 0.00010
NM_033641.4(COL4A6):c.623C>G (p.Pro208Arg) rs2295919 0.00008
NM_033641.4(COL4A6):c.1648A>G (p.Ser550Gly) rs146828247 0.00004
NM_033641.4(COL4A6):c.4073C>T (p.Ser1358Phe) rs202146097 0.00003
NM_033641.4(COL4A6):c.5071T>G (p.Ter1691Glu) rs769211787 0.00003
NM_033641.4(COL4A6):c.2936A>G (p.Asn979Ser) rs756303853 0.00002
NM_033641.4(COL4A6):c.4642G>A (p.Ala1548Thr) rs766360534 0.00002
NM_033641.4(COL4A6):c.1987G>A (p.Gly663Ser) rs139988853 0.00001
NM_033641.4(COL4A6):c.2164C>T (p.Pro722Ser) rs748867663 0.00001
NM_033641.4(COL4A6):c.604T>C (p.Leu202=) rs754963967 0.00001
NM_033641.4(COL4A6):c.1255A>G (p.Ile419Val)
NM_033641.4(COL4A6):c.1379G>T (p.Arg460Leu) rs34740537
NM_033641.4(COL4A6):c.1384G>A (p.Glu462Lys)
NM_033641.4(COL4A6):c.2132-6G>A rs201589060
NM_033641.4(COL4A6):c.2132-6G>T rs201589060
NM_033641.4(COL4A6):c.2230G>A (p.Gly744Ser)
NM_033641.4(COL4A6):c.2685G>T (p.Lys895Asn) rs150454971
NM_033641.4(COL4A6):c.3823G>C (p.Ala1275Pro) rs113329155
NM_033641.4(COL4A6):c.3919G>C (p.Asp1307His)
NM_033641.4(COL4A6):c.4239C>T (p.Ile1413=)
NM_033641.4(COL4A6):c.953A>G (p.Lys318Arg)

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