ClinVar Miner

Variants in gene combination COL4A3, MFF-DT 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
660 58 0 38 14 0 17 61

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 16 4 0 0
likely pathogenic 16 0 15 1 1
uncertain significance 4 15 0 8 7
likely benign 0 1 8 0 22
benign 0 1 7 22 0

All variants with conflicting interpretations #

Total variants: 61
Download table as spreadsheet
HGVS dbSNP
NM_000091.4(COL4A3):c.1096G>A (p.Gly366Arg) rs539765620
NM_000091.4(COL4A3):c.1184G>A (p.Gly395Glu) rs1131691738
NM_000091.4(COL4A3):c.1201G>A (p.Gly401Arg) rs1559878824
NM_000091.4(COL4A3):c.1216C>T (p.Arg406Ter) rs371334239
NM_000091.4(COL4A3):c.1354G>A (p.Gly452Arg) rs772958162
NM_000091.4(COL4A3):c.1372G>C (p.Gly458Arg) rs757341933
NM_000091.4(COL4A3):c.1398T>C (p.Asp466=) rs145833114
NM_000091.4(COL4A3):c.1855G>A (p.Gly619Arg) rs773515249
NM_000091.4(COL4A3):c.190G>C (p.Gly64Arg) rs917643323
NM_000091.4(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952
NM_000091.4(COL4A3):c.222G>T (p.Pro74=) rs187950806
NM_000091.4(COL4A3):c.2417dup (p.Gly807fs) rs1440033157
NM_000091.4(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181
NM_000091.4(COL4A3):c.2501A>G (p.Lys834Arg) rs56226424
NM_000091.4(COL4A3):c.2593G>A (p.Gly865Ser) rs1559897190
NM_000091.4(COL4A3):c.2657-1G>T rs373324875
NM_000091.4(COL4A3):c.2699T>C (p.Ile900Thr) rs201665434
NM_000091.4(COL4A3):c.2810G>A (p.Gly937Glu) rs1559899600
NM_000091.4(COL4A3):c.2848G>A (p.Val950Ile) rs200044988
NM_000091.4(COL4A3):c.2886C>T (p.Phe962=) rs77846212
NM_000091.4(COL4A3):c.2990G>A (p.Gly997Glu) rs1553762113
NM_000091.4(COL4A3):c.3031C>T (p.Arg1011Cys) rs73996408
NM_000091.4(COL4A3):c.3270A>C (p.Pro1090=) rs201989155
NM_000091.4(COL4A3):c.3325C>T (p.Pro1109Ser) rs55816283
NM_000091.4(COL4A3):c.346C>A (p.Pro116Thr) rs115324397
NM_000091.4(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000091.4(COL4A3):c.3566-10T>C rs114719458
NM_000091.4(COL4A3):c.3566-9T>C rs147886850
NM_000091.4(COL4A3):c.3627G>A (p.Met1209Ile) rs200562865
NM_000091.4(COL4A3):c.3643C>T (p.Arg1215Ter) rs368434069
NM_000091.4(COL4A3):c.3825C>T (p.His1275=) rs143380907
NM_000091.4(COL4A3):c.391G>T (p.Glu131Ter) rs1346138010
NM_000091.4(COL4A3):c.3939G>A (p.Gly1313=) rs141552752
NM_000091.4(COL4A3):c.4295G>A (p.Arg1432His) rs200509072
NM_000091.4(COL4A3):c.4380T>C (p.Cys1460=) rs114430490
NM_000091.4(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125
NM_000091.4(COL4A3):c.4445C>T (p.Ala1482Val) rs199755408
NM_000091.4(COL4A3):c.4486C>T (p.Arg1496Ter) rs769863513
NM_000091.4(COL4A3):c.4494C>G (p.Thr1498=) rs200454769
NM_000091.4(COL4A3):c.4571C>G (p.Ser1524Ter) rs121912825
NM_000091.4(COL4A3):c.4665G>A (p.Ala1555=) rs200858199
NM_000091.4(COL4A3):c.4707A>T (p.Pro1569=) rs113401495
NM_000091.4(COL4A3):c.4793T>G (p.Leu1598Arg) rs752452590
NM_000091.4(COL4A3):c.4825C>A (p.Arg1609=) rs756231749
NM_000091.4(COL4A3):c.4893C>T (p.Phe1631=) rs183218622
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000091.4(COL4A3):c.688-8G>T rs748843785
NM_000091.4(COL4A3):c.765G>A (p.Thr255=) rs869025328
NM_000091.4(COL4A3):c.898G>A (p.Gly300Arg) rs772708743
NM_000091.4(COL4A3):c.997G>A (p.Gly333Arg) rs761819520
NM_000091.5(COL4A3):c.1352A>G (p.His451Arg) rs11677877
NM_000091.5(COL4A3):c.1886C>T rs139361545
NM_000091.5(COL4A3):c.2371C>T rs1060499654
NM_000091.5(COL4A3):c.2475G>C (p.Leu825Phe)
NM_000091.5(COL4A3):c.2715C>T (p.Pro905=) rs75519005
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=) rs147085074
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.3476G>A (p.Arg1159His) rs145948549
NM_000091.5(COL4A3):c.3829G>A rs190598500
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg) rs77964815
NM_000091.5(COL4A3):c.4826G>A (p.Arg1609Gln) rs1380878336

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