ClinVar Miner

Variants in gene MC1R 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 Variants with at least 2 submissions 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 kind of conflict
120 12 0 19 8 6 10 30

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 affects association risk factor
pathogenic 0 1 2 5 3 2 3 2
likely pathogenic 1 0 2 4 4 0 1 1
uncertain significance 2 2 0 8 2 0 0 0
likely benign 5 4 8 0 19 2 3 3
benign 3 4 2 19 0 1 4 2
affects 2 0 0 2 1 0 2 2
association 3 1 0 3 4 2 0 2
risk factor 2 1 0 3 2 2 2 0

All variants with conflicting interpretations #

Total variants: 30
Download table as spreadsheet
HGVS dbSNP
NM_002386.3(MC1R):c.178G>T (p.Val60Leu) rs1805005
NM_002386.3(MC1R):c.200G>A (p.Arg67Gln) rs34090186
NM_002386.3(MC1R):c.247T>C (p.Ser83Pro) rs34474212
NM_002386.3(MC1R):c.252C>A (p.Asp84Glu) rs1805006
NM_002386.3(MC1R):c.265G>C (p.Gly89Arg) rs34540312
NM_002386.3(MC1R):c.274G>A (p.Val92Met) rs2228479
NM_002386.3(MC1R):c.318G>A (p.Leu106=) rs3212364
NM_002386.3(MC1R):c.325C>T (p.Arg109Trp) rs546618600
NM_002386.3(MC1R):c.359T>C (p.Ile120Thr) rs33932559
NM_002386.3(MC1R):c.364G>A (p.Val122Met) rs201192930
NM_002386.3(MC1R):c.399C>T (p.Cys133=) rs201429598
NM_002386.3(MC1R):c.425G>A (p.Arg142His) rs11547464
NM_002386.3(MC1R):c.451C>T (p.Arg151Cys) rs1805007
NM_002386.3(MC1R):c.453C>G (p.Arg151=) rs201827012
NM_002386.3(MC1R):c.456C>A (p.Tyr152Ter) rs201326893
NM_002386.3(MC1R):c.464T>C (p.Ile155Thr) rs1110400
NM_002386.3(MC1R):c.466G>C (p.Val156Leu) rs3212365
NM_002386.3(MC1R):c.478C>T (p.Arg160Trp) rs1805008
NM_002386.3(MC1R):c.515G>T (p.Ser172Ile) rs376670171
NM_002386.3(MC1R):c.555C>T (p.His185=) rs199920775
NM_002386.3(MC1R):c.556G>A (p.Val186Met) rs773260532
NM_002386.3(MC1R):c.586T>C (p.Phe196Leu) rs3212366
NM_002386.3(MC1R):c.637C>T (p.Arg213Trp) rs200000734
NM_002386.3(MC1R):c.652G>A (p.Ala218Thr) rs200965363
NM_002386.3(MC1R):c.67C>T (p.Gln23Ter) rs201533137
NM_002386.3(MC1R):c.699G>A (p.Gln233=) rs146544450
NM_002386.3(MC1R):c.792C>T (p.Ile264=) rs181269865
NM_002386.3(MC1R):c.880G>C (p.Asp294His) rs1805009
NM_002386.3(MC1R):c.900C>T (p.Phe300=) rs3212367
NM_002386.3(MC1R):c.948C>T (p.Ser316=) rs151318945

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.