ClinVar Miner

Variants in gene RP1 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
132 13 1 15 2 1 5 18

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 association
pathogenic 0 3 0 1 1 0
likely pathogenic 4 0 4 2 2 1
uncertain significance 0 3 0 2 1 0
likely benign 1 1 2 1 11 0
benign 1 1 1 11 0 0

All variants with conflicting interpretations #

Total variants: 18
Download table as spreadsheet
HGVS dbSNP
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile) rs77775126
NM_006269.2(RP1):c.1451C>A (p.Ser484Ter) rs1563329888
NM_006269.2(RP1):c.2255C>T (p.Thr752Met) rs28399531
NM_006269.2(RP1):c.2615G>A (p.Arg872His) rs444772
NM_006269.2(RP1):c.2700dup (p.Pro901fs) rs797044735
NM_006269.2(RP1):c.2749C>T (p.Gln917Ter) rs878853326
NM_006269.2(RP1):c.2953A>T (p.Asn985Tyr) rs2293869
NM_006269.2(RP1):c.2991T>C (p.Asn997=) rs112667487
NM_006269.2(RP1):c.3699C>T (p.Ser1233=) rs114557304
NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr) rs446227
NM_006269.2(RP1):c.5071T>C (p.Ser1691Pro) rs414352
NM_006269.2(RP1):c.515T>G (p.Leu172Arg) rs180729424
NM_006269.2(RP1):c.5175A>G (p.Gln1725=) rs441800
NM_006269.2(RP1):c.5624G>C (p.Gly1875Ala) rs150728667
NM_006269.2(RP1):c.5797C>T (p.Arg1933Ter) rs118031911
NM_006269.2(RP1):c.6098G>A (p.Cys2033Tyr) rs61739567
NM_006269.2(RP1):c.616-6T>C rs186571865
Single allele

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