ClinVar Miner

Variants in gene RIN2 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
410 82 0 26 11 0 1 36

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 1 1 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 1 0 0 10 3
likely benign 0 0 10 0 25
benign 0 0 3 25 0

All variants with conflicting interpretations #

Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018993.4(RIN2):c.84C>T (p.Ile28=) rs181853315 0.00670
NM_018993.4(RIN2):c.965G>A (p.Ser322Asn) rs199693970 0.00538
NM_018993.4(RIN2):c.1425C>A (p.Pro475=) rs188147644 0.00315
NM_018993.4(RIN2):c.2571G>A (p.Lys857=) rs149821491 0.00295
NM_018993.4(RIN2):c.1141C>T (p.Arg381Trp) rs199954296 0.00249
NM_018993.4(RIN2):c.1338G>C (p.Arg446=) rs367993633 0.00243
NM_018993.4(RIN2):c.1917G>A (p.Leu639=) rs368610064 0.00239
NM_018993.4(RIN2):c.57+18T>C rs140679811 0.00235
NM_018993.4(RIN2):c.463+12T>C rs184313079 0.00228
NM_018993.4(RIN2):c.2418C>A (p.Thr806=) rs114329888 0.00218
NM_018993.4(RIN2):c.365A>G (p.His122Arg) rs201529870 0.00200
NM_018993.4(RIN2):c.1851C>T (p.Ala617=) rs180817901 0.00173
NM_018993.4(RIN2):c.1427C>G (p.Pro476Arg) rs35142632 0.00165
NM_018993.4(RIN2):c.2501A>T (p.Tyr834Phe) rs183141566 0.00108
NM_018993.4(RIN2):c.1004C>G (p.Pro335Arg) rs200780805 0.00098
NM_018993.4(RIN2):c.1045C>T (p.Pro349Ser) rs201486809 0.00097
NM_018993.4(RIN2):c.2220C>T (p.Ser740=) rs146810222 0.00083
NM_018993.4(RIN2):c.2627T>C (p.Ile876Thr) rs202076384 0.00077
NM_018993.4(RIN2):c.1557C>T (p.Ala519=) rs372947881 0.00076
NM_018993.4(RIN2):c.604G>A (p.Glu202Lys) rs200682836 0.00043
NM_018993.4(RIN2):c.868C>A (p.Arg290=) rs373060422 0.00025
NM_018993.4(RIN2):c.-20G>A rs375404772 0.00021
NM_018993.4(RIN2):c.1464G>A (p.Val488=) rs144752607 0.00021
NM_018993.4(RIN2):c.1158G>C (p.Pro386=) rs548499908 0.00016
NM_018993.4(RIN2):c.629-8A>C rs190569230 0.00015
NM_018993.4(RIN2):c.628+7G>A rs370585631 0.00010
NM_018993.4(RIN2):c.1239G>T (p.Pro413=) rs534193230 0.00009
NM_018993.4(RIN2):c.404G>A (p.Arg135His) rs200460217 0.00009
NM_018993.4(RIN2):c.78G>A (p.Ser26=) rs377404678 0.00009
NM_018993.4(RIN2):c.2436C>T (p.Tyr812=) rs540923982 0.00007
NM_018993.4(RIN2):c.1642G>A (p.Val548Met) rs181298473
NM_018993.4(RIN2):c.2104dup (p.Leu702fs) rs1568718508
NM_018993.4(RIN2):c.2260G>A (p.Glu754Lys) rs375974979
NM_018993.4(RIN2):c.40C>T (p.Arg14Ter)
NM_018993.4(RIN2):c.77C>T (p.Ser26Leu) rs577973228
NM_018993.4(RIN2):c.924A>C (p.Pro308=) rs1348842250

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