ClinVar Miner

Variants in gene NHS 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
149 12 0 16 4 1 1 19

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 uncertain significance likely benign benign drug response protective other
likely pathogenic 1 1 1 1 1 1 1
uncertain significance 0 0 2 3 0 0 0
likely benign 0 2 0 15 0 0 0
benign 0 3 15 0 0 0 0

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_001291867.2(NHS):c.1714C>T (p.Pro572Ser) rs150688899
NM_001291867.2(NHS):c.207GCC[3] (p.Pro73del) rs10590816
NM_001291867.2(NHS):c.211C>T (p.Pro71Ser) rs398124605
NM_001291867.2(NHS):c.2330T>C (p.Phe777Ser) rs143081492
NM_001291867.2(NHS):c.2593G>A (p.Ala865Thr) rs149609550
NM_001291867.2(NHS):c.302_337dup (p.Glu101_Ala112dup) rs398124607
NM_001291867.2(NHS):c.3201T>C (p.Ser1067=) rs56908561
NM_001291867.2(NHS):c.3204A>G (p.Leu1068=) rs56691712
NM_001291867.2(NHS):c.3374C>T (p.Ser1125Leu) rs145005596
NM_001291867.2(NHS):c.3785C>T (p.Thr1262Met) rs141013518
NM_001291867.2(NHS):c.3929G>T (p.Gly1310Val) rs41304731
NM_001291867.2(NHS):c.4018T>C (p.Phe1340Leu) rs3747295
NM_001291867.2(NHS):c.4043G>A (p.Arg1348His) rs141525588
NM_001291867.2(NHS):c.4051G>A (p.Asp1351Asn) rs148418212
NM_001291867.2(NHS):c.513C>T (p.Leu171=) rs398124610
NM_001291867.2(NHS):c.566-10dup rs5901624
NM_001291867.2(NHS):c.618G>A (p.Pro206=) rs200952266
NM_001291867.2(NHS):c.666C>T (p.Cys222=) rs138104885
Single allele rs1556038653

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