ClinVar Miner

Variants in gene NPHP1 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
106 28 0 12 10 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 likely pathogenic uncertain significance likely benign benign association
uncertain significance 0 0 0 9 2 0
likely benign 0 0 9 0 11 0
benign 1 1 3 12 0 1

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_000272.3(NPHP1):c.625-3dup rs200118387
NM_000272.4(NPHP1):c.1121C>T (p.Thr374Ile) rs140469160
NM_000272.4(NPHP1):c.115C>A (p.Pro39Thr) rs33958626
NM_000272.4(NPHP1):c.133A>C (p.Ile45Leu) rs145479679
NM_000272.4(NPHP1):c.1437+9G>A rs13414551
NM_000272.4(NPHP1):c.1438-4C>T rs151204566
NM_000272.4(NPHP1):c.14G>T (p.Arg5Leu) rs190983114
NM_000272.4(NPHP1):c.1637G>A (p.Arg546Lys) rs149887461
NM_000272.4(NPHP1):c.1698-10del rs779032904
NM_000272.4(NPHP1):c.2081A>G (p.Gln694Arg) rs186950965
NM_000272.4(NPHP1):c.2118G>A (p.Leu706=) rs144850331
NM_000272.4(NPHP1):c.232T>C (p.Tyr78His) rs140446520
NM_000272.4(NPHP1):c.654G>A (p.Glu218=) rs11675767
NM_000272.4(NPHP1):c.689C>T (p.Ala230Val) rs113450177
NM_000272.4(NPHP1):c.810C>T (p.Cys270=) rs73954628
NM_000272.4(NPHP1):c.829C>A (p.Arg277=) rs367600757
NM_000272.4(NPHP1):c.830G>A (p.Arg277Gln) rs143174377
NM_000272.4(NPHP1):c.940-17G>A rs146343637
Single allele

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