ClinVar Miner

Variants in gene combination NPHP3, NPHP3-ACAD11 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
175 76 0 27 18 0 2 41

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 3 0 0 0
likely pathogenic 3 0 2 0 0
uncertain significance 0 2 0 17 7
likely benign 0 0 17 0 24
benign 0 0 7 24 0

All variants with conflicting interpretations #

Total variants: 41
Download table as spreadsheet
HGVS dbSNP
NM_153240.4(NPHP3):c.105G>A (p.Lys35=) rs377060857
NM_153240.4(NPHP3):c.1157A>G (p.Asn386Ser) rs142021049
NM_153240.4(NPHP3):c.1189C>T (p.Arg397Cys) rs141477666
NM_153240.4(NPHP3):c.1525-5delT rs762115717
NM_153240.4(NPHP3):c.154G>A (p.Ala52Thr) rs145643112
NM_153240.4(NPHP3):c.1817G>A (p.Trp606Ter) rs182135982
NM_153240.4(NPHP3):c.1887+6G>A rs79113972
NM_153240.4(NPHP3):c.189G>C (p.Gly63=) rs750280281
NM_153240.4(NPHP3):c.1986G>A (p.Arg662=) rs77533254
NM_153240.4(NPHP3):c.2089-9C>T rs141397228
NM_153240.4(NPHP3):c.2154C>T (p.Phe718=) rs558637226
NM_153240.4(NPHP3):c.255G>A (p.Glu85=) rs146839563
NM_153240.4(NPHP3):c.2571-7T>C rs62292468
NM_153240.4(NPHP3):c.2610G>A (p.Pro870=) rs16839515
NM_153240.4(NPHP3):c.2688T>C (p.Tyr896=) rs150489788
NM_153240.4(NPHP3):c.2694-2_2694-1delAG rs751527253
NM_153240.4(NPHP3):c.2769C>T (p.Phe923=) rs116174472
NM_153240.4(NPHP3):c.2883+13G>C rs112375565
NM_153240.4(NPHP3):c.306C>T (p.Arg102=) rs762134618
NM_153240.4(NPHP3):c.3093A>G (p.Glu1031=) rs112300370
NM_153240.4(NPHP3):c.3189A>G (p.Lys1063=) rs112386774
NM_153240.4(NPHP3):c.3500G>A (p.Arg1167His) rs111727307
NM_153240.4(NPHP3):c.3550G>A (p.Ala1184Thr) rs34391943
NM_153240.4(NPHP3):c.3570+9G>T rs112749193
NM_153240.4(NPHP3):c.3663C>T (p.Ala1221=) rs112144165
NM_153240.4(NPHP3):c.3697-7delT rs564013823
NM_153240.4(NPHP3):c.3717G>A (p.Leu1239=) rs146759786
NM_153240.4(NPHP3):c.3913C>T (p.Arg1305Cys) rs35485382
NM_153240.4(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802
NM_153240.4(NPHP3):c.3971T>C (p.Phe1324Ser) rs113364886
NM_153240.4(NPHP3):c.408G>A (p.Thr136=) rs141410951
NM_153240.4(NPHP3):c.449C>T (p.Ala150Val) rs142663818
NM_153240.4(NPHP3):c.450G>A (p.Ala150=) rs78527322
NM_153240.4(NPHP3):c.520-10C>G rs200144727
NM_153240.4(NPHP3):c.57G>C (p.Thr19=) rs192633696
NM_153240.4(NPHP3):c.621A>G (p.Val207=) rs139693694
NM_153240.4(NPHP3):c.670+13C>T rs202228115
NM_153240.4(NPHP3):c.864T>A (p.Thr288=) rs147932449
NM_153240.5(NPHP3):c.406del (p.Thr136Argfs)
NM_153240.5(NPHP3):c.974T>C (p.Leu325Pro)
NM_153240.5(NPHP3):c.985T>C (p.Cys329Arg)

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