ClinVar Miner

Variants in gene NEK1 with conflicting interpretations

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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
658 38 0 24 31 0 2 53

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 10 0 0 0
likely pathogenic 10 0 2 1 0
uncertain significance 0 2 0 29 4
likely benign 0 1 29 0 14
benign 0 0 4 14 0

All variants with conflicting interpretations #

Total variants: 53
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001199397.3(NEK1):c.1388C>T (p.Ala463Val) rs34540355 0.03694
NM_001199397.3(NEK1):c.3624T>C (p.Asp1208=) rs55740606 0.00560
NM_001199397.3(NEK1):c.2731C>G (p.Gln911Glu) rs6828134 0.00535
NM_001199397.3(NEK1):c.2235T>G (p.Asn745Lys) rs34324114 0.00417
NM_001199397.3(NEK1):c.3285C>T (p.Pro1095=) rs140408058 0.00301
NM_001199397.3(NEK1):c.1021G>A (p.Ala341Thr) rs189186475 0.00227
NM_001199397.3(NEK1):c.975A>G (p.Gly325=) rs150904906 0.00218
NM_001199397.3(NEK1):c.782G>A (p.Arg261His) rs200161705 0.00216
NM_001199397.3(NEK1):c.1581T>C (p.Ala527=) rs184804243 0.00188
NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=) rs56077602 0.00169
NM_001199397.3(NEK1):c.924T>G (p.Ile308Met) rs10034957 0.00151
NM_001199397.3(NEK1):c.3213C>T (p.Asn1071=) rs184324310 0.00098
NM_001199397.3(NEK1):c.2137G>A (p.Val713Met) rs199827465 0.00063
NM_001199397.3(NEK1):c.686A>G (p.Tyr229Cys) rs61737748 0.00062
NM_001199397.3(NEK1):c.3193A>G (p.Thr1065Ala) rs371084271 0.00044
NM_001199397.3(NEK1):c.3567C>T (p.Asn1189=) rs200710438 0.00038
NM_001199397.3(NEK1):c.3583+8A>C rs192372022 0.00026
NM_001199397.3(NEK1):c.1617G>A (p.Gln539=) rs146569517 0.00024
NM_001199397.3(NEK1):c.594A>G (p.Thr198=) rs373252814 0.00014
NM_001199397.3(NEK1):c.859C>G (p.Pro287Ala) rs35222922 0.00012
NM_001199397.3(NEK1):c.912T>C (p.Pro304=) rs139433990 0.00011
NM_001199397.3(NEK1):c.642G>A (p.Lys214=) rs369725706 0.00010
NM_001199397.3(NEK1):c.2421C>T (p.Phe807=) rs56346829 0.00009
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197 0.00009
NM_001199397.3(NEK1):c.1226G>A (p.Trp409Ter) rs985064686 0.00004
NM_001199397.3(NEK1):c.2587+14G>T rs368032168 0.00004
NM_001199397.3(NEK1):c.3135T>C (p.Ser1045=) rs370713361 0.00004
NM_001199397.3(NEK1):c.3622G>A (p.Asp1208Asn) rs35503975 0.00004
NM_001199397.3(NEK1):c.3715-6G>C rs771507979 0.00004
NM_001199397.3(NEK1):c.1063A>G (p.Arg355Gly) rs35763578 0.00003
NM_001199397.3(NEK1):c.1500T>C (p.Ala500=) rs776664093 0.00003
NM_001199397.3(NEK1):c.2136C>T (p.Gly712=) rs760404694 0.00003
NM_001199397.3(NEK1):c.214+1G>A rs1049502301 0.00002
NM_001199397.3(NEK1):c.1122A>C (p.Glu374Asp) rs992324423 0.00001
NM_001199397.3(NEK1):c.1618C>T (p.Arg540Ter) rs758677637 0.00001
NM_001199397.3(NEK1):c.2093T>C (p.Met698Thr) rs577165880 0.00001
NM_001199397.3(NEK1):c.2726C>G (p.Ser909Cys) rs543224510 0.00001
NM_001199397.3(NEK1):c.3075C>T (p.Asn1025=) rs886059227 0.00001
NM_001199397.3(NEK1):c.3405A>G (p.Gln1135=) rs774338352 0.00001
NM_001199397.3(NEK1):c.418G>A (p.Gly140Arg) rs1301705612 0.00001
NM_001199397.3(NEK1):c.1081-8dup rs398124255
NM_001199397.3(NEK1):c.1334A>G (p.His445Arg) rs574204412
NM_001199397.3(NEK1):c.1769_1770del (p.Arg590fs) rs1554053289
NM_001199397.3(NEK1):c.1868del (p.Ser623fs) rs1362848762
NM_001199397.3(NEK1):c.2161C>T (p.Arg721Trp) rs201726561
NM_001199397.3(NEK1):c.2814_2817del (p.Asn938fs) rs752878896
NM_001199397.3(NEK1):c.2886-1G>A rs773496891
NM_001199397.3(NEK1):c.2974+11T>C rs886059229
NM_001199397.3(NEK1):c.3141G>A (p.Ser1047=) rs190807750
NM_001199397.3(NEK1):c.3289G>A (p.Val1097Ile) rs374890006
NM_001199397.3(NEK1):c.3727G>T (p.Asp1243Tyr)
NM_001199397.3(NEK1):c.599_602del (p.Lys200fs) rs1554075284
NM_001199397.3(NEK1):c.894C>G (p.Asn298Lys) rs745526568

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