ClinVar Miner

Variants with conflicting interpretations studied for Familial cold autoinflammatory syndrome 2

Coded as:
Minimum review status of the submission for Familial cold autoinflammatory syndrome 2: Collection method of the submission for Familial cold autoinflammatory syndrome 2:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
1123 108 0 23 34 0 10 64

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.

All conditions
Familial cold autoinflammatory syndrome 2 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 5 1 0
likely pathogenic 1 0 5 0 0
uncertain significance 5 5 0 24 12
likely benign 1 0 24 0 22
benign 0 0 12 22 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition 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
Familial cold autoinflammatory syndrome 2 1123 108 0 23 34 0 10 64

All variants with conflicting interpretations #

Total variants: 64
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_144687.4(NLRP12):c.3046C>T (p.Arg1016Ter) rs35064500 0.00470
NM_144687.4(NLRP12):c.910C>T (p.His304Tyr) rs141245482 0.00376
NM_144687.4(NLRP12):c.1437G>A (p.Gln479=) rs77667763 0.00294
NM_144687.4(NLRP12):c.2701G>C (p.Val901Leu) rs104895568 0.00265
NM_144687.4(NLRP12):c.1299A>G (p.Ala433=) rs73608455 0.00194
NM_144687.4(NLRP12):c.819T>C (p.Pro273=) rs59749540 0.00191
NM_144687.4(NLRP12):c.2227A>C (p.Lys743Gln) rs74373537 0.00180
NM_144687.4(NLRP12):c.1063G>A (p.Glu355Lys) rs143855597 0.00147
NM_144687.4(NLRP12):c.3004G>A (p.Asp1002Asn) rs144746100 0.00131
NM_144687.4(NLRP12):c.2386del (p.His796fs) rs539741111 0.00102
NM_144687.4(NLRP12):c.2579C>G (p.Thr860Ser) rs150671525 0.00070
NM_144687.4(NLRP12):c.2309A>C (p.Lys770Thr) rs138493915 0.00053
NM_144687.4(NLRP12):c.850C>T (p.Arg284Ter) rs104895564 0.00046
NM_144687.4(NLRP12):c.2927+11G>A rs376043494 0.00039
NM_144687.4(NLRP12):c.298C>T (p.Pro100Ser) rs200813801 0.00036
NM_144687.4(NLRP12):c.779C>T (p.Thr260Met) rs150280940 0.00032
NM_144687.4(NLRP12):c.291T>C (p.Asp97=) rs201046901 0.00027
NM_144687.4(NLRP12):c.2757-8C>G rs370391218 0.00025
NM_144687.4(NLRP12):c.1022C>T (p.Thr341Ile) rs200996095 0.00019
NM_144687.4(NLRP12):c.1054C>T (p.Arg352Cys) rs199881207 0.00019
NM_144687.4(NLRP12):c.3146C>T (p.Ala1049Val) rs146786265 0.00016
NM_144687.4(NLRP12):c.2206G>A (p.Gly736Arg) rs554602951 0.00013
NM_144687.4(NLRP12):c.2600G>A (p.Arg867His) rs140731275 0.00013
NM_144687.4(NLRP12):c.2756G>A (p.Arg919Gln) rs201596732 0.00012
NM_144687.4(NLRP12):c.2960G>A (p.Cys987Tyr) rs369502542 0.00010
NM_144687.4(NLRP12):c.986G>A (p.Arg329Gln) rs144287432 0.00010
NM_144687.4(NLRP12):c.1349C>T (p.Pro450Leu) rs143640165 0.00009
NM_144687.4(NLRP12):c.2165G>A (p.Arg722Gln) rs199475868 0.00009
NM_144687.4(NLRP12):c.2575C>T (p.Arg859Trp) rs573629753 0.00009
NM_144687.4(NLRP12):c.2761G>C (p.Gly921Arg) rs199980950 0.00009
NM_144687.4(NLRP12):c.2831G>A (p.Arg944Gln) rs200742741 0.00009
NM_144687.4(NLRP12):c.2183G>A (p.Arg728Gln) rs373285006 0.00007
NM_144687.4(NLRP12):c.2785G>A (p.Ala929Thr) rs146368839 0.00006
NM_144687.4(NLRP12):c.14C>A (p.Ala5Glu) rs761545315 0.00004
NM_144687.4(NLRP12):c.289+13C>T rs776591533 0.00004
NM_144687.4(NLRP12):c.2499C>A (p.Asp833Glu) rs139956424 0.00003
NM_144687.4(NLRP12):c.3003C>T (p.Thr1001=) rs556001110 0.00003
NM_144687.4(NLRP12):c.858C>T (p.Pro286=) rs145171629 0.00003
NM_144687.4(NLRP12):c.2120C>T (p.Ala707Val) rs202169378 0.00002
NM_144687.4(NLRP12):c.2574A>G (p.Leu858=) rs750552324 0.00002
NM_144687.4(NLRP12):c.395A>G (p.Tyr132Cys) rs781619673 0.00002
NM_144687.4(NLRP12):c.541C>T (p.Arg181Trp) rs758607519 0.00002
NM_144687.4(NLRP12):c.1152G>A (p.Ala384=) rs776027340 0.00001
NM_144687.4(NLRP12):c.1952C>A (p.Ser651Ter) rs781361326 0.00001
NM_144687.4(NLRP12):c.19A>G (p.Arg7Gly) rs773831845 0.00001
NM_144687.4(NLRP12):c.2244-14C>T rs866055657 0.00001
NM_144687.4(NLRP12):c.2360dup (p.Met787fs) rs768447330 0.00001
NM_144687.4(NLRP12):c.2879T>A (p.Leu960Ter) rs745881796 0.00001
NM_144687.4(NLRP12):c.538G>A (p.Gly180Ser) rs563974183 0.00001
NM_144687.4(NLRP12):c.654G>A (p.Ala218=) rs745766441 0.00001
NM_144687.4(NLRP12):c.861G>A (p.Glu287=) rs765562062 0.00001
NM_144687.4(NLRP12):c.1223G>A (p.Trp408Ter) rs774895361
NM_144687.4(NLRP12):c.2046A>G (p.Ala682=) rs886054608
NM_144687.4(NLRP12):c.2056_2057dup (p.Leu687fs) rs1327772058
NM_144687.4(NLRP12):c.2072+1G>C rs766603266
NM_144687.4(NLRP12):c.2072+2dup rs104895565
NM_144687.4(NLRP12):c.2182C>T (p.Arg728Trp) rs764354581
NM_144687.4(NLRP12):c.2185G>A (p.Gly729Arg) rs139938997
NM_144687.4(NLRP12):c.2661_2664del (p.Arg887fs) rs2091866608
NM_144687.4(NLRP12):c.2754G>A (p.Leu918=) rs61741347
NM_144687.4(NLRP12):c.2830C>A (p.Arg944=) rs104895570
NM_144687.4(NLRP12):c.3088C>G (p.Arg1030Gly) rs201619538
NM_144687.4(NLRP12):c.3152G>C (p.Arg1051Pro) rs777108086
NM_144687.4(NLRP12):c.575del (p.Ser192fs) rs1255447565

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