ClinVar Miner

Variants in gene NLRP12 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
1017 97 0 23 35 1 6 59

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 risk factor
pathogenic 0 0 5 1 0 0
likely pathogenic 0 0 1 0 0 0
uncertain significance 5 1 0 26 12 0
likely benign 1 0 26 0 23 0
benign 0 0 12 23 0 1
risk factor 0 0 0 0 1 0

All variants with conflicting interpretations #

Total variants: 59
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_144687.4(NLRP12):c.1206C>G (p.Phe402Leu) rs34971363 0.05162
NM_144687.4(NLRP12):c.3046C>T (p.Arg1016Ter) rs35064500 0.00470
NM_144687.4(NLRP12):c.910C>T (p.His304Tyr) rs141245482 0.00392
NM_144687.4(NLRP12):c.1437G>A (p.Gln479=) rs77667763 0.00294
NM_144687.4(NLRP12):c.2141A>G (p.Asn714Ser) rs150848917 0.00278
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 0.00161
NM_144687.4(NLRP12):c.1731G>A (p.Lys577=) rs73608454 0.00126
NM_144687.4(NLRP12):c.2579C>G (p.Thr860Ser) rs150671525 0.00069
NM_144687.4(NLRP12):c.2309A>C (p.Lys770Thr) rs138493915 0.00056
NM_144687.4(NLRP12):c.850C>T (p.Arg284Ter) rs104895564 0.00044
NM_144687.4(NLRP12):c.2927+11G>A rs376043494 0.00041
NM_144687.4(NLRP12):c.298C>T (p.Pro100Ser) rs200813801 0.00041
NM_144687.4(NLRP12):c.291T>C (p.Asp97=) rs201046901 0.00027
NM_144687.4(NLRP12):c.779C>T (p.Thr260Met) rs150280940 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.2600G>A (p.Arg867His) rs140731275 0.00013
NM_144687.4(NLRP12):c.2756G>A (p.Arg919Gln) rs201596732 0.00012
NM_144687.4(NLRP12):c.2761G>C (p.Gly921Arg) rs199980950 0.00011
NM_144687.4(NLRP12):c.3000G>C (p.Leu1000Phe) rs201437704 0.00011
NM_144687.4(NLRP12):c.236G>A (p.Arg79Gln) rs144936138 0.00010
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.2831G>A (p.Arg944Gln) rs200742741 0.00009
NM_144687.4(NLRP12):c.2183G>A (p.Arg728Gln) rs373285006 0.00006
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.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.2499C>A (p.Asp833Glu) rs139956424 0.00002
NM_144687.4(NLRP12):c.2574A>G (p.Leu858=) rs750552324 0.00002
NM_144687.4(NLRP12):c.538G>A (p.Gly180Ser) rs563974183 0.00002
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.541C>T (p.Arg181Trp) rs758607519 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.1952C>A (p.Ser651Ter) rs781361326
NM_144687.4(NLRP12):c.2046A>G (p.Ala682=) rs886054608
NM_144687.4(NLRP12):c.2072+2dup rs104895565
NM_144687.4(NLRP12):c.2185G>A (p.Gly729Arg) rs139938997
NM_144687.4(NLRP12):c.2206G>A (p.Gly736Arg) rs554602951
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.2927+4_2927+5dup rs763190690
NM_144687.4(NLRP12):c.3088C>G (p.Arg1030Gly) rs201619538
NM_144687.4(NLRP12):c.3152G>C (p.Arg1051Pro) rs777108086

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