ClinVar Miner

List of variants studied for Familial cold autoinflammatory syndrome 2 by Illumina Laboratory Services, Illumina

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Total variants: 104
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HGVS dbSNP gnomAD frequency
NM_144687.4(NLRP12):c.1347C>G (p.Ala449=) rs111234757 0.02160
NM_144687.4(NLRP12):c.609C>T (p.Asp203=) rs34854934 0.01168
NM_144687.4(NLRP12):c.2784C>T (p.Ala928=) rs104895569 0.01141
NM_144687.4(NLRP12):c.2576G>A (p.Arg859Gln) rs79884502 0.00917
NM_144687.4(NLRP12):c.*203T>C rs116411892 0.00877
NM_144687.4(NLRP12):c.956C>G (p.Pro319Arg) rs35401786 0.00803
NM_144687.4(NLRP12):c.424G>A (p.Asp142Asn) rs34330210 0.00799
NM_144687.4(NLRP12):c.2755C>T (p.Arg919Trp) rs61741349 0.00716
NM_144687.4(NLRP12):c.2754G>C (p.Leu918=) rs61741347 0.00692
NM_144687.4(NLRP12):c.3046C>T (p.Arg1016Ter) rs35064500 0.00470
NM_144687.4(NLRP12):c.*204C>T rs141410784 0.00436
NM_144687.4(NLRP12):c.910C>T (p.His304Tyr) rs141245482 0.00392
NM_144687.4(NLRP12):c.960G>A (p.Thr320=) rs77625808 0.00311
NM_144687.4(NLRP12):c.2701G>C (p.Val901Leu) rs104895568 0.00265
NM_144687.4(NLRP12):c.2927+14A>G rs199476247 0.00247
NM_144687.4(NLRP12):c.3024C>T (p.Asn1008=) rs140769141 0.00142
NM_144687.4(NLRP12):c.3004G>A (p.Asp1002Asn) rs144746100 0.00131
NM_144687.3(NLRP12):c.-143C>A rs190223587 0.00121
NM_144687.4(NLRP12):c.*205G>A rs564145946 0.00077
NM_144687.4(NLRP12):c.2579C>G (p.Thr860Ser) rs150671525 0.00069
NM_144687.3(NLRP12):c.-226A>G rs547032329 0.00058
NM_144687.4(NLRP12):c.2309A>C (p.Lys770Thr) rs138493915 0.00056
NM_144687.4(NLRP12):c.*118G>A rs143930342 0.00051
NM_144687.4(NLRP12):c.-107G>A rs186351375 0.00042
NM_144687.4(NLRP12):c.298C>T (p.Pro100Ser) rs200813801 0.00041
NM_144687.3(NLRP12):c.*395C>T rs886054604 0.00037
NM_144687.4(NLRP12):c.2442G>A (p.Gly814=) rs140247843 0.00036
NM_144687.4(NLRP12):c.-56G>A rs112227599 0.00035
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.*229G>A rs188195272 0.00026
NM_144687.4(NLRP12):c.2757-8C>G rs370391218 0.00025
NM_144687.4(NLRP12):c.2258G>A (p.Arg753His) rs148745997 0.00022
NM_144687.4(NLRP12):c.629C>T (p.Pro210Leu) rs377594629 0.00021
NM_144687.4(NLRP12):c.1022C>T (p.Thr341Ile) rs200996095 0.00019
NM_144687.4(NLRP12):c.3146C>T (p.Ala1049Val) rs146786265 0.00016
NM_144687.4(NLRP12):c.2600G>A (p.Arg867His) rs140731275 0.00013
NM_144687.4(NLRP12):c.2748G>A (p.Gln916=) rs368633277 0.00013
NM_144687.4(NLRP12):c.2756G>A (p.Arg919Gln) rs201596732 0.00012
NM_144687.4(NLRP12):c.*194C>T rs557195352 0.00011
NM_144687.4(NLRP12):c.2761G>C (p.Gly921Arg) rs199980950 0.00011
NM_144687.4(NLRP12):c.*172C>T rs185571043 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_144687.3(NLRP12):c.*430G>A rs886054602 0.00007
NM_144687.4(NLRP12):c.*126G>C rs199475872 0.00007
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.1951T>C (p.Ser651Pro) rs370478544 0.00005
NM_144687.3(NLRP12):c.*402G>A rs886054603 0.00004
NM_144687.4(NLRP12):c.*161A>C rs370149877 0.00004
NM_144687.4(NLRP12):c.-68G>A rs746346212 0.00004
NM_144687.4(NLRP12):c.1316T>A (p.Leu439Gln) rs373446463 0.00004
NM_144687.4(NLRP12):c.14C>A (p.Ala5Glu) rs761545315 0.00004
NM_144687.4(NLRP12):c.2044G>A (p.Ala682Thr) rs778688033 0.00004
NM_144687.4(NLRP12):c.2753T>C (p.Leu918Pro) rs777228735 0.00004
NM_144687.4(NLRP12):c.289+13C>T rs776591533 0.00004
NM_144687.4(NLRP12):c.1996T>C (p.Tyr666His) rs766112183 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.*108T>C rs1255385830 0.00002
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.2792A>G (p.Glu931Gly) rs566677129 0.00002
NM_144687.4(NLRP12):c.538G>A (p.Gly180Ser) rs563974183 0.00002
NM_144687.4(NLRP12):c.550G>A (p.Ala184Thr) rs766308091 0.00002
NM_144687.3(NLRP12):c.*343A>G rs540448720 0.00001
NM_144687.4(NLRP12):c.*290A>C rs886054605 0.00001
NM_144687.4(NLRP12):c.1152G>A (p.Ala384=) rs776027340 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.2928-4C>G rs980154436 0.00001
NM_144687.4(NLRP12):c.2998T>G (p.Leu1000Val) rs1219838859 0.00001
NM_144687.4(NLRP12):c.456C>A (p.Asn152Lys) rs374197946 0.00001
NM_144687.4(NLRP12):c.541C>T (p.Arg181Trp) rs758607519 0.00001
NM_144687.4(NLRP12):c.641T>C (p.Val214Ala) rs886054610 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_144687.3(NLRP12):c.*385T>G rs2091691730
NM_144687.3(NLRP12):c.*423G>T rs1033153396
NM_144687.4(NLRP12):c.1027C>G (p.Arg343Gly) rs112159191
NM_144687.4(NLRP12):c.1207G>C (p.Val403Leu) rs765948822
NM_144687.4(NLRP12):c.1342G>A (p.Gly448Arg) rs914321661
NM_144687.4(NLRP12):c.136G>C (p.Gly46Arg) rs886054611
NM_144687.4(NLRP12):c.1420A>T (p.Ile474Phe) rs886054609
NM_144687.4(NLRP12):c.1461C>T (p.Asp487=) rs555808644
NM_144687.4(NLRP12):c.1523G>A (p.Arg508Lys) rs2092040588
NM_144687.4(NLRP12):c.2046A>G (p.Ala682=) rs886054608
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.2438C>T (p.Ser813Phe) rs886054607
NM_144687.4(NLRP12):c.2493G>C (p.Glu831Asp) rs886054606
NM_144687.4(NLRP12):c.2825A>G (p.Asn942Ser) rs1220727074
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.318T>G (p.Leu106=) rs2092134647
NM_144687.4(NLRP12):c.616C>T (p.Arg206Cys) rs111754022
NM_144687.4(NLRP12):c.634A>C (p.Thr212Pro) rs1162807112
NM_144687.4(NLRP12):c.835C>G (p.Leu279Val) rs376185824

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