ClinVar Miner

List of variants reported as uncertain significance for Familial cold autoinflammatory syndrome 2 by Illumina Laboratory Services, Illumina

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_144687.3(NLRP12):c.-143C>A rs190223587 0.00121
NM_144687.3(NLRP12):c.-226A>G rs547032329 0.00058
NM_144687.3(NLRP12):c.*395C>T rs886054604 0.00037
NM_144687.4(NLRP12):c.-56G>A rs112227599 0.00035
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.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.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.2574A>G (p.Leu858=) rs750552324 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.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.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.1523G>A (p.Arg508Lys) rs2092040588
NM_144687.4(NLRP12):c.1732_1733del (p.Cys580fs) rs1568677542
NM_144687.4(NLRP12):c.2046A>G (p.Ala682=) rs886054608
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.318T>G (p.Leu106=) rs2092134647
NM_144687.4(NLRP12):c.387C>A (p.Tyr129Ter) rs749761816
NM_144687.4(NLRP12):c.634A>C (p.Thr212Pro) rs1162807112
NM_144687.4(NLRP12):c.835C>G (p.Leu279Val) rs376185824

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