ClinVar Miner

List of variants in gene NLRP3 reported as uncertain significance for CINCA syndrome

Included ClinVar conditions (4):
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Gene type:
ClinVar version:
Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) rs121908147 0.00835
NM_001243133.2(NLRP3):c.3048A>C (p.Leu1016Phe) rs143548979 0.00068
NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys) rs139833874 0.00061
NM_001243133.2(NLRP3):c.-460G>A rs199475727 0.00046
NM_001243133.2(NLRP3):c.-710C>T rs199723383 0.00038
NM_001243133.2(NLRP3):c.-686C>T rs201896158 0.00026
NM_001243133.2(NLRP3):c.638A>G (p.His213Arg) rs150396172 0.00025
NM_001243133.2(NLRP3):c.-68C>T rs201758466 0.00020
NM_001243133.2(NLRP3):c.488A>G (p.Asn163Ser) rs199475733 0.00015
NM_001243133.2(NLRP3):c.-369G>A rs202203407 0.00014
NM_001243133.2(NLRP3):c.2686T>C (p.Ser896Pro) rs151205016 0.00010
NM_001243133.2(NLRP3):c.1936G>T (p.Asp646Tyr) rs138061418 0.00009
NM_001243133.2(NLRP3):c.2120C>A (p.Pro707Gln) rs200378519 0.00009
NM_001243133.2(NLRP3):c.2273T>C (p.Val758Ala) rs770791406 0.00007
NM_001243133.2(NLRP3):c.-407C>T rs12741165 0.00006
NM_001243133.2(NLRP3):c.2982G>C (p.Gln994His) rs148150585 0.00006
NM_001243133.2(NLRP3):c.-122T>C rs202234129 0.00005
NM_001243133.2(NLRP3):c.1021G>A (p.Glu341Lys) rs369910640 0.00005
NM_001243133.2(NLRP3):c.-629C>T rs200090360 0.00004
NM_001243133.2(NLRP3):c.1090C>A (p.Arg364=) rs994458759 0.00004
NM_001243133.2(NLRP3):c.1625C>T (p.Thr542Met) rs199856287 0.00004
NM_001243133.2(NLRP3):c.1780T>C (p.Leu594=) rs895366086 0.00004
NM_001243133.2(NLRP3):c.2270G>C (p.Arg757Thr) rs201466599 0.00004
NM_001243133.2(NLRP3):c.2761A>G (p.Thr921Ala) rs200089542 0.00004
NM_001243133.2(NLRP3):c.329G>A (p.Ser110Asn) rs202050558 0.00004
NM_001243133.2(NLRP3):c.-339C>T rs201966092 0.00003
NM_001243133.2(NLRP3):c.-74G>A rs202076321 0.00003
NM_001243133.2(NLRP3):c.1669A>G (p.Thr557Ala) rs180177461 0.00003
NM_001243133.2(NLRP3):c.1814A>T (p.Glu605Val) rs745564372 0.00003
NM_001243133.2(NLRP3):c.2536G>C (p.Ala846Pro) rs773376112 0.00003
NM_001243133.2(NLRP3):c.3037A>G (p.Lys1013Glu) rs771315000 0.00003
NM_001243133.2(NLRP3):c.403C>T (p.Arg135Cys) rs201525433 0.00003
NM_001243133.2(NLRP3):c.-203G>A rs1042817230 0.00002
NM_001243133.2(NLRP3):c.-219G>A rs1282180723 0.00002
NM_001243133.2(NLRP3):c.1371G>T (p.Glu457Asp) rs191754224 0.00002
NM_001243133.2(NLRP3):c.1918T>G (p.Phe640Val) rs1024570390 0.00002
NM_001243133.2(NLRP3):c.2285C>T (p.Thr762Met) rs759466218 0.00002
NM_001243133.2(NLRP3):c.2336G>A (p.Gly779Asp) rs768252357 0.00002
NM_001243133.2(NLRP3):c.2812G>A (p.Asp938Asn) rs201260331 0.00002
NM_001243133.2(NLRP3):c.386A>G (p.Lys129Arg) rs188623199 0.00002
NM_001243133.2(NLRP3):c.397+6C>T rs201165941 0.00002
NM_001243133.2(NLRP3):c.-685G>A rs768557674 0.00001
NM_001243133.2(NLRP3):c.1158T>A (p.Asp386Glu) rs779193213 0.00001
NM_001243133.2(NLRP3):c.122G>A (p.Arg41Lys) rs201384608 0.00001
NM_001243133.2(NLRP3):c.1643G>A (p.Arg548His) rs200258061 0.00001
NM_001243133.2(NLRP3):c.169A>G (p.Ile57Val) rs1366541794 0.00001
NM_001243133.2(NLRP3):c.1921G>A (p.Val641Met) rs1662794808 0.00001
NM_001243133.2(NLRP3):c.1937A>G (p.Asp646Gly) rs1342790456 0.00001
NM_001243133.2(NLRP3):c.2098G>A (p.Asp700Asn) rs781561828 0.00001
NM_001243133.2(NLRP3):c.2244C>G (p.Asp748Glu) rs780246397 0.00001
NM_001243133.2(NLRP3):c.234G>A (p.Arg78=) rs202232879 0.00001
NM_001243133.2(NLRP3):c.2392C>A (p.Leu798Met) rs756392002 0.00001
NM_001243133.2(NLRP3):c.2530G>T (p.Asp844Tyr) rs1409419107 0.00001
NM_001243133.2(NLRP3):c.2680C>T (p.Leu894Phe) rs1157282902 0.00001
NM_001243133.2(NLRP3):c.28A>C (p.Arg10=) rs1057515531 0.00001
NM_001243133.2(NLRP3):c.2912A>C (p.Lys971Thr) rs1247641472 0.00001
NM_004895.4(NLRP3):c.*431G>A rs1296786716 0.00001
NM_004895.4(NLRP3):c.*604A>C rs1057515532 0.00001
NM_001243133.2(NLRP3):c.*139T>G rs1664758254
NM_001243133.2(NLRP3):c.*2A>G rs1664748029
NM_001243133.2(NLRP3):c.-482dup rs144128307
NM_001243133.2(NLRP3):c.-523G>A rs1662192950
NM_001243133.2(NLRP3):c.-533C>G rs141994679
NM_001243133.2(NLRP3):c.1090C>T (p.Arg364Trp) rs994458759
NM_001243133.2(NLRP3):c.1153T>G (p.Ser385Ala) rs199680838
NM_001243133.2(NLRP3):c.127C>T (p.Gln43Ter) rs1558185400
NM_001243133.2(NLRP3):c.2012G>C (p.Cys671Ser) rs199885115
NM_001243133.2(NLRP3):c.2255G>A (p.Gly752Glu) rs1305028279
NM_001243133.2(NLRP3):c.2299G>A (p.Gly767Ser) rs866534904
NM_001243133.2(NLRP3):c.2330G>A (p.Arg777His) rs1663599540
NM_001243133.2(NLRP3):c.2342C>T (p.Ser781Leu) rs201969526
NM_001243133.2(NLRP3):c.2387A>G (p.Gln796Arg) rs2103162880
NM_001243133.2(NLRP3):c.2505C>T (p.Cys835=) rs1351993448
NM_001243133.2(NLRP3):c.2632A>G (p.Lys878Glu) rs1057515488
NM_001243133.2(NLRP3):c.2784A>C (p.Lys928Asn) rs876660975
NM_001243133.2(NLRP3):c.2834+1G>A rs1572228102
NM_001243133.2(NLRP3):c.2908C>T (p.Arg970Ter) rs1450171900
NM_001243133.2(NLRP3):c.292C>G (p.Arg98Gly) rs375013904
NM_001243133.2(NLRP3):c.3042T>C (p.Ser1014=) rs1057515489
NM_001243133.2(NLRP3):c.564C>A (p.Ile188=) rs147631017
NM_001243133.2(NLRP3):c.565G>A (p.Gly189Ser) rs201877163
NM_001243133.2(NLRP3):c.743A>G (p.Gln248Arg) rs876660971
NM_001243133.2(NLRP3):c.964A>G (p.Lys322Glu) rs1662708025
NM_004895.4(NLRP3):c.*324_*327delGTCT rs886506882
NM_004895.4(NLRP3):c.*328_*331delAACT rs1057515460
NM_004895.4(NLRP3):c.*378A>C rs1664772078

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