ClinVar Miner

List of variants in gene NLRP3 reported as uncertain significance by GeneDx

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Gene type:
ClinVar version:
Total variants: 97
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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.1463G>A (p.Arg488Lys) rs145268073 0.00070
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.404G>A (p.Arg135His) rs138946894 0.00029
NM_001243133.2(NLRP3):c.2668G>T (p.Val890Leu) rs193085132 0.00025
NM_001243133.2(NLRP3):c.638A>G (p.His213Arg) rs150396172 0.00025
NM_001243133.2(NLRP3):c.937A>G (p.Ile313Val) rs180177501 0.00025
NM_001243133.2(NLRP3):c.674C>T (p.Ala225Val) rs180177493 0.00019
NM_001243133.2(NLRP3):c.2611G>A (p.Ala871Thr) rs201867582 0.00016
NM_001243133.2(NLRP3):c.2018G>A (p.Arg673Gln) rs142651552 0.00015
NM_001243133.2(NLRP3):c.488A>G (p.Asn163Ser) rs199475733 0.00015
NM_001243133.2(NLRP3):c.1079T>A (p.Leu360Gln) rs201593863 0.00012
NM_001243133.2(NLRP3):c.282A>T (p.Ser94=) rs374949230 0.00011
NM_001243133.2(NLRP3):c.2493-8T>A rs199858933 0.00010
NM_001243133.2(NLRP3):c.2686T>C (p.Ser896Pro) rs151205016 0.00010
NM_001243133.2(NLRP3):c.944C>T (p.Pro315Leu) rs180177462 0.00010
NM_001243133.2(NLRP3):c.1936G>T (p.Asp646Tyr) rs138061418 0.00009
NM_001243133.2(NLRP3):c.526C>T (p.Arg176Trp) rs201867990 0.00009
NM_001243133.2(NLRP3):c.2273T>C (p.Val758Ala) rs770791406 0.00007
NM_001243133.2(NLRP3):c.1361G>A (p.Gly454Glu) rs199696688 0.00006
NM_001243133.2(NLRP3):c.2425G>A (p.Gly809Ser) rs141389711 0.00006
NM_001243133.2(NLRP3):c.2982G>C (p.Gln994His) rs148150585 0.00006
NM_001243133.2(NLRP3):c.2987G>C (p.Cys996Ser) rs199517145 0.00006
NM_001243133.2(NLRP3):c.1021G>A (p.Glu341Lys) rs369910640 0.00005
NM_001243133.2(NLRP3):c.1625C>T (p.Thr542Met) rs199856287 0.00004
NM_001243133.2(NLRP3):c.2270G>C (p.Arg757Thr) rs201466599 0.00004
NM_001243133.2(NLRP3):c.329G>A (p.Ser110Asn) rs202050558 0.00004
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.587G>A (p.Ser196Asn) rs180177459 0.00003
NM_001243133.2(NLRP3):c.1102A>C (p.Ile368Leu) rs200735245 0.00002
NM_001243133.2(NLRP3):c.1333C>T (p.Leu445Phe) rs202121800 0.00002
NM_001243133.2(NLRP3):c.2336G>A (p.Gly779Asp) rs768252357 0.00002
NM_001243133.2(NLRP3):c.2419G>A (p.Ala807Thr) rs201096167 0.00002
NM_001243133.2(NLRP3):c.2553C>G (p.Thr851=) rs756892237 0.00002
NM_001243133.2(NLRP3):c.2738C>T (p.Thr913Met) rs765925466 0.00002
NM_001243133.2(NLRP3):c.386A>G (p.Lys129Arg) rs188623199 0.00002
NM_001243133.2(NLRP3):c.503G>A (p.Arg168Gln) rs180177464 0.00002
NM_001243133.2(NLRP3):c.1183A>G (p.Ser395Gly) rs747102656 0.00001
NM_001243133.2(NLRP3):c.13C>T (p.Arg5Cys) rs1033902069 0.00001
NM_001243133.2(NLRP3):c.146A>G (p.His49Arg) rs367663649 0.00001
NM_001243133.2(NLRP3):c.1666G>A (p.Val556Met) rs199637520 0.00001
NM_001243133.2(NLRP3):c.169A>G (p.Ile57Val) rs1366541794 0.00001
NM_001243133.2(NLRP3):c.1839A>T (p.Lys613Asn) rs876660973 0.00001
NM_001243133.2(NLRP3):c.194C>G (p.Ala65Gly) rs763252989 0.00001
NM_001243133.2(NLRP3):c.2392C>A (p.Leu798Met) rs756392002 0.00001
NM_001243133.2(NLRP3):c.2492+3G>A rs754098297 0.00001
NM_001243133.2(NLRP3):c.628G>A (p.Asp210Asn) rs372038150 0.00001
NM_001243133.2(NLRP3):c.717G>T (p.Leu239Phe) rs770294045 0.00001
NM_001243133.2(NLRP3):c.728C>T (p.Ser243Leu) rs1572168591 0.00001
NM_001243133.2(NLRP3):c.1064A>G (p.Lys355Arg) rs876660972
NM_001243133.2(NLRP3):c.10A>G (p.Thr4Ala)
NM_001243133.2(NLRP3):c.1201G>A (p.Glu401Lys)
NM_001243133.2(NLRP3):c.1246G>A (p.Val416Met)
NM_001243133.2(NLRP3):c.1297A>G (p.Thr433Ala) rs876661016
NM_001243133.2(NLRP3):c.1456G>A (p.Asp486Asn)
NM_001243133.2(NLRP3):c.1551C>G (p.Ser517Arg)
NM_001243133.2(NLRP3):c.1630G>C (p.Val544Leu) rs202204283
NM_001243133.2(NLRP3):c.172G>A (p.Asp58Asn) rs1131691891
NM_001243133.2(NLRP3):c.2068G>T (p.Glu690Ter)
NM_001243133.2(NLRP3):c.2087G>T (p.Gly696Val)
NM_001243133.2(NLRP3):c.2133T>A (p.His711Gln) rs2103114172
NM_001243133.2(NLRP3):c.224C>A (p.Ala75Glu) rs200288250
NM_001243133.2(NLRP3):c.2257G>A (p.Asp753Asn)
NM_001243133.2(NLRP3):c.2299G>A (p.Gly767Ser) rs866534904
NM_001243133.2(NLRP3):c.2322G>T (p.Trp774Cys)
NM_001243133.2(NLRP3):c.2330G>A (p.Arg777His) rs1663599540
NM_001243133.2(NLRP3):c.2377A>G (p.Ser793Gly) rs1064797023
NM_001243133.2(NLRP3):c.2474G>T (p.Cys825Phe)
NM_001243133.2(NLRP3):c.2476A>C (p.Asn826His)
NM_001243133.2(NLRP3):c.2519C>A (p.Ala840Glu) rs992612861
NM_001243133.2(NLRP3):c.2521T>G (p.Cys841Gly) rs2103173487
NM_001243133.2(NLRP3):c.2551A>G (p.Thr851Ala)
NM_001243133.2(NLRP3):c.2565G>T (p.Leu855=) rs2103173872
NM_001243133.2(NLRP3):c.2738C>G (p.Thr913Arg)
NM_001243133.2(NLRP3):c.2744T>G (p.Leu915Arg) rs2103233077
NM_001243133.2(NLRP3):c.2756G>A (p.Gly919Asp) rs2103233129
NM_001243133.2(NLRP3):c.2784A>C (p.Lys928Asn) rs876660975
NM_001243133.2(NLRP3):c.2855C>A (p.Thr952Lys) rs139814109
NM_001243133.2(NLRP3):c.2889_2896delinsTTCCACACTTTC (p.Thr964fs) rs1553293315
NM_001243133.2(NLRP3):c.292C>T (p.Arg98Cys) rs375013904
NM_001243133.2(NLRP3):c.2944C>G (p.Leu982Val) rs1572229891
NM_001243133.2(NLRP3):c.2963G>C (p.Cys988Ser) rs876660974
NM_001243133.2(NLRP3):c.3071C>T (p.Pro1024Leu)
NM_001243133.2(NLRP3):c.3095C>A (p.Pro1032His) rs2103261854
NM_001243133.2(NLRP3):c.336A>G (p.Glu112=) rs1064796501
NM_001243133.2(NLRP3):c.532_535del (p.Gln178fs)
NM_001243133.2(NLRP3):c.578C>T (p.Thr193Met) rs76291085
NM_001243133.2(NLRP3):c.715T>A (p.Leu239Met) rs1395728949
NM_001243133.2(NLRP3):c.725C>T (p.Ala242Val) rs1041601343
NM_001243133.2(NLRP3):c.743A>G (p.Gln248Arg) rs876660971
NM_001243133.2(NLRP3):c.760C>A (p.Leu254Met) rs1553286385
NM_001243133.2(NLRP3):c.769A>T (p.Ile257Phe) rs2103107022
NM_001243133.2(NLRP3):c.76C>T (p.His26Tyr) rs763551829
NM_001243133.2(NLRP3):c.770T>A (p.Ile257Asn) rs2103107030
NM_001243133.2(NLRP3):c.86A>T (p.Asp29Val) rs2103083832

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