ClinVar Miner

List of variants in gene NLRP3 studied for Cryopyrin associated periodic syndrome

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Total variants: 74
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HGVS dbSNP
NM_004895.4(NLRP3):c.1026C>T (p.Pro342=) rs41311573
NM_004895.4(NLRP3):c.1038G>A (p.Leu346=) rs180177471
NM_004895.4(NLRP3):c.1049C>T (p.Thr350Met) rs151344629
NM_004895.4(NLRP3):c.1064T>C (p.Leu355Pro) rs28937896
NM_004895.4(NLRP3):c.1096C>T (p.Arg366Trp) rs994458759
NM_004895.4(NLRP3):c.1125G>A (p.Glu375=) rs138613962
NM_004895.4(NLRP3):c.1181C>A (p.Ala394Glu) rs1553286687
NM_004895.4(NLRP3):c.1192C>G (p.Leu398Val) rs906785956
NM_004895.4(NLRP3):c.1237C>T (p.Leu413=) rs148478875
NM_004895.4(NLRP3):c.1312A>G (p.Thr438Ala) rs180177465
NM_004895.4(NLRP3):c.1322C>T (p.Ala441Val) rs121908146
NM_004895.4(NLRP3):c.1339C>T (p.Leu447Phe) rs202121800
NM_004895.4(NLRP3):c.1395C>T (p.His465=) rs111400208
NM_004895.4(NLRP3):c.1407C>T (p.Leu469=) rs141637807
NM_004895.4(NLRP3):c.1469G>A (p.Arg490Lys) rs145268073
NM_004895.4(NLRP3):c.1484A>G (p.Gln495Arg)
NM_004895.4(NLRP3):c.1579G>A (p.Glu527Lys) rs180177458
NM_004895.4(NLRP3):c.1594A>G (p.Met532Val)
NM_004895.4(NLRP3):c.1606C>T (p.Leu536=) rs116054301
NM_004895.4(NLRP3):c.1645A>T (p.Ser549Cys) rs139833874
NM_004895.4(NLRP3):c.1667G>A (p.Arg556Gln) rs1558192523
NM_004895.4(NLRP3):c.1672G>A (p.Val558Met)
NM_004895.4(NLRP3):c.1703T>A (p.Phe568Tyr)
NM_004895.4(NLRP3):c.1717T>G (p.Leu573Val)
NM_004895.4(NLRP3):c.178G>A (p.Asp60Asn) rs1131691891
NM_004895.4(NLRP3):c.1820A>T (p.Glu607Val)
NM_004895.4(NLRP3):c.1835T>C (p.Ile612Thr)
NM_004895.4(NLRP3):c.1895A>T (p.Tyr632Phe)
NM_004895.4(NLRP3):c.1982T>G (p.Met661Arg)
NM_004895.4(NLRP3):c.2018G>C (p.Cys673Ser)
NM_004895.4(NLRP3):c.2101C>T (p.Leu701Phe)
NM_004895.4(NLRP3):c.2113C>A (p.Gln705Lys) rs35829419
NM_004895.4(NLRP3):c.2126C>A (p.Pro709Gln)
NM_004895.4(NLRP3):c.2140G>T (p.Ala714Ser)
NM_004895.4(NLRP3):c.214G>A (p.Val72Met) rs117287351
NM_004895.4(NLRP3):c.2154T>C (p.His718=) rs199592175
NM_004895.4(NLRP3):c.2156+4A>G
NM_004895.4(NLRP3):c.2157-7T>C rs116546330
NM_004895.4(NLRP3):c.2182A>G (p.Ser728Gly) rs147946775
NM_004895.4(NLRP3):c.225C>T (p.Phe75=) rs201980166
NM_004895.4(NLRP3):c.230C>T (p.Ala77Val) rs200288250
NM_004895.4(NLRP3):c.2349G>A (p.Ser783=) rs764753476
NM_004895.4(NLRP3):c.2494C>A (p.Leu832Ile) rs114158404
NM_004895.4(NLRP3):c.2582A>C (p.Tyr861Ser) rs180177452
NM_004895.4(NLRP3):c.2597C>T (p.Ala866Val)
NM_004895.4(NLRP3):c.2617G>A (p.Ala873Thr) rs201867582
NM_004895.4(NLRP3):c.2674G>T (p.Val892Leu) rs193085132
NM_004895.4(NLRP3):c.2709T>G (p.Ala903=) rs138089800
NM_004895.4(NLRP3):c.2759G>A (p.Arg920Gln) rs1553293095
NM_004895.4(NLRP3):c.2767A>G (p.Thr923Ala) rs200089542
NM_004895.4(NLRP3):c.2813A>G (p.His938Arg)
NM_004895.4(NLRP3):c.2825A>G (p.Lys942Arg) rs201580005
NM_004895.4(NLRP3):c.2914C>T (p.Arg972Ter)
NM_004895.4(NLRP3):c.299G>A (p.Arg100His) rs201887896
NM_004895.4(NLRP3):c.3043A>G (p.Lys1015Glu) rs771315000
NM_004895.4(NLRP3):c.309T>A (p.Asn103Lys)
NM_004895.4(NLRP3):c.403+5G>A
NM_004895.4(NLRP3):c.403+7G>A rs192297357
NM_004895.4(NLRP3):c.429C>T (p.Tyr143=) rs56710146
NM_004895.4(NLRP3):c.437G>A (p.Ser146Asn)
NM_004895.4(NLRP3):c.585G>A (p.Thr195=) rs149659331
NM_004895.4(NLRP3):c.598G>A (p.Val200Met) rs121908147
NM_004895.4(NLRP3):c.616G>A (p.Glu206Lys) rs1558189985
NM_004895.4(NLRP3):c.624G>T (p.Leu208=) rs201463849
NM_004895.4(NLRP3):c.680C>T (p.Ala227Val) rs180177493
NM_004895.4(NLRP3):c.721T>A (p.Leu241Met) rs1395728949
NM_004895.4(NLRP3):c.769_770del (p.Phe257fs)
NM_004895.4(NLRP3):c.786G>A (p.Arg262=) rs4925543
NM_004895.4(NLRP3):c.854C>T (p.Pro285Leu)
NM_004895.4(NLRP3):c.906C>T (p.Asp302=) rs145826369
NM_004895.4(NLRP3):c.913G>A (p.Asp305Asn) rs121908153
NM_004895.4(NLRP3):c.918G>C (p.Glu306Asp)
NM_004895.4(NLRP3):c.936C>T (p.Asp312=) rs143840033
NM_004895.4(NLRP3):c.943A>G (p.Ile315Val) rs180177501

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