ClinVar Miner

List of variants reported as benign for Chronic infantile neurological, cutaneous and articular syndrome

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_001243133.2(NLRP3):c.-411T>C rs7523422 0.99765
NM_001243133.2(NLRP3):c.780A>G (p.Arg260=) rs4925543 0.92770
NM_001243133.2(NLRP3):c.*230G>C rs10754558 0.63911
NM_004895.4(NLRP3):c.*489C>T rs10802502 0.54558
NM_004895.4(NLRP3):c.*396T>A rs10802501 0.17224
NM_001243133.2(NLRP3):c.657C>T (p.Thr219=) rs7525979 0.10943
NM_001243133.2(NLRP3):c.-561T>G rs72771992 0.10410
NM_001243133.2(NLRP3):c.1302C>T (p.Ser434=) rs34298354 0.08679
NM_001243133.2(NLRP3):c.-40G>T rs73136263 0.03689
NM_001243133.2(NLRP3):c.-231G>A rs138900557 0.03547
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) rs35829419 0.03262
NM_001243133.2(NLRP3):c.-543A>T rs116502550 0.00720
NM_001243133.2(NLRP3):c.423C>T (p.Tyr141=) rs56710146 0.00680
NM_001243133.2(NLRP3):c.1231C>T (p.Leu411=) rs148478875 0.00638
NM_001243133.2(NLRP3):c.1600C>T (p.Leu534=) rs116054301 0.00596
NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=) rs41311573 0.00548
NM_001243133.2(NLRP3):c.1389C>T (p.His463=) rs111400208 0.00354
NM_001243133.2(NLRP3):c.397+7G>A rs192297357 0.00350
NM_001243133.2(NLRP3):c.-533C>T rs141994679 0.00248
NM_001243133.2(NLRP3):c.1920C>T (p.Phe640=) rs34698071 0.00230
NM_001243133.2(NLRP3):c.1119G>A (p.Glu373=) rs138613962 0.00139
NM_001243133.2(NLRP3):c.*116G>T rs199713471 0.00136
NM_001243133.2(NLRP3):c.930C>T (p.Asp310=) rs143840033 0.00076
NM_001243133.2(NLRP3):c.203T>C (p.Met68Thr) rs147559626 0.00048
NM_001243133.2(NLRP3):c.1032G>A (p.Leu344=) rs180177471 0.00039
NM_001243133.2(NLRP3):c.937A>G (p.Ile313Val) rs180177501 0.00025
NM_001243133.2(NLRP3):c.2118C>T (p.Leu706=) rs149493236 0.00021
NM_001243133.2(NLRP3):c.1044G>A (p.Thr348=) rs143140947 0.00007
NM_001243133.2(NLRP3):c.277+11G>A rs577522959 0.00007
NM_001243133.2(NLRP3):c.2214C>T (p.Ser738=) rs183128734 0.00006
NM_001243133.2(NLRP3):c.2425G>A (p.Gly809Ser) rs141389711 0.00006
NM_001243133.2(NLRP3):c.398-15C>T rs200906786 0.00006
NM_001243133.2(NLRP3):c.398-5C>T rs200459664 0.00006
NM_001243133.2(NLRP3):c.207C>T (p.Ala69=) rs200082602 0.00005
NM_001243133.2(NLRP3):c.2424C>T (p.Leu808=) rs147154764 0.00005
NM_001243133.2(NLRP3):c.1584C>T (p.Ala528=) rs201644343 0.00003
NM_001243133.2(NLRP3):c.587G>A (p.Ser196Asn) rs180177459 0.00003
NM_001243133.2(NLRP3):c.2433C>T (p.Phe811=) rs143175395 0.00002
NM_001243133.2(NLRP3):c.194C>G (p.Ala65Gly) rs763252989 0.00001
NM_001243133.2(NLRP3):c.2598A>G (p.Gly866=) rs763106202 0.00001
NM_001243133.2(NLRP3):c.*177del rs796764638
NM_001243133.2(NLRP3):c.1021G>T (p.Glu341Ter)
NM_001243133.2(NLRP3):c.1374C>T (p.His458=) rs180177481
NM_001243133.2(NLRP3):c.1440C>A (p.Ile480=) rs756162800
NM_001243133.2(NLRP3):c.2185C>A (p.Arg729=) rs148590318
NM_001243133.2(NLRP3):c.726G>A (p.Ala242=) rs3806268
NM_004895.4(NLRP3):c.*351dup rs397821684

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