ClinVar Miner

List of variants studied for Familial cold autoinflammatory syndrome

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_144687.4(NLRP12):c.-140T>A rs4419163 0.78722
NM_144687.3(NLRP12):c.*324delG rs34860841 0.48770
NM_144687.4(NLRP12):c.-12C>T rs4539722 0.44990
NM_144687.4(NLRP12):c.116G>T (p.Gly39Val) rs34436714 0.22387
NM_144687.4(NLRP12):c.*69C>A rs10410581 0.05926
NM_144687.4(NLRP12):c.*266G>T rs10409778 0.05279
NM_144687.4(NLRP12):c.1206C>G (p.Phe402Leu) rs34971363 0.05162
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) rs121908147 0.00835
NM_144687.4(NLRP12):c.969T>G (p.Leu323=) rs142063194 0.00814
NM_144687.3(NLRP12):c.*362G>T rs562576939 0.00280
NM_144687.4(NLRP12):c.2141A>G (p.Asn714Ser) rs150848917 0.00278
NM_001277126.1(NLRP12):c.*471A>G rs544178725 0.00175
NM_144687.4(NLRP12):c.2212A>C (p.Arg738=) rs199966186 0.00016
NM_002661.5(PLCG2):c.2055-7G>A rs373933998 0.00014
NM_001243133.2(NLRP3):c.*177del rs796764638
NM_001243133.2(NLRP3):c.-482dup rs144128307
NM_004895.4(NLRP3):c.*324_*327delGTCT rs886506882
NM_004895.4(NLRP3):c.*328_*331delAACT rs1057515460
NM_004895.4(NLRP3):c.*351dup rs397821684
NM_144687.4(NLRP12):c.2469C>A (p.Leu823=) rs12460528
NM_144687.4(NLRP12):c.2469C>T (p.Leu823=) rs12460528
NM_144687.4(NLRP12):c.2828_2829dup (p.Arg944fs) rs533054990
NM_144687.4(NLRP12):c.2830C>A (p.Arg944=) rs104895570
NM_144687.4(NLRP12):c.2927+4_2927+5dup rs763190690

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