List of variants in gene NLRP3 reported as uncertain significance for Chronic infantile neurological, cutaneous and articular syndrome; Familial amyloid nephropathy with urticaria AND deafness; Familial cold autoinflammatory syndrome 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 7

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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.1814A>T (p.Glu605Val)	rs745564372	0.00003
NM_001243133.2(NLRP3):c.1158T>A (p.Asp386Glu)	rs779193213	0.00001
NM_001243133.2(NLRP3):c.2098G>A (p.Asp700Asn)	rs781561828	0.00001
NM_001243133.2(NLRP3):c.2834+1G>A	rs1572228102

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