ClinVar Miner

List of variants reported as likely benign for Familial amyloid nephropathy with urticaria AND deafness by Illumina Laboratory Services, Illumina

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001243133.2(NLRP3):c.2301C>G (p.Gly767=) rs150229101 0.00057
NM_001243133.2(NLRP3):c.2855C>T (p.Thr952Met) rs139814109 0.00051
NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly) rs147946775 0.00046
NM_001243133.2(NLRP3):c.1245C>T (p.Ile415=) rs139852370 0.00044
NM_001243133.2(NLRP3):c.208G>A (p.Val70Met) rs117287351 0.00044
NM_001243133.2(NLRP3):c.1645T>C (p.Leu549=) rs144469697 0.00032
NM_001243133.2(NLRP3):c.944C>T (p.Pro315Leu) rs180177462 0.00010
NM_001243133.2(NLRP3):c.1361G>A (p.Gly454Glu) rs199696688 0.00005
NM_001243133.2(NLRP3):c.476G>T (p.Ser159Ile) rs374170024 0.00004

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