ClinVar Miner

List of variants studied for Familial amyloid nephropathy with urticaria AND deafness by Genome-Nilou Lab

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001243133.2(NLRP3):c.780A>G (p.Arg260=) rs4925543 0.92770
NM_001243133.2(NLRP3):c.1302C>T (p.Ser434=) rs34298354 0.08679
NM_001243133.2(NLRP3):c.726G>A (p.Ala242=) rs3806268

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