ClinVar Miner

List of variants studied for Familial amyloid nephropathy with urticaria AND deafness by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001243133.2(NLRP3):c.1985T>C (p.Met662Thr) rs180177435
NM_001243133.2(NLRP3):c.2576A>G (p.Tyr859Cys) rs180177452
NM_001243133.2(NLRP3):c.931G>A (p.Glu311Lys) rs180177470

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