ClinVar Miner

List of variants reported as pathogenic for Familial amyloid nephropathy with urticaria AND deafness

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Total variants: 5
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HGVS dbSNP
NM_001243133.1(NLRP3):c.1055C>T (p.Ala352Val) rs121908149
NM_001243133.1(NLRP3):c.1705G>C (p.Gly569Arg) rs121908151
NM_004895.4(NLRP3):c.1049C>T (p.Thr350Met) rs151344629
NM_004895.4(NLRP3):c.784C>T (p.Arg262Trp) rs121908150
NM_004895.4(NLRP3):c.913G>A (p.Asp305Asn) rs121908153

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