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

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001243133.2(NLRP3):c.1043C>T (p.Thr348Met)	rs151344629
NM_001243133.2(NLRP3):c.1055C>T (p.Ala352Val)	rs121908149
NM_001243133.2(NLRP3):c.1705G>C (p.Gly569Arg)	rs121908151
NM_001243133.2(NLRP3):c.2576A>G (p.Tyr859Cys)	rs180177452
NM_001243133.2(NLRP3):c.778C>T (p.Arg260Ter)	rs121908150
NM_001243133.2(NLRP3):c.907G>A (p.Asp303Asn)	rs121908153
NM_001243133.2(NLRP3):c.931G>A (p.Glu311Lys)	rs180177470

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