List of variants reported as pathogenic for Variegate porphyria, childhood-onset

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg)	rs12735723	0.00660
NM_001122764.3(PPOX):c.35T>C (p.Ile12Thr)	rs28936677	0.00005
NM_001122764.3(PPOX):c.1072G>A (p.Gly358Arg)	rs374936130	0.00001
NM_001122764.3(PPOX):c.1043A>G (p.Tyr348Cys)	rs900431442
NM_001122764.3(PPOX):c.1046A>C (p.Asp349Ala)	rs28936676
NM_001122764.3(PPOX):c.175C>T (p.Arg59Trp)	rs121918324
NM_001122764.3(PPOX):c.413G>C (p.Arg138Pro)	rs767419411
NM_001122764.3(PPOX):c.502C>T (p.Arg168Cys)	rs121918325
NM_001122764.3(PPOX):c.506G>A (p.Gly169Glu)	rs2525249140
NM_001122764.3(PPOX):c.657_658insAAGGCCAGCGCC (p.Ala219_Leu220insLysAlaSerAla)	rs2101876868
NM_001122764.3(PPOX):c.808G>T (p.Val270Leu)	rs2525294446
PPOX, IVS11DS, G-A, -1

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