List of variants in gene PPOX reported as likely pathogenic for porphyria

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001122764.3(PPOX):c.503G>A (p.Arg168His)	rs41270025	0.00001
NM_001122764.3(PPOX):c.1291+1G>T	rs1571418365
NM_001122764.3(PPOX):c.313dup (p.Leu105fs)
NM_001122764.3(PPOX):c.502C>T (p.Arg168Cys)	rs121918325
NM_001122764.3(PPOX):c.869-3_869-2del	rs1558033572
NM_001122764.3(PPOX):c.87+1G>A

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