ClinVar Miner

List of variants in gene PPOX reported as pathogenic for acute hepatic porphyria

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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NM_001122764.3(PPOX):c.1072G>A (p.Gly358Arg)
NM_001122764.3(PPOX):c.175C>T (p.Arg59Trp) rs121918324
NM_001122764.3(PPOX):c.199del (p.Ala66_Leu67insTer) rs786204784
NM_001122764.3(PPOX):c.502C>T (p.Arg168Cys) rs121918325
NM_001122764.3(PPOX):c.503G>A (p.Arg168His) rs41270025
NM_001122764.3(PPOX):c.538_539del (p.Ile180fs) rs1571357779
NM_001122764.3(PPOX):c.59A>C (p.His20Pro) rs121918326
NM_001122764.3(PPOX):c.694G>C (p.Gly232Arg) rs121918323
PPOX, 1-BP INS, 1022G
PPOX, 5-BP DEL, NT1239

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