ClinVar Miner

List of variants reported as pathogenic for acute hepatic porphyria by GeneReviews

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_000032.5(ALAS2):c.1699_1700del (p.Met567fs) rs387906473
NM_000032.5(ALAS2):c.1702_1705AGTG[1] (p.Glu569fs) rs387906472
NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe) rs139596860
NM_000140.4(FECH):c.315-48T>C rs2272783
NM_000374.5(UROD):c.578G>C (p.Arg193Pro) rs143823335
NM_000374.5(UROD):c.636+1G>C rs145195562
NM_000374.5(UROD):c.842G>A (p.Gly281Glu) rs121918057
NM_001122764.3(PPOX):c.175C>T (p.Arg59Trp) rs121918324
NM_001122764.3(PPOX):c.35T>C (p.Ile12Thr) rs28936677

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