ClinVar Miner

List of variants in gene ALAS2 studied for acute hepatic porphyria

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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NM_000032.5(ALAS2):c.1642C>T (p.Gln548Ter) rs397514730
NM_000032.5(ALAS2):c.1651_1676del (p.Ser551fs) rs879255567
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

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