ClinVar Miner

List of variants studied for acute hepatic porphyria by GenomeConnect, ClinGen

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_000097.7(CPOX):c.814A>C (p.Asn272His) rs1131857
NM_001122764.3(PPOX):c.590T>C (p.Ile197Thr) rs1553238545

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