ClinVar Miner

List of variants reported as pathogenic for hepatic porphyria by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Included ClinVar conditions (17):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000140.5(FECH):c.315-48T>C	rs2272783	0.06200
NM_001122764.3(PPOX):c.199del (p.Ala66_Leu67insTer)	rs786204784

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