ClinVar Miner

List of variants reported as pathogenic for porphyria by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (23):

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_001122764.3(PPOX):c.1072G>A (p.Gly358Arg)	rs374936130	0.00001
NM_000374.5(UROD):c.21-1G>C	rs1644814606

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