ClinVar Miner

List of variants reported as pathogenic for porphyria by Mount Sinai Diagnostic Laboratory, Icahn School of Medicine at Mount Sinai

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_000190.4(HMBS):c.500G>A (p.Arg167Gln)	rs118204095	0.00006
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn)	rs536814318

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