ClinVar Miner

List of variants in gene HMBS reported as not provided by GenomeConnect - Invitae Patient Insights Network

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
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.992C>T (p.Ala331Val)	rs770086296	0.00004

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