ClinVar Miner

List of variants in gene APOA1 reported as pathogenic for Familial amyloid polyneuropathy, Iowa type; Hypoalphalipoproteinemia, primary, 2; Hypoalphalipoproteinemia, primary, 2, intermediate

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_000039.3(APOA1):c.296T>C (p.Leu99Pro)	rs372520221	0.00001
NM_000039.3(APOA1):c.148G>C (p.Gly50Arg)	rs28931574

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