ClinVar Miner

List of variants in gene APOA5 reported as uncertain significance for hypertriglyceridemia

Included ClinVar conditions (6):

Coronary artery disorder; Hypertriglyceridemia; Hypertensive disorder; Diabetes
Familial type 5 hyperlipoproteinemia; Hypertriglyceridemia 1
Hypertelorism; Hyperhydroxyprolinemia; Enuresis; Sleep abnormality; Tall stature; Eczematoid dermatitis; Delayed speech and language development; Frontal bossing; Triangular face; Thin upper lip vermilion; Recurrent otitis media; Microdontia; Neutropenia; Hypertriglyceridemia; Downturned corners of mouth; Increased blood urea nitrogen; Hypertyrosinemia; Somatic sensory dysfunction; Delayed fine motor development; Abnormal circulating serine family amino acid concentration; Bronchiolitis; Monocytopenia; Abnormal emotional state; Encopresis; Asthma
Hypertriglyceridemia
Hypertriglyceridemia 1
Hypertriglyceridemia 2

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_001371904.1(APOA5):c.553G>T (p.Gly185Cys)	rs2075291	0.00514
NM_001371904.1(APOA5):c.1081A>C (p.Ser361Arg)
NM_001371904.1(APOA5):c.644C>T (p.Pro215Leu)

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