ClinVar Miner

List of variants in gene CELA2A studied 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
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_033440.3(CELA2A):c.209C>T (p.Thr70Met)	rs372947070	0.00007
NM_033440.3(CELA2A):c.253C>A (p.Leu85Met)	rs558493952	0.00001
NM_033440.3(CELA2A):c.361G>A (p.Asp121Asn)	rs1352544800
NM_033440.3(CELA2A):c.639+1G>C	rs752331004

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