ClinVar Miner

List of variants reported as benign 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
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_006269.2(RP1):c.2953A>T (p.Asn985Tyr)	rs2293869	0.33006
NM_032607.3(CREB3L3):c.1245G>A (p.Thr415=)	rs115268777	0.01163
NM_032607.3(CREB3L3):c.891-14C>T	rs192623406	0.00180
NM_032607.3(CREB3L3):c.313G>A (p.Gly105Arg)	rs77002741	0.00176
NM_001371904.1(APOA5):c.56C>G (p.Ser19Trp)	rs3135506

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