ClinVar Miner

List of variants in gene HTRA1 reported as uncertain significance for cerebral arteriopathy with subcortical infarcts and leukoencephalopathy

Included ClinVar conditions (10):

Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
CARASIL syndrome
CARASIL syndrome; Age related macular degeneration 7; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; Lateral meningocele syndrome
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; Lateral meningocele syndrome; Myofibromatosis, infantile, 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; Lateral meningocele syndrome; Sneddon syndrome; Myofibromatosis, infantile, 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; Vascular dementia

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)
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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_002775.5(HTRA1):c.1333G>A (p.Ala445Thr)	rs371279115	0.00013
NM_002775.5(HTRA1):c.820C>T (p.Arg274Trp)	rs748074236	0.00003
NM_002775.5(HTRA1):c.590G>A (p.Arg197Gln)	rs1180835237	0.00001
NM_002775.5(HTRA1):c.835G>A (p.Val279Met)	rs745305935	0.00001
NM_002775.5(HTRA1):c.1127C>T (p.Ala376Val)
NM_002775.5(HTRA1):c.138C>A (p.Cys46Ter)	rs1394472516
NM_002775.5(HTRA1):c.283G>T (p.Val95Leu)	rs2133905276
NM_002775.5(HTRA1):c.854C>T (p.Pro285Leu)	rs587776446
NM_002775.5(HTRA1):c.857T>C (p.Phe286Ser)
NM_002775.5(HTRA1):c.910G>C (p.Gly304Arg)
NM_002775.5(HTRA1):c.983C>T (p.Ser328Leu)	rs2133449911

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