ClinVar Miner

List of variants studied for cerebral arterial disease by GOSgene, University College London Great Ormond Street Institute of Child Health

Included ClinVar conditions (12):

Aneurysm, intracranial berry, 12
Aortic aneurysm, familial thoracic 6; Congenital aneurysm of ascending aorta; Multisystemic smooth muscle dysfunction syndrome; Moyamoya disease 5; Moyamoya disease
Aortic aneurysm, familial thoracic 6; Multisystemic smooth muscle dysfunction syndrome; Moyamoya disease 5
Brain aneurysm
Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
Moyamoya disease
Moyamoya disease 1
Moyamoya disease 2
Moyamoya disease 5
Moyamoya disease 7
Moyamoya disease with early-onset achalasia
Mycotic Aneurysm, Intracranial

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001256071.3(RNF213):c.12553A>G (p.Lys4185Glu)	rs1568149971
NM_001256071.3(RNF213):c.12562G>A (p.Ala4188Thr)	rs1568149984

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