ClinVar Miner

List of variants studied for Moyamoya disease by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (9):

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
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

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

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_001256071.3(RNF213):c.12059G>T (p.Cys4020Phe)	rs1599150380

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