ClinVar Miner

List of variants reported as benign for Moyamoya disease

Included ClinVar conditions (9):

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_001130682.3(GUCY1A1):c.1074A>G (p.Lys358=)	rs11944673	0.97422
NM_001256071.3(RNF213):c.14194A>G (p.Lys4732Glu)	rs12944385	0.00750
NM_001256071.3(RNF213):c.12942+97del	rs142169239

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