ClinVar Miner

List of variants reported as pathogenic for Moyamoya disease by University of Washington Center for Mendelian Genomics, University of Washington

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)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001130682.3(GUCY1A1):c.1258C>T (p.Arg420Ter)	rs373182378	0.00001
NM_001130682.3(GUCY1A1):c.1550G>A (p.Cys517Tyr)	rs751701114
NM_001130682.3(GUCY1A1):c.334_335del (p.Glu112fs)	rs781020381

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