ClinVar Miner

List of variants reported as pathogenic for Sturge-Weber syndrome by Clinical Genomics Laboratory, Washington University in St. Louis

Included ClinVar conditions (2):

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_002072.5(GNAQ):c.626A>G (p.Gln209Arg)	rs121913492
NM_002072.5(GNAQ):c.626A>T (p.Gln209Leu)	rs121913492

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