ClinVar Miner

List of variants in gene GNAQ studied for Sturge-Weber syndrome

Included ClinVar conditions (2):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_002072.5(GNAQ):c.143G>T (p.Gly48Val)	rs2118276763
NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln)	rs397514698
NM_002072.5(GNAQ):c.626A>G (p.Gln209Arg)	rs121913492
NM_002072.5(GNAQ):c.626A>T (p.Gln209Leu)	rs121913492

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