ClinVar Miner

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

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002072.5(GNAQ):c.143G>T (p.Gly48Val) rs2118276763
NM_002072.5(GNAQ):c.626A>G (p.Gln209Arg) rs121913492
NM_002072.5(GNAQ):c.626A>T (p.Gln209Leu) rs121913492

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