ClinVar Miner

List of variants studied for Glycogen storage disease IXc by Fulgent Genetics, Fulgent Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000294.3(PHKG2):c.920G>A (p.Arg307Gln)	rs145390070	0.00025
NM_000294.3(PHKG2):c.127C>T (p.His43Tyr)	rs202177461	0.00022
NM_000294.3(PHKG2):c.227G>A (p.Arg76Gln)	rs138299462	0.00004

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