ClinVar Miner

List of variants studied for Glycogen storage disease type X by Revvity Omics, Revvity

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter) rs10250779 0.00166
NM_000290.4(PGAM2):c.365C>T (p.Pro122Leu) rs147273213 0.00002
NM_000290.4(PGAM2):c.382G>A (p.Glu128Lys)
NM_000290.4(PGAM2):c.485G>C (p.Arg162Pro)

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