ClinVar Miner

List of variants studied for Glycogen storage disease IXc by Baylor Genetics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000294.3(PHKG2):c.393G>A (p.Arg131=) rs55751949 0.00153
NM_000294.3(PHKG2):c.127C>T (p.His43Tyr) rs202177461 0.00022
NM_000294.3(PHKG2):c.985C>T (p.Arg329Trp) rs367711698 0.00007
NM_000294.3(PHKG2):c.212G>A (p.Arg71Gln)
NM_000294.3(PHKG2):c.646C>A (p.Leu216Ile) rs2053424230
NM_000294.3(PHKG2):c.927+13G>A rs371298131

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