ClinVar Miner

List of variants reported as benign for Glycogen storage disease type X by Invitae

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000290.4(PGAM2):c.324G>A (p.Gly108=) rs112828964 0.02943
NM_000290.4(PGAM2):c.341T>G (p.Ile114Ser) rs61756062 0.02444
NM_000290.4(PGAM2):c.216C>T (p.Asp72=) rs111656877 0.01481
NM_000290.4(PGAM2):c.366G>A (p.Pro122=) rs143830182 0.00529
NM_000290.4(PGAM2):c.375G>A (p.Pro125=) rs145985559 0.00382
NM_000290.4(PGAM2):c.726C>T (p.Ala242=) rs142209394 0.00118
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp) rs77938727 0.00026
NM_001014436.3(DBNL):c.*2017A>G rs367994618 0.00005

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