ClinVar Miner

List of variants reported as likely pathogenic for Glycogen storage disease IXc by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000294.3(PHKG2):c.643G>A (p.Asp215Asn)	rs767427889	0.00001
NM_000294.3(PHKG2):c.392+2T>G
NM_000294.3(PHKG2):c.393-2A>G
NM_000294.3(PHKG2):c.800_801+34del	rs2151310413

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