ClinVar Miner

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

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_002637.4(PHKA1):c.2606+1G>A	rs373517016	0.00003
NM_002637.4(PHKA1):c.2527-1G>T	rs1556257317	0.00001
NM_002637.4(PHKA1):c.238-2A>T

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