ClinVar Miner

List of variants studied for Glycogen storage disease IXb by 3billion

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000293.3(PHKB):c.1127-2A>G rs535749057 0.00012
NM_000293.3(PHKB):c.2014C>T (p.Arg672Ter) rs1273669177 0.00001
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter) rs34667348

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