ClinVar Miner

List of variants studied for Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000158.4(GBE1):c.143+1G>A	rs397515343
NM_000158.4(GBE1):c.1634A>G (p.His545Arg)	rs137852889

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