ClinVar Miner

List of variants reported as likely benign for Glycogen storage disease, type V by Genome-Nilou Lab

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val)	rs139570786	0.00232
NM_005609.4(PYGM):c.924C>T (p.Ile308=)	rs139726186	0.00175
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser)	rs114468011	0.00081

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