List of variants reported as uncertain significance for Glycogen storage disease, type V by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_005609.4(PYGM):c.645G>A (p.Lys215=)	rs116315896	0.00530
NM_005609.4(PYGM):c.1160G>A (p.Arg387His)	rs200357590	0.00034
NM_005609.4(PYGM):c.2447G>A (p.Arg816His)	rs139230055	0.00010
NM_005609.4(PYGM):c.7C>T (p.Arg3Trp)	rs199565370	0.00010
NM_005609.4(PYGM):c.1766A>G (p.Asn589Ser)	rs140016055	0.00009
NM_005609.4(PYGM):c.2500C>T (p.Arg834Cys)	rs200118962	0.00003
NM_005609.4(PYGM):c.1384G>A (p.Glu462Lys)	rs769805782	0.00002
NM_005609.4(PYGM):c.2054A>G (p.Asn685Ser)	rs765656412	0.00001

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