List of variants reported as benign for Glycogen storage disease, type II by ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000152.5(GAA):c.324T>C (p.Cys108=)	rs1800300	0.71989
NM_000152.5(GAA):c.2338G>A (p.Val780Ile)	rs1126690	0.71839
NM_000152.5(GAA):c.547-4C>G	rs3816256	0.65665
NM_000152.5(GAA):c.668G>A (p.Arg223His)	rs1042395	0.65662
NM_000152.5(GAA):c.1203G>A (p.Gln401=)	rs1800304	0.65453
NM_000152.5(GAA):c.2553G>A (p.Gly851=)	rs1042397	0.57872
NM_000152.5(GAA):c.921A>T (p.Ala307=)	rs1800303	0.11304
NM_000152.5(GAA):c.2446G>A (p.Val816Ile)	rs1800314	0.05752
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile)	rs1800315	0.04402
NM_000152.5(GAA):c.2400C>T (p.Ser800=)	rs115705591	0.00724
NM_000152.5(GAA):c.852G>A (p.Ala284=)	rs142626724	0.00638
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg)	rs200294882	0.00026
NM_000152.5(GAA):c.2668G>C (p.Val890Leu)	rs377286472	0.00002
NM_000152.5(GAA):c.858+17_858+23del	rs1555599723
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC	rs3071247

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