List of variants reported as likely pathogenic for lysosomal glycogen storage disease by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)	rs142967546	0.00033
NM_000152.5(GAA):c.1048G>A (p.Val350Met)	rs200412003	0.00007
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys)	rs144016984	0.00003
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys)	rs765362308	0.00002
NM_000152.5(GAA):c.971C>T (p.Pro324Leu)	rs750030887	0.00002
NM_000152.5(GAA):c.1441del (p.Trp481fs)	rs1403500889	0.00001
NM_000152.5(GAA):c.1564C>T (p.Pro522Ser)	rs892129065	0.00001
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp)	rs1393386120	0.00001
NM_000152.5(GAA):c.1943G>A (p.Gly648Asp)	rs1448515860	0.00001
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly)	rs1479740763	0.00001
NM_000152.5(GAA):c.2482-2A>G	rs756671283	0.00001
NM_000152.5(GAA):c.743T>C (p.Leu248Pro)	rs1443844938	0.00001
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu)	rs776008078
NM_000152.5(GAA):c.1280T>C (p.Met427Thr)	rs1555600212
NM_000152.5(GAA):c.1716C>G (p.His572Gln)	rs772962666
NM_000152.5(GAA):c.1748C>T (p.Ser583Phe)	rs2143883845
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp)	rs374470794
NM_000152.5(GAA):c.1841C>T (p.Thr614Met)	rs369531647
NM_000152.5(GAA):c.1905C>G (p.Asn635Lys)
NM_000152.5(GAA):c.1913G>A (p.Gly638Glu)
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs)	rs1567835781
NM_000152.5(GAA):c.1952del (p.Gly651fs)	rs1567835775
NM_000152.5(GAA):c.1978C>G (p.Arg660Gly)
NM_000152.5(GAA):c.2167G>A (p.Val723Met)	rs767247397
NM_000152.5(GAA):c.307T>C (p.Cys103Arg)	rs398123174
NM_000152.5(GAA):c.3G>A (p.Met1Ile)	rs1187796945
NM_000152.5(GAA):c.836G>A (p.Trp279Ter)	rs2039122730
NM_000152.5(GAA):c.858+2T>A	rs1555599713
NM_000152.5(GAA):c.953T>A (p.Met318Lys)	rs121907936
NM_000152.5(GAA):c.956-5_957del

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