List of variants studied for Glycogen storage disease, type IV by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000158.4(GBE1):c.691+2T>C	rs192044702	0.00078
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter)	rs137852888	0.00006
NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln)	rs80338673	0.00003
NM_000158.4(GBE1):c.708G>C (p.Gln236His)	rs137852892	0.00003
NM_000158.4(GBE1):c.1621A>G (p.Asn541Asp)	rs1703086906	0.00001
NM_000158.4(GBE1):c.1883A>G (p.His628Arg)	rs137852891	0.00001
NM_000158.4(GBE1):c.2052+2T>C	rs375596642	0.00001
NC_000003.11:g.(?_81538849)_(81539615_81548260)del
NM_000158.4(GBE1):c.1245_1258del (p.Gly416fs)	rs1703800818
NM_000158.4(GBE1):c.1336-1G>A	rs375253942
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys)	rs80338672
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser)	rs80338671

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