List of variants reported as likely pathogenic for carbohydrate metabolism disease by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 16

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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.1552-3C>G	rs375470378	0.00008
NM_000289.6(PFKM):c.237+1G>A	rs202143236	0.00006
NM_000155.4(GALT):c.241G>C (p.Ala81Pro)	rs111033665	0.00001
NM_000155.4(GALT):c.752A>C (p.Tyr251Ser)	rs111033755	0.00001
NM_000155.4(GALT):c.961C>T (p.His321Tyr)	rs367543266	0.00001
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr)	rs397507175	0.00001
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)	rs397514382	0.00001
NM_000152.5(GAA):c.1438-1G>T	rs147804176
NM_000152.5(GAA):c.1841C>T (p.Thr614Met)	rs369531647
NM_000155.4(GALT):c.133T>C (p.Ser45Pro)	rs2132341560
NM_000155.4(GALT):c.290A>T (p.Asn97Ile)	rs111033669
NM_000155.4(GALT):c.394C>T (p.His132Tyr)	rs111033688
NM_000155.4(GALT):c.617A>G (p.Gln206Arg)	rs1587239309
NM_000155.4(GALT):c.752_753delinsCT (p.Tyr251Ser)	rs886043390
NM_006618.5(KDM5B):c.2265C>G (p.Tyr755Ter)

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