List of variants reported as likely pathogenic for carbohydrate metabolism disease by Division of Human Genetics, Children's Hospital of Philadelphia

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)	rs116135678	0.00074
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln)	rs145078268	0.00013
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter)	rs267606640	0.00006
NM_000404.4(GLB1):c.245+1G>A	rs778423653	0.00001
NM_000642.3(AGL):c.664+3A>G	rs370792293	0.00001
NM_012434.5(SLC17A5):c.409del (p.Met137fs)	rs794729653

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