List of variants reported as pathogenic for carbohydrate metabolism disease by Breda Genetics srl

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000152.5(GAA):c.-32-13T>G	rs386834236	0.00384
NM_000155.4(GALT):c.855G>T (p.Lys285Asn)	rs111033773	0.00017
NM_001160372.4(TRAPPC9):c.1129C>T (p.Arg377Ter)	rs267607136	0.00001
NM_000155.2(GALT):c.-119_-116delGTCA	rs111033640

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