List of variants studied for carbohydrate metabolism disease by Breda Genetics srl

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Total variants: 14

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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_020066.5(FMN2):c.4123C>A (p.Leu1375Ile)	rs146873580	0.00010
NM_000152.5(GAA):c.2189+1G>T	rs1209887739	0.00001
NM_001160372.4(TRAPPC9):c.1129C>T (p.Arg377Ter)	rs267607136	0.00001
NM_014806.5(RUSC2):c.2626G>A (p.Glu876Lys)	rs1486315197	0.00001
NM_025083.5(EDC3):c.778C>T (p.Arg260Trp)	rs748142645	0.00001
NM_000152.5(GAA):c.2452C>T (p.Leu818Phe)
NM_000155.2(GALT):c.-119_-116delGTCA	rs111033640
NM_000284.4(PDHA1):c.1033_1035dup (p.Glu345_Ile346insGlu)
NM_005645.4(TAF13):c.204+1G>T	rs2102105455
NM_005908.4(MANBA):c.545G>A (p.Arg182Gln)	rs759103361
NM_014168.4(METTL5):c.43C>T (p.Gln15Ter)	rs1247557050
NM_017755.6(NSUN2):c.340G>A (p.Val114Ile)	rs2126513553

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