List of variants reported as likely pathogenic for carbohydrate metabolism disease by Centogene AG - the Rare Disease Company

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NC_000017.11:g.42910915_42911427del	rs2056090806
NM_000147.5(FUCA1):c.691G>A (p.Gly231Arg)	rs1639470403
NM_000151.4(G6PC1):c.61del (p.Gln20_Val21insTer)	rs2056021430
NM_000294.3(PHKG2):c.454C>T (p.Arg152Ter)	rs772912966
NM_000352.6(ABCC8):c.526dup (p.Val176fs)	rs1847952281
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)	rs137852314
NM_000512.5(GALNS):c.423-862C>T	rs1597575641
NM_000528.4(MAN2B1):c.2356-2A>G	rs1064793936
NM_000642.3(AGL):c.2399dup (p.Asp801fs)	rs1652268068
NM_000642.3(AGL):c.567dup (p.Arg190Ter)	rs1650334882
NM_001164277.2(SLC37A4):c.92_94del (p.Phe31del)	rs1432360280
NM_001739.2(CA5A):c.580C>T (p.Gln194Ter)	rs2055884613
NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter)	rs1223645705
NM_003384.3(VRK1):c.706G>A (p.Val236Met)	rs771364038

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