ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NC_000017.11:g.42910914_42911426del
NM_000147.5(FUCA1):c.691G>A (p.Gly231Arg)
NM_000151.4(G6PC1):c.61del (p.Gln20_Val21insTer)
NM_000294.3(PHKG2):c.454C>T (p.Arg152Ter)
NM_000352.6(ABCC8):c.526dup (p.Val176fs)
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)
NM_000642.3(AGL):c.567dup (p.Arg190Ter)
NM_001164278.2(SLC37A4):c.92_94del (p.Phe31del)
NM_001739.2(CA5A):c.580C>T (p.Gln194Ter)

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