ClinVar Miner

List of variants reported as 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: 30
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HGVS dbSNP
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro) rs180177195
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp) rs76917243
NM_000046.5(ARSB):c.264G>T (p.Gln88His)
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324
NM_000155.4(GALT):c.377+1G>T rs111033681
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579
NM_000203.5(IDUA):c.1190-10_*10del
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529
NM_000294.3(PHKG2):c.553C>T (p.Arg185Ter) rs1270523244
NM_000343.4(SLC5A1):c.187C>T (p.Arg63Ter)
NM_000507.4(FBP1):c.472C>T (p.Arg158Trp) rs766005419
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg) rs780803192
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) rs566453434
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp) rs267606838
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr) rs760300454
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu)
NM_000512.5(GALNS):c.498C>G (p.His166Gln)
NM_000528.4(MAN2B1):c.1644+4A>G
NM_000642.3(AGL):c.100C>T (p.Arg34Ter) rs781580050
NM_000642.3(AGL):c.1078C>T (p.His360Tyr) rs763554006
NM_000642.3(AGL):c.1497_1500dup (p.Asp501fs)
NM_000642.3(AGL):c.753_756del (p.Asp251fs) rs748789700
NM_001164278.2(SLC37A4):c.169_175del (p.Ser57fs) rs782501672
NM_001164278.2(SLC37A4):c.936dup (p.Val313fs) rs782172072
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.1448_1452del (p.Gly483fs) rs398123138
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684

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