ClinVar Miner

List of variants reported as pathogenic for carbohydrate metabolism disease by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943
NM_000152.5(GAA):c.896T>C (p.Leu299Pro) rs121907940
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys) rs529855742
NM_000199.5(SGSH):c.578T>C (p.Phe193Ser) rs1555621662
NM_000199.5(SGSH):c.763del (p.Gln255fs) rs1555620827
NM_000199.5(SGSH):c.89-2A>G rs1369704445
NM_000202.8(IDS):c.1099A>T (p.Thr367Ser) rs1557338131
NM_000202.8(IDS):c.196C>T (p.Gln66Ter) rs1557340403
NM_000202.8(IDS):c.473ATC[1] (p.His159del) rs1557339887
NM_000203.5(IDUA):c.1029C>A (p.Tyr343Ter) rs764196171
NM_000203.5(IDUA):c.612_615dup (p.Ser206fs) rs875989947
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp) rs104894596
NM_000263.4(NAGLU):c.1944dup (p.Trp649fs) rs886039895
NM_000263.4(NAGLU):c.480del (p.Asn160fs) rs886039894
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595
NM_000284.4(PDHA1):c.1133G>A (p.Arg378His) rs137853250
NM_000298.6(PKLR):c.331G>A (p.Gly111Arg) rs918627824
NM_000340.2(SLC2A2):c.1043dup (p.Asn349fs) rs1553785722
NM_000340.2(SLC2A2):c.613-1G>C rs1553786361
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys) rs28938469
NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter) rs72555372
NM_000404.4(GLB1):c.443G>A (p.Arg148His) rs745864233
NM_000507.4(FBP1):c.841G>T (p.Glu281Ter) rs566453434
NM_000512.5(GALNS):c.542A>G (p.Tyr181Cys) rs786205899
NM_000512.5(GALNS):c.952A>G (p.Met318Val) rs537013895
NM_000642.3(AGL):c.4221dup (p.Leu1408fs) rs786204655
NM_002863.5(PYGL):c.298_307del (p.Met100fs) rs1555328280
NM_004563.4(PCK2):c.577C>T (p.Arg193Ter) rs753706965
NM_152419.3(HGSNAT):c.1048C>T (p.Gln350Ter) rs752939204
NM_152419.3(HGSNAT):c.1345dup (p.Asp449fs) rs483352894

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