ClinVar Miner

List of variants reported as benign for carbohydrate metabolism disease by Mendelics

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_000027.4(AGA):c.446C>G (p.Thr149Ser) rs2228119
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448
NM_000108.5(DLD):c.439-7T>C rs10263341
NM_000152.5(GAA):c.1327-18A>G rs2278619
NM_000154.2(GALK1):c.-22T>C rs545362817
NM_000155.4(GALT):c.378-27G>C rs41274865
NM_000155.4(GALT):c.508-24G>A rs41274867
NM_000155.4(GALT):c.864C>T (p.Asn288=) rs372134800
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000158.4(GBE1):c.568A>G (p.Arg190Gly) rs2229519
NM_000202.8(IDS):c.925A>G (p.Thr309Ala) rs145807417
NM_000203.5(IDUA):c.245A>C (p.His82Pro) rs794727239
NM_000203.5(IDUA):c.299+6C>T rs147498923
NM_000340.2(SLC2A2):c.329C>T (p.Thr110Ile) rs5400
NM_000512.5(GALNS):c.120+1532G>C rs34150867
NM_000512.5(GALNS):c.1462G>A (p.Val488Met) rs78127134
NM_002591.4(PCK1):c.550G>C (p.Val184Leu) rs707555
NM_004563.4(PCK2):c.362= (p.Pro121=)
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val) rs113806080
NM_021957.4(GYS2):c.1087A>G (p.Met363Val) rs2306180
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln) rs727503962
NM_184043.2(ALDOA):c.999+17G>T rs2071390

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