ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_000155.4(GALT):c.1018G>T (p.Glu340Ter) rs111033806
NM_000158.4(GBE1):c.1861CTT[1] (p.Leu622del) rs1576137368
NM_000158.4(GBE1):c.776C>G (p.Ala259Gly) rs1576183525
NM_000202.8(IDS):c.613G>A (p.Ala205Thr) rs864622779
NM_000308.3(CTSA):c.799T>A (p.Tyr267Asn) rs137854544
NM_000308.3(CTSA):c.887_888del (p.Tyr296fs) rs875989777
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter) rs201337954

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