ClinVar Miner

List of variants in gene SI reported as pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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NM_001041.4(SI):c.1022T>C (p.Leu341Pro) rs267607049
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615
NM_001041.4(SI):c.1859T>C (p.Leu620Pro) rs121912613
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616
NM_001041.4(SI):c.3293A>C (p.Gln1098Pro) rs121912611
NM_001041.4(SI):c.350A>G (p.Gln117Arg) rs121912612
NM_001041.4(SI):c.3686G>A (p.Cys1229Tyr) rs121912614
NM_001041.4(SI):c.5234T>G (p.Phe1745Cys) rs79717168

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