ClinVar Miner

List of variants in gene TALDO1 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: 7
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HGVS dbSNP
NM_006755.1(TALDO1):c.516dupC rs797045110
NM_006755.2(TALDO1):c.512_514del (p.Ser171del) rs137853085
NM_006755.2(TALDO1):c.574C>T (p.Arg192Cys) rs751425603
NM_006755.2(TALDO1):c.669C>G (p.Tyr223Ter)
NM_006755.2(TALDO1):c.715C>G (p.Arg239Gly) rs201836196
NM_006755.2(TALDO1):c.793del (p.Gln265fs) rs727502867
NM_006755.2(TALDO1):c.931G>T (p.Gly311Trp) rs753787975

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