ClinVar Miner

List of variants studied for Deficiency of transaldolase by Baylor Genetics

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_006755.2(TALDO1):c.181C>G (p.Leu61Val) rs149640294 0.00051
NM_006755.2(TALDO1):c.982G>A (p.Glu328Lys) rs369679261 0.00016
NM_006755.2(TALDO1):c.293A>T (p.Lys98Met) rs758756190 0.00001
NM_006755.2(TALDO1):c.574C>T (p.Arg192Cys) rs751425603 0.00001
NM_006755.2(TALDO1):c.330-10_330delinsAGA rs796249314
NM_006755.2(TALDO1):c.793del (p.Gln265fs) rs727502867
NM_006755.2(TALDO1):c.888G>A (p.Trp296Ter) rs1863010811

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