ClinVar Miner

List of variants in gene TALDO1 studied for Deficiency of transaldolase

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_006755.2(TALDO1):c.*9T>C rs7939103 0.01931
NM_006755.1(TALDO1):c.*192G>A rs7933290 0.01926
NM_006755.2(TALDO1):c.962A>G (p.Lys321Arg) rs11302 0.01176
NM_006755.2(TALDO1):c.801C>T (p.Asn267=) rs142263629 0.00483
NM_006755.1(TALDO1):c.-30C>T rs373293125 0.00103
NM_006755.2(TALDO1):c.36G>A (p.Glu12=) rs150420496 0.00091
NM_006755.2(TALDO1):c.181C>G (p.Leu61Val) rs149640294 0.00051
NM_006755.2(TALDO1):c.68C>G (p.Thr23Ser) rs144787855 0.00048
NM_006755.2(TALDO1):c.461+14C>T rs373077928 0.00034
NM_006755.2(TALDO1):c.*30C>T rs200971004 0.00029
NM_006755.2(TALDO1):c.930C>T (p.Asp310=) rs181385165 0.00022
NM_006755.2(TALDO1):c.197T>C (p.Ile66Thr) rs146282855 0.00016
NM_006755.2(TALDO1):c.982G>A (p.Glu328Lys) rs369679261 0.00016
NM_006755.2(TALDO1):c.-6C>T rs762014857 0.00008
NM_006755.2(TALDO1):c.971G>A (p.Arg324Gln) rs186015859 0.00007
NM_006755.2(TALDO1):c.*12G>A rs369845141 0.00006
NM_006755.2(TALDO1):c.726C>T (p.Gly242=) rs764708645 0.00004
NM_006755.2(TALDO1):c.*33C>T rs375388046 0.00003
NM_006755.2(TALDO1):c.706G>A (p.Ala236Thr) rs375231328 0.00003
NM_006755.1(TALDO1):c.-37T>C rs886048655 0.00001
NM_006755.2(TALDO1):c.293A>T (p.Lys98Met) rs758756190 0.00001
NM_006755.2(TALDO1):c.402C>T (p.Ile134=) rs886048663 0.00001
NM_006755.2(TALDO1):c.48C>T (p.Asp16=) rs886048658 0.00001
NM_006755.2(TALDO1):c.871G>A (p.Glu291Lys) rs567606097 0.00001
NM_006755.1(TALDO1):c.-30_-19del rs71464113
NM_006755.1(TALDO1):c.-36_-34CGC[7] rs71464113
NM_006755.2(TALDO1):c.330-10_330delinsAGA rs796249314
NM_006755.2(TALDO1):c.356T>C (p.Val119Ala) rs1862905275
NM_006755.2(TALDO1):c.409G>T (p.Asp137Tyr) rs376434268
NM_006755.2(TALDO1):c.695_696del (p.Ile232fs)
NM_006755.2(TALDO1):c.715C>G (p.Arg239Gly) rs201836196
NM_006755.2(TALDO1):c.784G>C (p.Glu262Gln) rs1863002079
NM_006755.2(TALDO1):c.78C>G (p.Ala26=) rs886048659
NM_006755.2(TALDO1):c.793del (p.Gln265fs) rs727502867
NM_006755.2(TALDO1):c.884G>A (p.Arg295His) rs1564994861
NM_006755.2(TALDO1):c.888G>A (p.Trp296Ter) rs1863010811
NM_006755.2(TALDO1):c.931G>T (p.Gly311Trp) rs753787975
NM_006755.2(TALDO1):c.952G>A (p.Asp318Asn) rs866261597
NM_006755.2(TALDO1):c.956C>T (p.Ala319Val) rs1863012392
NM_006755.2(TALDO1):c.982-8_982-5del rs773135701

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