ClinVar Miner

List of variants in gene TAZ reported as likely pathogenic for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_000116.5(TAZ):c.208C>T (p.Gln70Ter) rs397515738
NM_000116.5(TAZ):c.227C>G (p.Pro76Arg) rs878853654
NM_000116.5(TAZ):c.238+2_238+9del
NM_000116.5(TAZ):c.307T>C (p.Cys103Arg) rs397515740
NM_000116.5(TAZ):c.328T>C (p.Ser110Pro) rs397515739
NM_000116.5(TAZ):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAZ):c.542-3C>G rs781795144
NM_000116.5(TAZ):c.590G>A (p.Gly197Glu) rs397515746
NM_000116.5(TAZ):c.647G>T (p.Gly216Val) rs727504431
NM_000116.5(TAZ):c.790A>G (p.Lys264Glu) rs1557194488
NM_000116.5(TAZ):c.836del (p.Thr279fs) rs1557194525

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