ClinVar Miner

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

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_000116.5(TAZ):c.153C>G (p.Tyr51Ter) rs104894941
NM_000116.5(TAZ):c.239-1G>A
NM_000116.5(TAZ):c.239-1G>C
NM_000116.5(TAZ):c.280C>A (p.Arg94Ser) rs104894942
NM_000116.5(TAZ):c.281G>A (p.Arg94His)
NM_000116.5(TAZ):c.281G>T (p.Arg94Leu) rs1060500044
NM_000116.5(TAZ):c.284+110G>A
NM_000116.5(TAZ):c.310T>C (p.Phe104Leu) rs397515741
NM_000116.5(TAZ):c.352T>C (p.Cys118Arg) rs104894937
NM_000116.5(TAZ):c.367C>T (p.Arg123Ter) rs1569552731
NM_000116.5(TAZ):c.370G>T (p.Gly124Ter)
NM_000116.5(TAZ):c.589G>A (p.Gly197Arg) rs132630277
NM_000116.5(TAZ):c.605_608del (p.Glu202fs)
NM_000116.5(TAZ):c.646G>A (p.Gly216Arg) rs1085307797
NM_000116.5(TAZ):c.647-1G>C rs587776741
NM_000116.5(TAZ):c.697C>T (p.Gln233Ter)
NM_000116.5(TAZ):c.700-1G>A rs397515747
NM_000116.5(TAZ):c.708_709TG[1] (p.Val237fs) rs727504394
NM_000116.5(TAZ):c.718G>A (p.Gly240Arg) rs387907218
TAZ, 1-BP DEL
TAZ, 1-BP INS, NT868
TAZ, IVS1DS, G-C, +5

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