ClinVar Miner

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

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_000116.5(TAZ):c.*396C>T rs144283894
NM_000116.5(TAZ):c.*560G>A rs782808430
NM_000116.5(TAZ):c.383T>C (p.Phe128Ser) rs146934311
NM_000116.5(TAZ):c.504G>A (p.Lys168=) rs1057515818
NM_000116.5(TAZ):c.542-20C>T rs373841640
NM_000116.5(TAZ):c.543G>A (p.Gly181=) rs782471244
NM_000116.5(TAZ):c.584-7del rs782192927
NM_000116.5(TAZ):c.594C>T (p.Arg198=) rs797040235
NM_000116.5(TAZ):c.628C>T (p.Leu210=) rs782162647
NM_000116.5(TAZ):c.657C>T (p.Asp219=) rs140751478
NM_000116.5(TAZ):c.660C>T (p.Val220=) rs372610945
NM_000116.5(TAZ):c.675G>A (p.Pro225=) rs201046790
NM_000116.5(TAZ):c.747C>T (p.Leu249=) rs376379156
NM_000116.5(TAZ):c.774G>A (p.Ser258=) rs782273950
NM_000116.5(TAZ):c.801G>A (p.Thr267=) rs781792950
NM_000116.5(TAZ):c.873G>A (p.Gly291=) rs35902788

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