ClinVar Miner

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

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NM_000116.5(TAZ):c.*387C>T rs1057515819
NM_000116.5(TAZ):c.238+6C>T
NM_000116.5(TAZ):c.238G>A (p.Gly80Arg) rs1557191170
NM_000116.5(TAZ):c.284+4A>T
NM_000116.5(TAZ):c.299C>T (p.Ala100Val) rs1569552722
NM_000116.5(TAZ):c.331C>T (p.His111Tyr) rs200405157
NM_000116.5(TAZ):c.416A>T (p.Asp139Val)
NM_000116.5(TAZ):c.460+1G>A rs878853655
NM_000116.5(TAZ):c.469G>A (p.Val157Ile)
NM_000116.5(TAZ):c.504G>A (p.Lys168=) rs1057515818
NM_000116.5(TAZ):c.535C>G (p.Pro179Ala) rs397515744
NM_000116.5(TAZ):c.562G>A (p.Glu188Lys)
NM_000116.5(TAZ):c.576C>G (p.Phe192Leu)
NM_000116.5(TAZ):c.583G>A (p.Gly195Arg) rs878853656
NM_000116.5(TAZ):c.606G>C (p.Glu202Asp)
NM_000116.5(TAZ):c.647G>A (p.Gly216Glu)
NM_000116.5(TAZ):c.674C>T (p.Pro225Leu) rs375151766
NM_000116.5(TAZ):c.689G>A (p.Arg230His)
NM_000116.5(TAZ):c.751C>T (p.Arg251Trp) rs372689133
NM_000116.5(TAZ):c.754_763del (p.Leu252fs) rs1557194381
NM_000116.5(TAZ):c.758G>A (p.Arg253Gln) rs782653725
NM_000116.5(TAZ):c.763G>A (p.Glu255Lys) rs782498694
NM_000116.5(TAZ):c.768C>G (p.Asn256Lys) rs926124671
NM_000116.5(TAZ):c.777+6T>C
NM_000116.5(TAZ):c.790A>G (p.Lys264Glu) rs1557194488

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