ClinVar Miner

List of variants in gene TAZ studied for 3-methylglutaconic aciduria

Included ClinVar conditions (11):
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Gene type:
ClinVar version:
Total variants: 61
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HGVS dbSNP
NM_000116.3(TAZ):c.460+1G>A rs878853655
NM_000116.4(TAZ):c.*387C>T rs1057515819
NM_000116.4(TAZ):c.*396C>T rs144283894
NM_000116.4(TAZ):c.*470C= rs743547
NM_000116.4(TAZ):c.*560G>A rs782808430
NM_000116.4(TAZ):c.153C>G (p.Tyr51Ter) rs104894941
NM_000116.4(TAZ):c.208C>T (p.Gln70Ter) rs397515738
NM_000116.4(TAZ):c.227C>G (p.Pro76Arg) rs878853654
NM_000116.4(TAZ):c.238G>A (p.Gly80Arg) rs1557191170
NM_000116.4(TAZ):c.280C>A (p.Arg94Ser) rs104894942
NM_000116.4(TAZ):c.281G>T (p.Arg94Leu) rs1060500044
NM_000116.4(TAZ):c.299C>T (p.Ala100Val)
NM_000116.4(TAZ):c.307T>C (p.Cys103Arg) rs397515740
NM_000116.4(TAZ):c.310T>C (p.Phe104Leu) rs397515741
NM_000116.4(TAZ):c.328T>C (p.Ser110Pro) rs397515739
NM_000116.4(TAZ):c.331C>T (p.His111Tyr) rs200405157
NM_000116.4(TAZ):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.4(TAZ):c.352T>C (p.Cys118Arg) rs104894937
NM_000116.4(TAZ):c.383T>C (p.Phe128Ser) rs146934311
NM_000116.4(TAZ):c.504G>A (p.Lys168=) rs1057515818
NM_000116.4(TAZ):c.535C>G (p.Pro179Ala) rs397515744
NM_000116.4(TAZ):c.542-20C>T rs373841640
NM_000116.4(TAZ):c.542-3C>G rs781795144
NM_000116.4(TAZ):c.543G>A (p.Gly181=) rs782471244
NM_000116.4(TAZ):c.583G>A (p.Gly195Arg) rs878853656
NM_000116.4(TAZ):c.584-7delT rs782192927
NM_000116.4(TAZ):c.589G>A (p.Gly197Arg) rs132630277
NM_000116.4(TAZ):c.590G>A (p.Gly197Glu) rs397515746
NM_000116.4(TAZ):c.594C>T (p.Arg198=) rs797040235
NM_000116.4(TAZ):c.606G>C (p.Glu202Asp)
NM_000116.4(TAZ):c.628C>T (p.Leu210=) rs782162647
NM_000116.4(TAZ):c.647-1G>C rs587776741
NM_000116.4(TAZ):c.647G>T (p.Gly216Val) rs727504431
NM_000116.4(TAZ):c.657C>T (p.Asp219=) rs140751478
NM_000116.4(TAZ):c.660C>T (p.Val220=) rs372610945
NM_000116.4(TAZ):c.675G>A (p.Pro225=) rs201046790
NM_000116.4(TAZ):c.700-1G>A rs397515747
NM_000116.4(TAZ):c.710_711del (p.Val237Alafs) rs727504394
NM_000116.4(TAZ):c.718G>A (p.Gly240Arg) rs387907218
NM_000116.4(TAZ):c.718G>C (p.Gly240Arg) rs387907218
NM_000116.4(TAZ):c.747C>T (p.Leu249=) rs376379156
NM_000116.4(TAZ):c.751C>T (p.Arg251Trp) rs372689133
NM_000116.4(TAZ):c.754_763delCTCCGGGCGG (p.Leu252Argfs) rs1557194381
NM_000116.4(TAZ):c.758G>A (p.Arg253Gln) rs782653725
NM_000116.4(TAZ):c.768C>G (p.Asn256Lys) rs926124671
NM_000116.4(TAZ):c.774G>A (p.Ser258=) rs782273950
NM_000116.4(TAZ):c.777+6T>C
NM_000116.4(TAZ):c.801G>A (p.Thr267=) rs781792950
NM_000116.4(TAZ):c.823C>T (p.Gln275Ter) rs397515750
NM_000116.4(TAZ):c.873G>A (p.Gly291=) rs35902788
NM_001303465.1(TAZ):c.421C>T (p.Arg141Ter)
NM_181312.3(TAZ):c.794delC (p.Thr265Ilefs) rs1557194525
NM_181313.3(TAZ):c.658A>G (p.Lys220Glu) rs1557194488
TAZ, 1-BP DEL
TAZ, 1-BP INS, NT868
TAZ, 4-BP DEL, AGTG
TAZ, IVS1AS, A-G, -2
TAZ, IVS1DS, G-C, +5
TAZ, IVS2AS, G-A, -1
TAZ, IVS2AS, G-C, -1
TAZ, IVS3DS, G-A, +110

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