ClinVar Miner

List of variants in gene TAFAZZIN studied for classic organic aciduria

Included ClinVar conditions (39):
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Gene type:
ClinVar version:
Total variants: 143
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HGVS dbSNP
NC_000023.10:g.(?_153647872)_(153650075_?)del
NM_000116.5(TAFAZZIN):c.*165T>A
NM_000116.5(TAFAZZIN):c.*33G>A
NM_000116.5(TAFAZZIN):c.*387C>T rs1057515819
NM_000116.5(TAFAZZIN):c.*396C>T rs144283894
NM_000116.5(TAFAZZIN):c.*470= rs743547
NM_000116.5(TAFAZZIN):c.*560G>A rs782808430
NM_000116.5(TAFAZZIN):c.*618A>G
NM_000116.5(TAFAZZIN):c.*648A>C
NM_000116.5(TAFAZZIN):c.129del (p.Val44fs)
NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter) rs104894941
NM_000116.5(TAFAZZIN):c.154G>A (p.Glu52Lys) rs794729166
NM_000116.5(TAFAZZIN):c.184C>T (p.Pro62Ser)
NM_000116.5(TAFAZZIN):c.190A>C (p.Ile64Leu)
NM_000116.5(TAFAZZIN):c.198G>A (p.Val66=)
NM_000116.5(TAFAZZIN):c.205C>A (p.His69Asn)
NM_000116.5(TAFAZZIN):c.208C>T (p.Gln70Ter) rs397515738
NM_000116.5(TAFAZZIN):c.210G>C (p.Gln70His)
NM_000116.5(TAFAZZIN):c.212C>T (p.Ser71Phe)
NM_000116.5(TAFAZZIN):c.216C>T (p.Cys72=) rs1557191148
NM_000116.5(TAFAZZIN):c.227C>G (p.Pro76Arg) rs878853654
NM_000116.5(TAFAZZIN):c.227C>T (p.Pro76Leu)
NM_000116.5(TAFAZZIN):c.236_238+5del
NM_000116.5(TAFAZZIN):c.238+2_238+9del rs1603376938
NM_000116.5(TAFAZZIN):c.238+6C>T rs781786197
NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg) rs1557191170
NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg) rs1557191170
NM_000116.5(TAFAZZIN):c.239-1G>A rs1603377590
NM_000116.5(TAFAZZIN):c.239-1G>C rs1603377590
NM_000116.5(TAFAZZIN):c.239-7C>T
NM_000116.5(TAFAZZIN):c.253C>T (p.Arg85Cys)
NM_000116.5(TAFAZZIN):c.270G>A (p.Leu90=)
NM_000116.5(TAFAZZIN):c.280C>A (p.Arg94Ser) rs104894942
NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His) rs1060500044
NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu) rs1060500044
NM_000116.5(TAFAZZIN):c.284+110G>A rs1603377747
NM_000116.5(TAFAZZIN):c.284+4A>T rs1603377638
NM_000116.5(TAFAZZIN):c.293_294insTTAGGACCCC (p.Ala99_Ala100insTer)
NM_000116.5(TAFAZZIN):c.294A>T (p.Ala98=)
NM_000116.5(TAFAZZIN):c.299C>T (p.Ala100Val) rs1569552722
NM_000116.5(TAFAZZIN):c.307T>C (p.Cys103Arg) rs397515740
NM_000116.5(TAFAZZIN):c.310T>C (p.Phe104Leu) rs397515741
NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro) rs397515739
NM_000116.5(TAFAZZIN):c.331C>T (p.His111Tyr) rs200405157
NM_000116.5(TAFAZZIN):c.334T>C (p.Phe112Leu)
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.351G>A (p.Lys117=)
NM_000116.5(TAFAZZIN):c.352T>C (p.Cys118Arg) rs104894937
NM_000116.5(TAFAZZIN):c.367C>T (p.Arg123Ter) rs1569552731
NM_000116.5(TAFAZZIN):c.370G>T (p.Gly124Ter) rs1603377945
NM_000116.5(TAFAZZIN):c.371-6C>A rs782195445
NM_000116.5(TAFAZZIN):c.380T>G (p.Phe127Cys)
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311
NM_000116.5(TAFAZZIN):c.403A>G (p.Lys135Glu)
NM_000116.5(TAFAZZIN):c.409G>A (p.Val137Ile)
NM_000116.5(TAFAZZIN):c.416A>T (p.Asp139Val) rs1603378339
NM_000116.5(TAFAZZIN):c.419C>T (p.Thr140Ile) rs727503454
NM_000116.5(TAFAZZIN):c.425_428del (p.Arg142fs) rs782253789
NM_000116.5(TAFAZZIN):c.430A>G (p.Met144Val)
NM_000116.5(TAFAZZIN):c.437G>T (p.Gly146Val)
NM_000116.5(TAFAZZIN):c.460+1G>A rs878853655
NM_000116.5(TAFAZZIN):c.460+5G>A
NM_000116.5(TAFAZZIN):c.460G>A (p.Gly154Arg)
NM_000116.5(TAFAZZIN):c.465T>C (p.Asp155=) rs1603381303
NM_000116.5(TAFAZZIN):c.468C>T (p.Gly156=)
NM_000116.5(TAFAZZIN):c.469G>A (p.Val157Ile) rs782173851
NM_000116.5(TAFAZZIN):c.483G>A (p.Gly161=)
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=) rs1057515818
NM_000116.5(TAFAZZIN):c.507C>T (p.Leu169=)
NM_000116.5(TAFAZZIN):c.528_541+7del
NM_000116.5(TAFAZZIN):c.535C>G (p.Pro179Ala) rs397515744
NM_000116.5(TAFAZZIN):c.541+10G>A
NM_000116.5(TAFAZZIN):c.541+5G>A
NM_000116.5(TAFAZZIN):c.542-20C>T rs373841640
NM_000116.5(TAFAZZIN):c.542-2A>G
NM_000116.5(TAFAZZIN):c.542-3C>G rs781795144
NM_000116.5(TAFAZZIN):c.542G>A (p.Gly181Glu)
NM_000116.5(TAFAZZIN):c.543G>A (p.Gly181=) rs782471244
NM_000116.5(TAFAZZIN):c.561C>T (p.Ser187=) rs36005334
NM_000116.5(TAFAZZIN):c.562G>A (p.Glu188Lys) rs375663114
NM_000116.5(TAFAZZIN):c.567C>T (p.Phe189=) rs141773967
NM_000116.5(TAFAZZIN):c.576C>G (p.Phe192Leu) rs1557193924
NM_000116.5(TAFAZZIN):c.583+10G>A rs370536414
NM_000116.5(TAFAZZIN):c.583G>A (p.Gly195Arg) rs878853656
NM_000116.5(TAFAZZIN):c.584-7del rs782192927
NM_000116.5(TAFAZZIN):c.584-9C>A
NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg) rs132630277
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu) rs397515746
NM_000116.5(TAFAZZIN):c.591G>T (p.Gly197=)
NM_000116.5(TAFAZZIN):c.593G>A (p.Arg198His)
NM_000116.5(TAFAZZIN):c.594C>G (p.Arg198=)
NM_000116.5(TAFAZZIN):c.594C>T (p.Arg198=) rs797040235
NM_000116.5(TAFAZZIN):c.605_608del (p.Glu202fs) rs1603381671
NM_000116.5(TAFAZZIN):c.606G>C (p.Glu202Asp) rs781893396
NM_000116.5(TAFAZZIN):c.628C>T (p.Leu210=) rs782162647
NM_000116.5(TAFAZZIN):c.646+14C>T rs191527230
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg) rs1085307797
NM_000116.5(TAFAZZIN):c.647-1G>C rs587776741
NM_000116.5(TAFAZZIN):c.647-6C>T
NM_000116.5(TAFAZZIN):c.647G>A (p.Gly216Glu) rs727504431
NM_000116.5(TAFAZZIN):c.647G>T (p.Gly216Val) rs727504431
NM_000116.5(TAFAZZIN):c.657C>G (p.Asp219Glu)
NM_000116.5(TAFAZZIN):c.657C>T (p.Asp219=) rs140751478
NM_000116.5(TAFAZZIN):c.660C>T (p.Val220=) rs372610945
NM_000116.5(TAFAZZIN):c.674C>T (p.Pro225Leu) rs375151766
NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=) rs201046790
NM_000116.5(TAFAZZIN):c.678C>T (p.Pro226=) rs1603381820
NM_000116.5(TAFAZZIN):c.689G>A (p.Arg230His) rs782655300
NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter) rs1603381860
NM_000116.5(TAFAZZIN):c.700-1G>A rs397515747
NM_000116.5(TAFAZZIN):c.700-5C>T rs782731479
NM_000116.5(TAFAZZIN):c.710_711del (p.Val237fs) rs727504394
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg) rs387907218
NM_000116.5(TAFAZZIN):c.723G>A (p.Lys241=)
NM_000116.5(TAFAZZIN):c.747C>G (p.Leu249=) rs376379156
NM_000116.5(TAFAZZIN):c.747C>T (p.Leu249=) rs376379156
NM_000116.5(TAFAZZIN):c.751C>G (p.Arg251Gly)
NM_000116.5(TAFAZZIN):c.751C>T (p.Arg251Trp) rs372689133
NM_000116.5(TAFAZZIN):c.754_763del (p.Leu252fs) rs1557194381
NM_000116.5(TAFAZZIN):c.757C>T (p.Arg253Trp)
NM_000116.5(TAFAZZIN):c.758G>A (p.Arg253Gln) rs782653725
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val) rs200909606
NM_000116.5(TAFAZZIN):c.762G>A (p.Ala254=) rs1042313041
NM_000116.5(TAFAZZIN):c.763G>A (p.Glu255Lys) rs782498694
NM_000116.5(TAFAZZIN):c.768C>G (p.Asn256Lys) rs926124671
NM_000116.5(TAFAZZIN):c.771G>A (p.Lys257=)
NM_000116.5(TAFAZZIN):c.773C>A (p.Ser258Ter)
NM_000116.5(TAFAZZIN):c.773C>T (p.Ser258Leu)
NM_000116.5(TAFAZZIN):c.774G>A (p.Ser258=) rs782273950
NM_000116.5(TAFAZZIN):c.777+3G>A
NM_000116.5(TAFAZZIN):c.777+6T>C rs782175712
NM_000116.5(TAFAZZIN):c.778-63_778-51del
NM_000116.5(TAFAZZIN):c.779T>G (p.Val260Gly) rs782746355
NM_000116.5(TAFAZZIN):c.790A>G (p.Lys264Glu) rs1557194488
NM_000116.5(TAFAZZIN):c.801G>A (p.Thr267=) rs781792950
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter) rs1298362744
NM_000116.5(TAFAZZIN):c.836del (p.Thr279fs) rs1557194525
NM_000116.5(TAFAZZIN):c.849G>C (p.Gln283His)
NM_000116.5(TAFAZZIN):c.864C>G (p.Leu288=) rs1603382441
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788
TAZ, 1-BP DEL
TAZ, 1-BP INS, NT868
TAZ, IVS1DS, G-C, +5

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