ClinVar Miner

List of variants in gene TAFAZZIN 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: 39
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HGVS dbSNP
NM_000116.5(TAFAZZIN):c.*396C>T rs144283894
NM_000116.5(TAFAZZIN):c.198G>A (p.Val66=)
NM_000116.5(TAFAZZIN):c.216C>T (p.Cys72=) rs1557191148
NM_000116.5(TAFAZZIN):c.239-7C>T
NM_000116.5(TAFAZZIN):c.270G>A (p.Leu90=)
NM_000116.5(TAFAZZIN):c.294A>T (p.Ala98=)
NM_000116.5(TAFAZZIN):c.371-6C>A rs782195445
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311
NM_000116.5(TAFAZZIN):c.465T>C (p.Asp155=) rs1603381303
NM_000116.5(TAFAZZIN):c.468C>T (p.Gly156=)
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.541+10G>A
NM_000116.5(TAFAZZIN):c.542-20C>T rs373841640
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.567C>T (p.Phe189=) rs141773967
NM_000116.5(TAFAZZIN):c.583+10G>A rs370536414
NM_000116.5(TAFAZZIN):c.584-7del rs782192927
NM_000116.5(TAFAZZIN):c.591G>T (p.Gly197=)
NM_000116.5(TAFAZZIN):c.594C>G (p.Arg198=)
NM_000116.5(TAFAZZIN):c.594C>T (p.Arg198=) rs797040235
NM_000116.5(TAFAZZIN):c.628C>T (p.Leu210=) rs782162647
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.675G>A (p.Pro225=) rs201046790
NM_000116.5(TAFAZZIN):c.678C>T (p.Pro226=) rs1603381820
NM_000116.5(TAFAZZIN):c.700-5C>T rs782731479
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.761C>T (p.Ala254Val) rs200909606
NM_000116.5(TAFAZZIN):c.762G>A (p.Ala254=) rs1042313041
NM_000116.5(TAFAZZIN):c.771G>A (p.Lys257=)
NM_000116.5(TAFAZZIN):c.774G>A (p.Ser258=) rs782273950
NM_000116.5(TAFAZZIN):c.801G>A (p.Thr267=) rs781792950
NM_000116.5(TAFAZZIN):c.864C>G (p.Leu288=) rs1603382441
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788

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