ClinVar Miner

List of variants studied for 3-Methylglutaconic aciduria type 2 by Illumina Laboratory Services, Illumina

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01627
NM_000116.5(TAFAZZIN):c.-88G>C rs113130344 0.01005
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788 0.00367
NM_000116.5(TAFAZZIN):c.646+14C>T rs191527230 0.00206
NM_000116.5(TAFAZZIN):c.*560G>A rs782808430 0.00093
NM_000116.5(TAFAZZIN):c.*396C>T rs144283894 0.00036
NM_000116.5(TAFAZZIN):c.*618A>G rs781924638 0.00007
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val) rs200909606 0.00006
NM_000116.5(TAFAZZIN):c.*33G>A rs782129745 0.00002
NM_000116.5(TAFAZZIN):c.270G>A (p.Leu90=) rs781986219 0.00002
NM_000116.5(TAFAZZIN):c.351G>A (p.Lys117=) rs782564325 0.00002
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=) rs1057515818 0.00001
NM_000116.5(TAFAZZIN):c.535C>G (p.Pro179Ala) rs397515744 0.00001
NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=) rs201046790 0.00001
NM_000116.5(TAFAZZIN):c.*165T>A rs2068620449
NM_000116.5(TAFAZZIN):c.*387C>T rs1057515819
NM_000116.5(TAFAZZIN):c.*470= rs743547
NM_000116.5(TAFAZZIN):c.*648A>C rs1413243483
NM_000116.5(TAFAZZIN):c.49T>C (p.Trp17Arg) rs2068313278
NM_000116.5(TAFAZZIN):c.647-6C>T rs901353067
NM_000116.5(TAZ):c.-119= rs2522915552

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