ClinVar Miner

List of variants reported as likely pathogenic for 3-Methylglutaconic aciduria type 2

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Total variants: 12
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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.307T>C (p.Cys103Arg) rs397515740
NM_000116.4(TAZ):c.328T>C (p.Ser110Pro) rs397515739
NM_000116.4(TAZ):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.4(TAZ):c.542-3C>G rs781795144
NM_000116.4(TAZ):c.590G>A (p.Gly197Glu) rs397515746
NM_000116.4(TAZ):c.647G>T (p.Gly216Val) rs727504431
NM_000116.4(TAZ):c.823C>T (p.Gln275Ter) rs397515750
NM_181312.3(TAZ):c.794delC (p.Thr265Ilefs) rs1557194525
NM_181313.3(TAZ):c.658A>G (p.Lys220Glu) rs1557194488

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