ClinVar Miner

List of variants reported as likely pathogenic for 3-methylglutaconic aciduria by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NC_000023.10:g.(?_153640181)_(153641904_?)del
NM_000116.5(TAZ):c.208C>T (p.Gln70Ter) rs397515738
NM_000116.5(TAZ):c.307T>C (p.Cys103Arg) rs397515740
NM_000116.5(TAZ):c.328T>C (p.Ser110Pro) rs397515739
NM_000116.5(TAZ):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAZ):c.590G>A (p.Gly197Glu) rs397515746
NM_000116.5(TAZ):c.647G>T (p.Gly216Val) rs727504431
NM_001081.3(CUBN):c.4460_4464delGATTC
NM_001081.3(CUBN):c.5909_5912TACC[1] (p.Thr1972fs) rs765301342
NM_032861.4(SERAC1):c.262_265dup (p.Gly89fs) rs797045105

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