ClinVar Miner

List of variants studied for 3-methylglutaconic aciduria by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_000116.5(TAZ):c.542-20C>T rs373841640
NM_000116.5(TAZ):c.594C>T (p.Arg198=) rs797040235
NM_000116.5(TAZ):c.747C>T (p.Leu249=) rs376379156
NM_000116.5(TAZ):c.873G>A (p.Gly291=) rs35902788

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