ClinVar Miner

List of variants reported as likely benign for classic organic aciduria by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
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
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) rs190023981

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