ClinVar Miner

List of variants reported as 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: 13
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NM_000255.4(MMUT):c.1595G>A (p.Arg532His) rs1141321
NM_000255.4(MMUT):c.2011A>G (p.Ile671Val) rs8589
NM_000255.4(MMUT):c.636G>A (p.Lys212=) rs2229384
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359
NM_000282.4(PCCA):c.914+19A>G rs4306370
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250
NM_002225.5(IVD):c.234+14T>C rs2289331
NM_015702.3(MMADHC):c.453G>A (p.Gln151=) rs11545261
NM_018368.4(LMBRD1):c.1407T>A (p.Asp469Glu) rs12648
NM_052845.4(MMAB):c.56G>A (p.Arg19His) rs10774775
NM_052845.4(MMAB):c.57C>A (p.Arg19=) rs10774774
NM_052845.4(MMAB):c.716T>A (p.Met239Lys) rs9593
NM_172250.3(MMAA):c.747G>A (p.Ser249=) rs11721553

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