ClinVar Miner

List of variants studied for classic organic aciduria by Molecular Genetics Diagnostic Laboratory,Detroit Medical Center University Laboratories

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000060.3(BTD):c.310-15delT rs587783008
NM_001370658.1(BTD):c.1312dup (p.Cys438fs) rs587783007
NM_001370658.1(BTD):c.197T>G (p.Met66Arg) rs587783002
NM_001370658.1(BTD):c.395C>G (p.Thr132Arg) rs587783003
NM_001370658.1(BTD):c.566G>A (p.Arg189His) rs398123139
NM_001370658.1(BTD):c.623A>G (p.Asp208Gly) rs587783004
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile) rs587783005
NM_001370658.1(BTD):c.838A>C (p.Asn280His) rs587783006

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