ClinVar Miner

List of variants studied for classic organic aciduria by Centogene AG - the Rare Disease Company

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_000532.5(PCCB):c.884G>C (p.Ser295Thr)
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.1448_1452del (p.Gly483fs) rs398123138
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_002225.5(IVD):c.890C>T (p.Ala297Val) rs796051983

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