ClinVar Miner

List of variants studied for classic organic aciduria by Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NG_008939.1:g.883_8934del8052
NM_000019.4(ACAT1):c.653C>T (p.Ser218Phe) rs879255505
NM_000411.8(HLCS):c.1544G>A (p.Ser515Asn) rs773398782

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