ClinVar Miner

List of variants studied for classic organic aciduria by Center for Molecular Medicine, Children’s Hospital of Fudan University

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) rs387907236 0.00002
NM_000282.4(PCCA):c.1845+1G>A rs1595860868
NM_000282.4(PCCA):c.446del (p.Asn149fs) rs1206838893
NM_000532.5(PCCB):c.1597A>G (p.Lys533Glu) rs1935483520
NM_001370658.1(BTD):c.1433dup (p.Leu478fs) rs397514425
NM_002225.5(IVD):c.350G>A (p.Arg117Gln) rs145725101

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