ClinVar Miner

List of variants studied for classic organic aciduria by Kids Research, The Children's Hospital at Westmead

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_032861.4(SERAC1):c.1493G>C (p.Ser498Thr) rs201941476 0.00003
NM_032861.4(SERAC1):c.916C>T (p.Arg306Ter) rs780664696 0.00001
NM_001258392.3(CLPB):c.1591C>T (p.Arg531Trp) rs1949512456

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