ClinVar Miner

List of variants studied for 3-methylglutaconic aciduria by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) rs387907236 0.00002
NM_000116.5(TAFAZZIN):c.773C>A (p.Ser258Ter) rs2068606445
NM_032861.4(SERAC1):c.438del (p.Thr147fs) rs1583595091
NM_145261.4(DNAJC19):c.158G>A (p.Gly53Glu) rs755024172

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