ClinVar Miner

List of variants reported as uncertain significance for 3-methylglutaconic aciduria by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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_001258392.3(CLPB):c.1361T>C (p.Ile454Thr) rs770073084 0.00001
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg) rs781941217
NM_001001563.5(TIMM50):c.671G>T (p.Arg224Ile) rs2079508089
NM_145261.4(DNAJC19):c.62A>T (p.Tyr21Phe) rs752913622

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