ClinVar Miner

List of variants studied for 3-methylglutaconic aciduria type 3 by GenomeConnect, ClinGen

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001017989.3(OPA3):c.481G>A (p.Ala161Thr) rs1445523438 0.00001
NM_025136.4(OPA3):c.55G>A (p.Val19Ile) rs1343690502
NM_145261.4(DNAJC19):c.63C>G (p.Tyr21Ter) rs145786060

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