ClinVar Miner

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

Included ClinVar conditions (18):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

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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_032861.4(SERAC1):c.443G>T (p.Arg148Leu)	rs376922578
NM_145261.4(DNAJC19):c.63C>G (p.Tyr21Ter)	rs145786060

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