ClinVar Miner

List of variants studied for 3-methylglutaconic aciduria by GenomeConnect - Invitae Patient Insights Network

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001258392.3(CLPB):c.713C>T (p.Thr238Met) rs200032855 0.00003
NM_032861.4(SERAC1):c.1725_1727dup (p.Glu575_Phe576insLeu) rs1478893955 0.00001
NM_025136.4(OPA3):c.439_440del (p.Gly147fs)

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