List of variants in gene DNAJC19 reported as pathogenic for 3-methylglutaconic aciduria type 5

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_145261.4(DNAJC19):c.300del (p.Ala101fs)	rs587777224	0.00008
NM_145261.4(DNAJC19):c.130-1G>C	rs137854888	0.00001
NM_145261.4(DNAJC19):c.62dup (p.Tyr21Ter)	rs1560040369	0.00001
NC_000003.11:g.(?_180707368)_(180707390_?)del
NM_145261.4(DNAJC19):c.102del (p.Lys34fs)	rs2473933595
NM_145261.4(DNAJC19):c.122del (p.Pro41fs)
NM_145261.4(DNAJC19):c.168dup (p.Lys57fs)
NM_145261.4(DNAJC19):c.250C>T (p.Arg84Ter)	rs764568129
NM_145261.4(DNAJC19):c.263del (p.Leu87_Leu88insTer)
NM_145261.4(DNAJC19):c.51del (p.Phe17fs)	rs1715007577
NM_145261.4(DNAJC19):c.55+1G>A	rs2108509746
NM_145261.4(DNAJC19):c.63C>G (p.Tyr21Ter)	rs145786060
NM_145261.4(DNAJC19):c.63del (p.Arg20_Tyr21insTer)	rs2108509666

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.