ClinVar Miner

List of variants reported as uncertain significance for Deficiency of pyrroline-5-carboxylate reductase by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP
NC_000001.10:g.(?_19199319)_(19204126_?)dup
NM_003748.4(ALDH4A1):c.1070C>T (p.Pro357Leu)
NM_003748.4(ALDH4A1):c.1093A>C (p.Lys365Gln) rs770756077
NM_003748.4(ALDH4A1):c.1137C>T (p.Asp379=)
NM_003748.4(ALDH4A1):c.1236C>G (p.Ser412Arg) rs201762741
NM_003748.4(ALDH4A1):c.1348G>A (p.Gly450Arg)
NM_003748.4(ALDH4A1):c.1439G>A (p.Gly480Glu) rs762708368
NM_003748.4(ALDH4A1):c.1625C>T (p.Thr542Met) rs771061582
NM_003748.4(ALDH4A1):c.16C>T (p.Pro6Ser)
NM_003748.4(ALDH4A1):c.337C>T (p.Arg113Trp) rs142923662
NM_003748.4(ALDH4A1):c.369C>G (p.Asp123Glu) rs147600006
NM_003748.4(ALDH4A1):c.59C>A (p.Ala20Asp)
NM_003748.4(ALDH4A1):c.698A>G (p.Lys233Arg)
NM_003748.4(ALDH4A1):c.740G>T (p.Arg247Leu)
NM_003748.4(ALDH4A1):c.842G>T (p.Gly281Val)

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.