ClinVar Miner

List of variants studied for P5CS deficiency by OMIM

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002860.4(ALDH18A1):c.1273C>T (p.Arg425Cys) rs762742204 0.00009
NM_002860.4(ALDH18A1):c.2345A>G (p.Tyr782Cys) rs774047299 0.00006
NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln) rs121434582 0.00002
NM_002860.4(ALDH18A1):c.1923+1G>A rs863223315 0.00001
NM_002860.4(ALDH18A1):c.2143G>C (p.Asp715His) rs752669339 0.00001
NM_002860.4(ALDH18A1):c.383G>A (p.Arg128His) rs768323248 0.00001
NM_002860.4(ALDH18A1):c.991A>C (p.Thr331Pro) rs765380273 0.00001
NM_002860.4(ALDH18A1):c.177del (p.Lys59fs) rs1555264243
NM_002860.4(ALDH18A1):c.1802-4_1924-902delinsG
NM_002860.4(ALDH18A1):c.1910T>C (p.Leu637Pro) rs869320690
NM_002860.4(ALDH18A1):c.1994G>T (p.Arg665Leu) rs766264810
NM_002860.4(ALDH18A1):c.2131del (p.Leu711fs) rs587777858
NM_002860.4(ALDH18A1):c.2350C>T (p.His784Tyr) rs121434583
NM_002860.4(ALDH18A1):c.359T>C (p.Val120Ala) rs863224945
NM_002860.4(ALDH18A1):c.412C>T (p.Arg138Trp) rs863225044
NM_002860.4(ALDH18A1):c.413G>A (p.Arg138Gln) rs863225045
NM_002860.4(ALDH18A1):c.413G>T (p.Arg138Leu) rs863225045
NM_002860.4(ALDH18A1):c.727G>C (p.Val243Leu) rs864321669
NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln) rs864321670

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.