ClinVar Miner

List of variants studied for inborn disorder of amino acid metabolism by Division of Human Genetics, Children's Hospital of Philadelphia

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr) rs139852818 0.00137
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00049
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_001609.4(ACADSB):c.303+1G>A rs147936696 0.00037
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter) rs191905539 0.00012
NM_015506.3(MMACHC):c.566G>A (p.Arg189His) rs761221416 0.00003
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly) rs62508736 0.00001
NM_014251.3(SLC25A13):c.468+1G>C rs1060499612 0.00001
NM_001875.5(CPS1):c.209_216dup (p.Phe73fs) rs1553509010
NM_004975.4(KCNB1):c.1153C>A (p.Pro385Thr) rs1060499592
NM_004975.4(KCNB1):c.605C>T (p.Ser202Phe) rs1060499607
NM_015506.3(MMACHC):c.270dup (p.Arg91Ter) rs1553162786

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.