ClinVar Miner

List of variants studied for inborn disorder of amino acid metabolism by Centre for Inherited Metabolic Diseases, Karolinska University Hospital

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233 0.00061
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter) rs398124598 0.00015
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu) rs121913578 0.00009
NM_054012.4(ASS1):c.787G>A (p.Val263Met) rs192838388 0.00005
NM_000255.4(MMUT):c.278G>A (p.Arg93His) rs121918251 0.00004
NM_000481.4(AMT):c.217C>T (p.Arg73Cys) rs386833679 0.00003
NM_001918.5(DBT):c.252G>T (p.Trp84Cys) rs200638406 0.00003
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg) rs120074141 0.00002
NM_005763.4(AASS):c.395G>A (p.Arg132His) rs761154340 0.00002
NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe) rs753461919 0.00001
NM_001918.5(DBT):c.5C>T (p.Ala2Val) rs398123672 0.00001
NM_005763.4(AASS):c.3G>A (p.Met1Ile) rs779793755 0.00001
NM_005957.5(MTHFR):c.680C>T (p.Thr227Met) rs748571395 0.00001
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter) rs1029096863 0.00001
NM_000048.4(ASL):c.343G>T (p.Asp115Tyr)
NM_000254.3(MTR):c.2788_2791del (p.Leu930fs) rs1666006480
NM_000254.3(MTR):c.609+1088G>A rs752526782
NM_000255.4(MMUT):c.1933_1937del (p.Val645fs)
NM_000255.4(MMUT):c.438T>A (p.Tyr146Ter) rs200735240
NM_000277.3(PAH):c.473G>C (p.Arg158Pro) rs5030843
NM_000282.4(PCCA):c.2040G>A (p.Ala680=) rs369982920
NM_000341.4(SLC3A1):c.1370dup (p.Leu457fs) rs2104383898
NM_000341.4(SLC3A1):c.342_346dup (p.Asp116delinsAlaTer) rs755432720
NM_000341.4(SLC3A1):c.916A>T (p.Lys306Ter) rs768222969
NM_000481.4(AMT):c.602_603del (p.Lys201fs) rs1279743247
NM_001081.4(CUBN):c.2301G>C (p.Glu767Asp)
NM_001330260.2(SCN8A):c.4944G>C (p.Leu1648Phe) rs773587801
NM_001918.5(DBT):c.1184C>T (p.Thr395Ile) rs1661797765
NM_001918.5(DBT):c.1209+1G>A rs1661795778
NM_006721.4(ADK):c.953C>A (p.Ala318Glu) rs397514452
NM_014191.4(SCN8A):c.668G>C (p.Arg223Thr)
NM_015702.3(MMADHC):c.9+5G>A
NM_016373.4(WWOX):c.183C>A (p.Tyr61Ter) rs759766243
NM_022132.5(MCCC2):c.739-2A>G rs2112427637
NM_032861.4(SERAC1):c.1228T>C (p.Trp410Arg)
NM_054012.4(ASS1):c.553C>T (p.Leu185Phe)

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.