ClinVar Miner

List of variants reported as pathogenic for amino acid metabolism disease by Centre for Inherited Metabolic Diseases, Karolinska University Hospital

Included ClinVar conditions (117):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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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_000481.4(AMT):c.217C>T (p.Arg73Cys) rs386833679 0.00003
NM_001918.5(DBT):c.252G>T (p.Trp84Cys) rs200638406 0.00003
NM_005957.5(MTHFR):c.680C>T (p.Thr227Met) rs748571395 0.00001
NM_000254.3(MTR):c.2788_2791del (p.Leu930fs) rs1666006480
NM_000254.3(MTR):c.609+1088G>A rs752526782
NM_000277.3(PAH):c.473G>C (p.Arg158Pro) rs5030843
NM_000481.4(AMT):c.602_603del (p.Lys201fs) rs1279743247
NM_001918.5(DBT):c.1209+1G>A rs1661795778
NM_006721.4(ADK):c.953C>A (p.Ala318Glu) rs397514452

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