ClinVar Miner

List of variants reported as pathogenic for amino acid metabolism disease by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Included ClinVar conditions (117):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_000071.3(CBS):c.833T>C (p.Ile278Thr) rs5742905 0.00083
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
NM_000071.3(CBS):c.919G>A (p.Gly307Ser) rs121964962 0.00025
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) rs5030860 0.00025
NM_001918.5(DBT):c.901C>T (p.Arg301Cys) rs185492864 0.00025
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242 0.00011
NM_000137.4(FAH):c.1069G>T (p.Glu357Ter) rs121965075 0.00008
NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter) rs118203982 0.00007
NM_000170.3(GLDC):c.128del (p.Asp43fs) rs1251443902 0.00001
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter) rs754990692 0.00001
NM_000277.3(PAH):c.691T>C (p.Ser231Pro) rs5030845
NM_000360.4(TH):c.283del (p.Ala95fs) rs797045111
NM_000481.4(AMT):c.870G>A (p.Trp290Ter) rs797045082

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