ClinVar Miner

List of variants reported as likely pathogenic for amino acid metabolism disease by Pathology and Clinical Laboratory Medicine, King Fahad Medical City

Included ClinVar conditions (117):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000320.3(QDPR):c.344C>T (p.Ser115Leu) rs1407920390 0.00001
NM_000277.3(PAH):c.671T>C (p.Ile224Thr) rs62507323
NM_000317.3(PTS):c.238A>G (p.Met80Val) rs1057517810
NM_000317.3(PTS):c.2T>G (p.Met1Arg) rs1859865221
NM_000317.3(PTS):c.342C>G (p.Ile114Met) rs17851590
NM_015702.3(MMADHC):c.702dup (p.Gly235fs) rs1682617973
NM_183050.4(BCKDHB):c.1144T>C (p.Cys382Arg) rs727503822

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