ClinVar Miner

List of variants studied for amino acid metabolism disease by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (117):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_000048.4(ASL):c.1358G>A (p.Arg453His) rs762805462 0.00004
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011 0.00004
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904 0.00004
NM_000372.5(TYR):c.121G>A (p.Gly41Arg) rs369291837 0.00002
NM_000372.5(TYR):c.1110G>A (p.Met370Ile) rs1207709557 0.00001
NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln) rs574132670 0.00001
NM_006623.4(PHGDH):c.357-1G>A rs766427173 0.00001
NM_000161.3(GCH1):c.632T>C (p.Met211Thr) rs1566658823
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu) rs773970123
NM_001080.3(ALDH5A1):c.1402+1G>A rs762290992
NM_003124.5(SPR):c.57C>G (p.Phe19Leu) rs774659668
NM_003748.4(ALDH4A1):c.363_370dup (p.Arg124fs)
NM_003748.4(ALDH4A1):c.658G>C (p.Ala220Pro) rs778113718
NM_005957.5(MTHFR):c.476A>G (p.Asp159Gly) rs1644355976

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