ClinVar Miner

List of variants studied for amino acid metabolism disease by Center of Medical Genetics, Central South University

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NC_000011.9:g.(88911941_88911969)_(88961139_89017940)del
NM_000372.5(TYR):c.1198T>A (p.Trp400Arg) rs1590902150
NM_000372.5(TYR):c.1275C>G (p.Tyr425Ter) rs1590902378
NM_000372.5(TYR):c.157G>T (p.Gly53Cys) rs1591133731
NM_000372.5(TYR):c.529G>C (p.Val177Leu) rs138487695

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