ClinVar Miner

List of variants reported as likely pathogenic for amino acid metabolism disease by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (117):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.915C>A (p.Asp305Glu) rs142170797 0.00017
GRCh37/hg19 16p13.2(chr16:8841965-8851663)
NM_020686.6:c.(168+1_169-1)_(366+1_367-1)del

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