ClinVar Miner

List of variants studied for amino acid metabolism disease by Department of Pediatrics, The First Affiliated Hospital, Jinan University

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_014251.3(SLC25A13):c.1453-1G>A rs1792048079
NM_014251.3(SLC25A13):c.69+5G>A rs1319034578

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