ClinVar Miner

List of variants studied for dihydropyrimidinuria by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (1):
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001385.3(DPYS):c.1423C>T (p.Arg475Ter) rs61758444 0.00011
NM_001385.3(DPYS):c.1468C>T (p.Arg490Cys) rs142574766 0.00010
NM_001385.3(DPYS):c.1078T>C (p.Trp360Arg) rs121964924 0.00004
NM_001385.3(DPYS):c.1506del (p.Arg503fs) rs79080341

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