ClinVar Miner

List of variants studied for dihydropyrimidine dehydrogenase deficiency by Revvity Omics, Revvity

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000110.4(DPYD):c.2485G>A (p.Asp829Asn) rs199777072 0.00130
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser) rs55886062 0.00040
NM_000110.4(DPYD):c.1615G>A (p.Gly539Arg) rs142619737 0.00032
NM_000110.4(DPYD):c.257C>T (p.Pro86Leu) rs568132506 0.00004
NM_000110.4(DPYD):c.2043_2058del (p.Leu682fs) rs773499329
NM_000110.4(DPYD):c.299_302del (p.Phe100fs) rs72549309
NM_000110.4(DPYD):c.321+1G>A
NM_000110.4(DPYD):c.328T>C (p.Tyr110His)

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