ClinVar Miner

List of variants reported as benign for dihydropyrimidinuria by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001385.3(DPYS):c.-1T>C rs2959023 0.61425
NM_001385.3(DPYS):c.216C>T (p.Phe72=) rs2298840 0.20920
NM_001385.3(DPYS):c.15G>A (p.Ser5=) rs182332679 0.03516
NM_001385.3(DPYS):c.672A>G (p.Ala224=) rs7825427 0.02132
NM_001385.3(DPYS):c.541C>T (p.Arg181Trp) rs36027551 0.01325
NM_001385.3(DPYS):c.1350C>T (p.Ala450=) rs75490773 0.00805
NM_001385.3(DPYS):c.1029C>G (p.Thr343=) rs117104587 0.00736
NM_001385.3(DPYS):c.*148C>T rs142452664 0.00494
NM_001385.3(DPYS):c.1092+9C>T rs138453168 0.00444
NM_001385.3(DPYS):c.765T>C (p.Ala255=) rs35371065 0.00426
NM_001385.3(DPYS):c.17G>A (p.Arg6Gln) rs199618701 0.00034
NM_001385.3(DPYS):c.*65T>C rs151260693 0.00019
NM_001385.3(DPYS):c.*344T>A rs73699419

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