ClinVar Miner

List of variants in gene DPYS reported by Diasio Lab, Mayo Clinic

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001385.3(DPYS):c.424-62G>T rs7821992 0.63873
NM_001385.3(DPYS):c.-1T>C rs2959023 0.61425
NM_001385.3(DPYS):c.265-58T>C rs2669429 0.45695
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.264+34C>G rs189294405 0.02409
NM_001385.3(DPYS):c.541C>T (p.Arg181Trp) rs36027551 0.01325
NM_001385.3(DPYS):c.19C>G (p.Leu7Val) rs57732538 0.01314
NM_001385.3(DPYS):c.1062T>C (p.Asp354=) rs35013010 0.01112
NM_001385.3(DPYS):c.1029C>G (p.Thr343=) rs117104587 0.00736
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.-104T>C rs541934140 0.00394
NM_001385.3(DPYS):c.1093-47C>A rs192507470 0.00210
NM_001385.3(DPYS):c.264+30G>A rs552354398 0.00169
NM_001385.3(DPYS):c.264+5C>T rs672601293 0.00116
NM_001385.3(DPYS):c.1002G>A (p.Gln334=) rs148318692 0.00086
NM_001385.3(DPYS):c.1092+38C>T rs371343634 0.00019
NM_001385.3(DPYS):c.1412A>G (p.Tyr471Cys) rs373070454 0.00003
NM_001385.3(DPYS):c.1307T>C (p.Val436Ala) rs672601292
NM_001385.3(DPYS):c.1506del (p.Arg503fs) rs79080341

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