ClinVar Miner

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

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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_000110.4(DPYD):c.85= (p.Cys29=) rs1801265 0.72034
NM_000110.4(DPYD):c.1740+40A>G rs2811178 0.61570
NM_000110.4(DPYD):c.*768G>A rs291592 0.43806
NM_000110.4(DPYD):c.*780C>T rs291593 0.28025
NM_000110.4(DPYD):c.1627A>G (p.Ile543Val) rs1801159 0.18679
NM_000110.4(DPYD):c.1974+75A>G rs72728438 0.18528
NM_000110.4(DPYD):c.1740+39C>T rs2786783 0.17597
NM_000110.4(DPYD):c.958+134T>G rs2811202 0.15180
NM_000110.4(DPYD):c.763-118A>G rs3790387 0.09806
NM_000110.4(DPYD):c.1129-15T>C rs56293913 0.09765
NM_000110.4(DPYD):c.2300-39G>A rs12137711 0.09021
NM_000110.4(DPYD):c.1340-106T>A rs61789183 0.08725
NM_000110.4(DPYD):c.496A>G (p.Met166Val) rs2297595 0.08071
NM_000110.4(DPYD):c.*573G>A rs1042482 0.05769
NM_000110.4(DPYD):c.1896T>C (p.Phe632=) rs17376848 0.04278
NM_000110.4(DPYD):c.2194G>A (p.Val732Ile) rs1801160 0.03794
NM_000110.4(DPYD):c.*900T>C rs17470762 0.02724
NM_000110.4(DPYD):c.1218G>A (p.Met406Ile) rs61622928 0.02183
NM_000110.4(DPYD):c.851-31C>T rs2786491 0.01754
NM_000110.4(DPYD):c.850+41T>C rs112550271 0.01564
NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn) rs1801158 0.01380
NM_000110.4(DPYD):c.483+18G>A rs56276561 0.01302
NM_000110.4(DPYD):c.1236G>A (p.Glu412=) rs56038477 0.01297
NM_000110.4(DPYD):c.1371C>T (p.Asn457=) rs57918000 0.00785
NM_000110.4(DPYD):c.958+36A>G rs114968502 0.00780
NM_000110.4(DPYD):c.151-69G>A rs115632870 0.00703
NM_000110.4(DPYD):c.557A>G (p.Tyr186Cys) rs115232898 0.00622
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) rs67376798 0.00334
NM_000110.4(DPYD):c.234-81G>A rs552156826 0.00132
NM_000110.4(DPYD):c.2766+19A>G rs375268978 0.00056
NM_000110.4(DPYD):c.1524+16C>A rs199469537 0.00048
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.1358C>G (p.Pro453Arg) rs144395748 0.00031
NM_000110.4(DPYD):c.1905C>T (p.Asn635=) rs3918289 0.00021
NM_000110.4(DPYD):c.2049C>G (p.Ala683=) rs183475941 0.00019
NM_000110.4(DPYD):c.525G>A (p.Ser175=) rs6670886 0.00019
NM_000110.4(DPYD):c.2161G>A (p.Ala721Thr) rs145548112 0.00010
NM_000110.4(DPYD):c.2180-44T>C rs672601280 0.00004
NM_000110.4(DPYD):c.2329G>T (p.Ala777Ser) rs672601276 0.00004
NM_000110.4(DPYD):c.1555C>T (p.Pro519Ser) rs672601282 0.00003
NM_000110.4(DPYD):c.2058+42A>G rs368002831 0.00003
NM_000110.4(DPYD):c.2300-109T>C rs672601279 0.00003
NM_000110.4(DPYD):c.*173T>C rs672601272
NM_000110.4(DPYD):c.*736A>T rs672601271
NM_000110.4(DPYD):c.*911A>G rs672601270
NM_000110.4(DPYD):c.*961A>G rs672601269
NM_000110.4(DPYD):c.1129-11T>G rs672601283
NM_000110.4(DPYD):c.1741-65C>T rs672601281
NM_000110.4(DPYD):c.2299+100C>T rs34534958
NM_000110.4(DPYD):c.2300-40G>T rs672601278
NM_000110.4(DPYD):c.2301G>T (p.Gly767=) rs672601277
NM_000110.4(DPYD):c.233+36T>C rs672601290
NM_000110.4(DPYD):c.2532A>G (p.Glu844=) rs672601275
NM_000110.4(DPYD):c.2598A>G (p.Pro866=) rs672601274
NM_000110.4(DPYD):c.265A>T (p.Lys89Ter) rs672601289
NM_000110.4(DPYD):c.269G>T (p.Ser90Ile) rs672601288
NM_000110.4(DPYD):c.2987G>A (p.Cys996Tyr) rs672601273
NM_000110.4(DPYD):c.3067C>A (p.Pro1023Thr) rs114096998
NM_000110.4(DPYD):c.542A>C (p.Lys181Thr) rs672601287
NM_000110.4(DPYD):c.850+90T>C rs672601286
NM_000110.4(DPYD):c.869A>G (p.Lys290Arg) rs672601285
NM_000110.4(DPYD):c.887G>A (p.Gly296Asp) rs672601284
NM_000110.4(DPYD):c.959-51T>C rs115349832

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