ClinVar Miner

Variants with conflicting interpretations "benign" from GeneDx and "drug response" from any submitter

Minimum review status of the submission from GeneDx: Collection method of the submission from GeneDx:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 37
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HGVS dbSNP gnomAD frequency
NM_030667.3(PTPRO):c.1106-10T>A rs4764199 0.84939
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_006297.3(XRCC1):c.1196A>G (p.Gln399Arg) rs25487 0.71503
NM_000024.6(ADRB2):c.-47C>T rs1042711 0.67439
NM_024006.6(VKORC1):c.283+837T>C rs2359612 0.65429
NM_001348946.2(ABCB1):c.1236T>C (p.Gly412=) rs1128503 0.63165
NM_018344.6(SLC29A3):c.473C>T (p.Ser158Phe) rs780668 0.61569
NM_001348946.2(ABCB1):c.3435T>C (p.Ile1145=) rs1045642 0.57896
NM_000145.4(FSHR):c.919G>A (p.Ala307Thr) rs6165 0.47188
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) rs1801394 0.44947
NM_000754.4(COMT):c.186C>T (p.His62=) rs4633 0.44697
NM_000103.4(CYP19A1):c.*19C>T rs10046 0.42803
NM_000754.4(COMT):c.289+90A>G rs2239393 0.39046
NM_001276254.2(IFNL4):c.151-152G>A rs12979860 0.37827
NM_000754.4(COMT):c.408C>G (p.Leu136=) rs4818 0.32165
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_001348946.2(ABCB1):c.287-25G>T rs2235015 0.23041
NM_000769.1(CYP2C19):c.-806C>T rs12248560 0.20441
NM_000754.4(COMT):c.615+75G>C rs4646315 0.17853
NC_000019.10:g.39252525T>G rs8099917 0.15536
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) rs4149056 0.12106
NM_033453.4(ITPA):c.124+21A>C rs7270101 0.09874
NM_033453.4(ITPA):c.94C>A (p.Pro32Thr) rs1127354 0.06104
NM_000754.4(COMT):c.219G>A (p.Gln73=) rs740602 0.05987
NM_000754.4(COMT):c.597G>A (p.Pro199=) rs769224 0.04486
NM_000754.4(COMT):c.616-45G>C rs117222687 0.04168
NM_000110.4(DPYD):c.2194G>A (p.Val732Ile) rs1801160 0.03794
NM_133509.5(RAD51B):c.1094C>G (p.Pro365Arg) rs28908468 0.02778
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) rs67376798 0.00334
NM_000769.1(CYP2C19):c.636G>A (p.Trp212Ter) rs4986893 0.00149
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672 0.00098
NM_001348946.2(ABCB1):c.2677T>G (p.Ser893Ala) rs2032582
NM_001430.5(EPAS1):c.1035-7C>G rs7557402
NM_022489.4(INF2):c.2507T>C (p.Ile836Thr) rs767351070
UGT1A1*28 rs3064744
UGT1A1*36 rs3064744
UGT1A1*37 rs3064744

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