ClinVar Miner

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

Minimum review status of the submission from Invitae: Collection method of the submission from Invitae:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 22
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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_176817.5(TAS2R38):c.785= (p.Ala262=) rs1726866 0.53241
NM_194255.4(SLC19A1):c.80A>G (p.His27Arg) rs1051266 0.51413
NM_000103.4(CYP19A1):c.*19C>T rs10046 0.42803
NM_000106.6(CYP2D6):c.1457= (p.Ser486=) rs1135840 0.42305
NM_000110.4(DPYD):c.85T>C (p.Cys29Arg) rs1801265 0.27966
NM_004044.7(ATIC):c.1503+675T>C rs4673993 0.25749
NM_001082.5(CYP4F2):c.1297G>A (p.Val433Met) rs2108622 0.22058
NM_001074.4(UGT2B7):c.1062C>T (p.Tyr354=) rs4348159 0.17671
CYP2C9*11 rs28371685 0.00738
NM_001348946.2(ABCB1):c.3320A>C (p.Gln1107Pro) rs55852620 0.00629
CYP2C19*15 rs17882687 0.00626
CYP2C9*5 rs28371686 0.00342
NM_024006.6(VKORC1):c.106G>T (p.Asp36Tyr) rs61742245 0.00150
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
CYP2C9*6 rs9332131
CYP2C9*8 rs7900194
NM_000106.6(CYP2D6):c.886= (p.Arg296=) rs16947
NM_001430.5(EPAS1):c.1035-7C>G rs7557402
NM_004621.6(TRPC6):c.2142G>T (p.Thr714=) rs145077205
UGT1A1*36 rs3064744

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