ClinVar Miner

Variants with conflicting interpretations "benign" from PreventionGenetics, part of Exact Sciences and "drug response" from any submitter

Minimum review status of the submission from PreventionGenetics, part of Exact Sciences: Collection method of the submission from PreventionGenetics, part of Exact Sciences:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 18
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HGVS dbSNP gnomAD frequency
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_000684.3(ADRB1):c.1165G>C (p.Gly389Arg) rs1801253 0.69242
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_000754.4(COMT):c.472G>A (p.Val158Met) rs4680 0.44044
NM_000754.4(COMT):c.408C>G (p.Leu136=) rs4818 0.32165
NM_004827.3(ABCG2):c.421C>A (p.Gln141Lys) rs2231142 0.09384
NM_000110.4(DPYD):c.496A>G (p.Met166Val) rs2297595 0.08071
NM_000110.4(DPYD):c.1896T>C (p.Phe632=) rs17376848 0.04278
NM_000767.5(CYP2B6):c.983T>C (p.Ile328Thr) rs28399499 0.02197
NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn) rs1801158 0.01380
NM_000110.4(DPYD):c.1236G>A (p.Glu412=) rs56038477 0.01297
UGT1A1*6 rs4148323 0.00891
NM_001430.5(EPAS1):c.1035-7C>G rs7557402
NM_004621.6(TRPC6):c.2142G>T (p.Thr714=) rs145077205
UGT1A1*28 rs3064744
UGT1A1*36 rs3064744

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