ClinVar Miner

Variants with conflicting interpretations "other" from Eurofins NTD LLC (GA) and "likely benign" from any submitter

Minimum review status of the submission from Eurofins NTD LLC (GA): Collection method of the submission from Eurofins NTD LLC (GA):
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 40
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HGVS dbSNP gnomAD frequency
NM_024006.4(VKORC1):c.-1639G>A rs9923231 0.31157
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131 0.25830
CYP2D6*10 rs1065852 0.18675
NM_000769.4(CYP2C19):c.681G>A (p.Pro227=) rs4244285 0.16148
CYP2D6*4 rs3892097 0.14340
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) rs4149056 0.12106
CYP2C9*2 rs1799853 0.08975
NM_000036.3(AMPD1):c.143C>T (p.Pro48Leu) rs61752479 0.08857
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter) rs17602729 0.08701
NM_000041.2(APOE):c.526C>T (p.Arg176Cys) rs7412 0.07986
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
CYP2D6*41 rs28371725 0.06736
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_000367.5(TPMT):c.719A>G (p.Tyr240Cys) rs1142345 0.04459
NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln) rs2274976 0.03996
NM_000106.6(CYP2D6):c.1012G>A (p.Val338Met) rs59421388 0.02682
NM_000367.5(TPMT):c.460G>A (p.Ala154Thr) rs1800460 0.02661
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299 0.02215
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp) rs11555096 0.02131
NM_000237.3(LPL):c.106G>A (p.Asp36Asn) rs1801177 0.01951
NM_000106.6(CYP2D6):c.775del (p.Arg259fs) rs35742686 0.01277
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052 0.00910
CYP2D6*6 rs5030655 0.00883
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884 0.00596
NM_000104.4(CYP1B1):c.685G>A (p.Glu229Lys) rs57865060 0.00478
CYP2C9*5 rs28371686 0.00342
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298 0.00274
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp) rs121907970 0.00190
NM_000769.1(CYP2C19):c.1A>G (p.Met1Val) rs28399504 0.00156
NM_000106.5(CYP2D6):c.971A>C (p.His324Pro) rs5030867 0.00027
NM_000106.5(CYP2D6):c.124G>A (p.Gly42Arg) rs5030862 0.00024
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr) rs121907984 0.00012
CYP2C9*6 rs9332131
CYP2D6*17 rs28371706
NM_000106.5(CYP2D6):c.*264G>A (p.Gly169Arg) rs5030865
NM_000106.5(CYP2D6):c.505G>T (p.Gly169Ter) rs5030865
NM_000106.6(CYP2D6):c.841_843del (p.Lys281del) rs5030656
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171
Single allele

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