ClinVar Miner

Variants with conflicting interpretations "other" from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and "benign" from any submitter

Minimum review status of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics: Collection method of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 26
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HGVS dbSNP
CYP2C19*17 rs12248560
CYP2C9*5 rs28371686
NM_000041.2(APOE):c.526C>T (p.Arg176Cys) rs7412
NM_000098.3(CPT2):c.1342T>C (p.Phe448Leu) rs74315297
NM_000106.6(CYP2D6):c.1457G>C (p.Ser486Thr) rs1135840
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298
NM_000237.3(LPL):c.106G>A (p.Asp36Asn) rs1801177
NM_000487.6(ARSA):c.*96A>G rs6151429
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421
NM_000520.4(HEXA):c.745C>T (p.Arg249Trp) rs138058578
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp) rs121907970
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr) rs121907984
NM_001072.4(UGT1A6):c.1088C>T (p.Pro363Leu) rs34946978
NM_001072.4(UGT1A6):c.862-6061C>A rs35350960
NM_003742.4(ABCB11):c.3556G>A (p.Glu1186Lys) rs1521808
NM_005957.4(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131
NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln) rs2274976
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) rs4149056
NM_139011.3(HFE):c.77-2168C>G rs1799945
Single allele

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