ClinVar Miner

Variants with conflicting interpretations "benign" from GeneDx and "other" 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: 30
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HGVS dbSNP gnomAD frequency
NM_000106.6(CYP2D6):c.1457G>C (p.Ser486Thr) rs1135840 0.57695
NM_000446.6(PON1):c.-108C>T rs705379 0.36079
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131 0.25830
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp) rs1303 0.21786
NM_000769.1(CYP2C19):c.-806C>T rs12248560 0.20441
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_005141.4(FGB):c.1433G>A (p.Arg478Lys) rs4220 0.15295
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) rs4149056 0.12106
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His) rs709932 0.11804
NM_000036.3(AMPD1):c.143C>T (p.Pro48Leu) rs61752479 0.08857
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln) rs2274976 0.03996
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075 0.02537
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_003742.4(ABCB11):c.3556G>A (p.Glu1186Lys) rs1521808 0.00943
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052 0.00910
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) rs67376798 0.00334
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.636G>A (p.Trp212Ter) rs4986893 0.00149
NM_000098.3(CPT2):c.1342T>C (p.Phe448Leu) rs74315297 0.00021
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171
Single allele rs1556502214
UGT1A1*28 rs3064744

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