ClinVar Miner

Variants with conflicting interpretations "benign" from Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen and "other" from any submitter

Minimum review status of the submission from Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen: Collection method of the submission from Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607 0.49946
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_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_000041.2(APOE):c.526C>T (p.Arg176Cys) rs7412 0.07986
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120

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