ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Mayo Clinic Laboratories, Mayo Clinic and "likely benign" from any submitter

Minimum review status of the submission from Mayo Clinic Laboratories, Mayo Clinic: Collection method of the submission from Mayo Clinic Laboratories, Mayo Clinic:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP gnomAD frequency
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) rs34526199 0.02732
NM_003126.4(SPTA1):c.2373C>A (p.Asp791Glu) rs7418956 0.01431
NM_000504.4(F10):c.424G>A (p.Glu142Lys) rs61753266 0.00347
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_000204.5(CFI):c.355G>A (p.Gly119Arg) rs141853578 0.00040
NM_001358921.2(COQ2):c.138dup (p.Ala47fs) rs759310292
NM_032588.4(TRIM63):c.739C>T (p.Gln247Ter) rs148395034
Single allele

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