ClinVar Miner

Variants with conflicting interpretations "pathogenic" from MAGI's Lab - Research, MAGI Group and "likely pathogenic" from any submitter

Minimum review status of the submission from MAGI's Lab - Research, MAGI Group: Collection method of the submission from MAGI's Lab - Research, MAGI Group:
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_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000459.5(TEK):c.2743C>T (p.Arg915Cys) rs1825682922
NM_000459.5(TEK):c.2753G>A (p.Arg918His) rs1554701458
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) rs121913274
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) rs587776932
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279

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