ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Laboratory of Medical Genetics, University of Torino and "likely pathogenic" from any submitter

Minimum review status of the submission from Laboratory of Medical Genetics, University of Torino: Collection method of the submission from Laboratory of Medical Genetics, University of Torino:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_015909.4(NBAS):c.1501C>T (p.Arg501Ter) rs759960319 0.00001
NM_001080517.3(SETD5):c.3855dup (p.Ser1286fs) rs1553641476
NM_001101.5(ACTB):c.589G>A (p.Gly197Ser) rs1554329317
NM_001110792.2(MECP2):c.953G>A (p.Arg318His) rs61751443
NM_001372044.2(SHANK3):c.3952dup (p.Gln1318fs)
NM_003482.4(KMT2D):c.4395dup (p.Lys1466fs) rs1555195118
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
NM_005324.5(H3-3B):c.377A>G (p.Gln126Arg) rs2143629984
NM_006852.6(TLK2):c.1586A>G (p.Asp529Gly) rs2082811958
NM_014023.4(WDR37):c.356C>T (p.Ser119Phe) rs1589088690
NM_014141.6(CNTNAP2):c.1777+2T>C
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln) rs886039764

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