ClinVar Miner

Variants in gene PTS with conflicting interpretations "likely pathogenic" and "uncertain significance"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP
NM_000317.3(PTS):c.347A>G (p.Asp116Gly) rs104894279
NM_000317.3(PTS):c.370G>T (p.Val124Leu) rs150726932
NM_000317.3(PTS):c.400G>T (p.Glu134Ter) rs779681799
NM_000317.3(PTS):c.83+1G>A rs927103678

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