ClinVar Miner

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

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP
NM_000317.3(PTS):c.166G>A (p.Val56Met) rs104894277
NM_000317.3(PTS):c.166GTG[1] (p.Val57del) rs770387277
NM_000317.3(PTS):c.186+1G>T rs1256819927
NM_000317.3(PTS):c.238A>G (p.Met80Val) rs1057517810
NM_000317.3(PTS):c.260C>T (p.Pro87Leu) rs765406631
NM_000317.3(PTS):c.297C>A (p.Tyr99Ter) rs145882709
NM_000317.3(PTS):c.317C>T (p.Thr106Met) rs200712908
NM_000317.3(PTS):c.393del (p.Val132fs) rs780332520
NM_000317.3(PTS):c.73C>G (p.Arg25Gly) rs1167104933
NM_000317.3(PTS):c.84-3C>G rs1230781262

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