ClinVar Miner

Variants in gene PPT1 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP gnomAD frequency
NM_000310.4(PPT1):c.904A>G (p.Ile302Val) rs146902902 0.00091
NM_000310.4(PPT1):c.*6G>A rs113082671 0.00006
NM_000310.4(PPT1):c.234+7C>T rs200777536 0.00004
NM_000310.4(PPT1):c.282A>G (p.Thr94=) rs753828114 0.00003
NM_000310.4(PPT1):c.537-12T>C rs1057515556 0.00002
NM_000310.4(PPT1):c.12C>T (p.Pro4=) rs140289866 0.00001
NM_000310.4(PPT1):c.234+8G>A rs746750426
NM_000310.4(PPT1):c.690C>T (p.Phe230=) rs1648754113
NM_000310.4(PPT1):c.705T>C (p.Ile235=) rs1057515448
NM_000310.4(PPT1):c.894T>C (p.Tyr298=) rs781759073

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