ClinVar Miner

Variants in gene PC 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: 10
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HGVS dbSNP gnomAD frequency
NM_001040716.2(PC):c.786G>T (p.Glu262Asp) rs200030109 0.00015
NM_001040716.2(PC):c.806G>A (p.Arg269Gln) rs1349343839 0.00001
NM_001040716.2(PC):c.1185+5_1185+8del rs748620956
NM_001040716.2(PC):c.1717G>A (p.Ala573Thr) rs796052029
NM_001040716.2(PC):c.1825+1G>A rs1565214970
NM_001040716.2(PC):c.1876C>T (p.Arg626Trp) rs1591122325
NM_001040716.2(PC):c.2606G>A (p.Gly869Asp) rs1555015018
NM_001040716.2(PC):c.584C>T (p.Ala195Val) rs1436643226
NM_001040716.2(PC):c.788G>A (p.Arg263Gln) rs769177104
NM_001040716.2(PC):c.796T>G (p.Ser266Ala) rs113994142

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