ClinVar Miner

Variants in gene PCNT 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: 27
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HGVS dbSNP
NM_006031.6(PCNT):c.1040A>G (p.Lys347Arg) rs80166001
NM_006031.6(PCNT):c.1246A>G (p.Ile416Val) rs368199588
NM_006031.6(PCNT):c.1943C>G (p.Pro648Arg) rs752992538
NM_006031.6(PCNT):c.2033A>G (p.Lys678Arg) rs149623054
NM_006031.6(PCNT):c.2575G>A (p.Asp859Asn) rs115369710
NM_006031.6(PCNT):c.2610-8T>C rs377164652
NM_006031.6(PCNT):c.2833C>T (p.Arg945Cys) rs147358856
NM_006031.6(PCNT):c.405C>T (p.Val135=) rs371917839
NM_006031.6(PCNT):c.406G>A (p.Gly136Ser) rs59183158
NM_006031.6(PCNT):c.4140G>A (p.Ala1380=) rs372175239
NM_006031.6(PCNT):c.4571C>G (p.Pro1524Arg) rs35513449
NM_006031.6(PCNT):c.5074G>A (p.Val1692Ile) rs113342730
NM_006031.6(PCNT):c.5940C>T (p.Gly1980=) rs150436577
NM_006031.6(PCNT):c.5954C>T (p.Ser1985Phe) rs140398533
NM_006031.6(PCNT):c.6635G>A (p.Arg2212Gln) rs201503338
NM_006031.6(PCNT):c.6819G>A (p.Gly2273=) rs200610141
NM_006031.6(PCNT):c.6876C>T (p.Ala2292=) rs761995771
NM_006031.6(PCNT):c.688C>T (p.Arg230Cys) rs143560718
NM_006031.6(PCNT):c.6933C>T (p.Val2311=) rs148444313
NM_006031.6(PCNT):c.7180-8C>T rs143511166
NM_006031.6(PCNT):c.7300C>A (p.Leu2434Ile) rs112633352
NM_006031.6(PCNT):c.7332C>T (p.Thr2444=) rs150882711
NM_006031.6(PCNT):c.7459C>G (p.Leu2487Val) rs201185279
NM_006031.6(PCNT):c.7803G>A (p.Ala2601=) rs144869229
NM_006031.6(PCNT):c.8646G>C (p.Leu2882Phe) rs141771795
NM_006031.6(PCNT):c.8889G>A (p.Ser2963=) rs151325202
NM_006031.6(PCNT):c.9707G>A (p.Arg3236Gln) rs113591604

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