ClinVar Miner

List of variants in gene PCNT reported as pathogenic by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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NM_006031.6(PCNT):c.1468C>T (p.Gln490Ter) rs181690344
NM_006031.6(PCNT):c.1680-2A>G rs1555954786
NM_006031.6(PCNT):c.1714_1717del (p.Lys572fs) rs797045875
NM_006031.6(PCNT):c.1975dup (p.Asp659fs) rs1555956600
NM_006031.6(PCNT):c.2984_2994del (p.Ala995fs) rs587784302
NM_006031.6(PCNT):c.3058A>T (p.Lys1020Ter) rs1555962301
NM_006031.6(PCNT):c.3880G>T (p.Glu1294Ter) rs1359618876
NM_006031.6(PCNT):c.4934_4935AG[2] (p.Arg1646fs) rs797045879
NM_006031.6(PCNT):c.5020G>T (p.Glu1674Ter) rs587784308
NM_006031.6(PCNT):c.5482G>T (p.Glu1828Ter) rs1315359733
NM_006031.6(PCNT):c.5578G>T (p.Glu1860Ter) rs369195346
NM_006031.6(PCNT):c.5727_5736del (p.Leu1910fs) rs587784312
NM_006031.6(PCNT):c.5767C>T (p.Arg1923Ter) rs119479062
NM_006031.6(PCNT):c.5992C>T (p.Gln1998Ter) rs757577162
NM_006031.6(PCNT):c.7796del (p.Leu2599fs) rs587784319
NM_006031.6(PCNT):c.8868dup (p.Ala2957fs) rs587784320
NM_006031.6(PCNT):c.8917C>T (p.Arg2973Ter) rs587784321

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