ClinVar Miner

List of variants in gene PCNT reported as pathogenic by GeneDx

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Gene type:
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Total variants: 7
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NM_006031.6(PCNT):c.1843C>T (p.Gln615Ter) rs777830265
NM_006031.6(PCNT):c.2984_2994del (p.Ala995fs) rs587784302
NM_006031.6(PCNT):c.3109G>T (p.Glu1037Ter) rs119479063
NM_006031.6(PCNT):c.398del (p.Phe133fs) rs1131691484
NM_006031.6(PCNT):c.6364_6365AT[1] (p.Ser2123fs) rs1064793985
NM_006031.6(PCNT):c.7819C>T (p.Arg2607Ter) rs749426946
NM_006031.6(PCNT):c.9535dup (p.Val3179fs) rs747058622

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