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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HGVS dbSNP
NM_006031.5(PCNT):c.1843C>T (p.Gln615Ter) rs777830265
NM_006031.5(PCNT):c.2984_2994delCAGACTTTGAG (p.Ala995Glyfs) rs587784302
NM_006031.5(PCNT):c.3109G>T (p.Glu1037Ter) rs119479063
NM_006031.5(PCNT):c.398delT (p.Phe133Serfs) rs1131691484
NM_006031.5(PCNT):c.6366_6367delAT (p.Ser2123Thrfs) rs1064793985
NM_006031.5(PCNT):c.7819C>T (p.Arg2607Ter) rs749426946
NM_006031.5(PCNT):c.9535dupG (p.Val3179Glyfs) rs747058622

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