ClinVar Miner

List of variants in gene PNKP reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 3
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NM_007254.4(PNKP):c.1395_1399dup (p.Thr467delinsArgTer) rs1443873131
NM_007254.4(PNKP):c.579-4G>A rs371834726
NM_007254.4(PNKP):c.763G>A (p.Ala255Thr) rs398124249

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