ClinVar Miner

List of variants in gene PNKP reported as likely benign by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

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Gene type:
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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_007254.4(PNKP):c.586T>A (p.Tyr196Asn) rs3739186 0.01081
NM_007254.4(PNKP):c.1189-22_1189-19del rs368832563
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185

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