ClinVar Miner

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

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Total variants: 6
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HGVS dbSNP
NM_007254.3(PNKP):c.1189-22_1189-19delTTGT rs368832563
NM_007254.4(PNKP):c.265dup (p.Val89fs) rs879255541
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007254.4(PNKP):c.586T>A (p.Tyr196Asn) rs3739186
NM_007254.4(PNKP):c.730G>C (p.Gly244Arg) rs562480894

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