ClinVar Miner

List of variants in gene PNKP reported as likely benign for not provided

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Total variants: 14
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HGVS dbSNP
NC_000019.10:g.49865435_49865436del
NM_007254.4(PNKP):c.1029+16G>A
NM_007254.4(PNKP):c.1062C>T (p.Leu354=) rs142830558
NM_007254.4(PNKP):c.1127-12C>T
NM_007254.4(PNKP):c.1188+47C>T
NM_007254.4(PNKP):c.1189-10G>A
NM_007254.4(PNKP):c.1189-22_1189-19del rs368832563
NM_007254.4(PNKP):c.1298+20G>T
NM_007254.4(PNKP):c.498+233G>T
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.744+81G>A
NM_007254.4(PNKP):c.745-99C>A
NM_007254.4(PNKP):c.817-254G>A

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