ClinVar Miner

List of variants in gene PNKP reported as benign by DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center

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Gene type:
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Total variants: 4
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HGVS dbSNP
NM_007254.4(PNKP):c.1127-8C>T rs3739203
NM_007254.4(PNKP):c.1189-10del rs3739205
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser) rs3739168

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