ClinVar Miner

List of variants in gene PNKP reported by Genome Diagnostics Laboratory,University Medical Center Utrecht

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Total variants: 7
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HGVS dbSNP
NM_007254.4(PNKP):c.1029+2T>C rs199919568
NM_007254.4(PNKP):c.1127-8C>T rs3739203
NM_007254.4(PNKP):c.1189-10del rs3739205
NM_007254.4(PNKP):c.188C>T (p.Ala63Val) rs3739173
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser) rs3739168
NM_007254.4(PNKP):c.783G>A (p.Pro261=) rs145307985

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