List of variants in gene PNKP reported by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_007254.4(PNKP):c.1189-10del	rs3739205	0.02593
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser)	rs3739168	0.00946
NM_007254.4(PNKP):c.1127-8C>T	rs3739203	0.00901
NM_007254.4(PNKP):c.783G>A (p.Pro261=)	rs145307985	0.00353
NM_007254.4(PNKP):c.939T>C (p.Phe313=)	rs149731642	0.00290
NM_007254.4(PNKP):c.579G>A (p.Arg193=)	rs145904995	0.00205
NM_007254.4(PNKP):c.831G>A (p.Thr277=)	rs148491228	0.00128
NM_007254.4(PNKP):c.1029+2T>C	rs199919568	0.00115
NM_007254.4(PNKP):c.188C>T (p.Ala63Val)	rs3739173	0.00047
NM_007254.4(PNKP):c.672C>T (p.Arg224=)	rs151180981	0.00046
NM_007254.4(PNKP):c.-13-8C>T	rs561195653	0.00007
NM_007254.4(PNKP):c.817-12C>T	rs369567366	0.00003
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs)	rs587784365
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met)	rs200611702
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser)	rs3739185

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