List of variants studied for complex neurodevelopmental disorder by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 11

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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_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys)	rs45608240	0.00391
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_005249.5(FOXG1):c.447C>T (p.Ala149=)	rs112803404	0.00126
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.538C>A (p.Arg180Ser)	rs3739185

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