List of variants reported as uncertain significance for Microcephaly, seizures, and developmental delay by Genetic Services Laboratory, University of Chicago

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_007254.4(PNKP):c.*15C>T	rs1050332	0.00609
NM_007254.4(PNKP):c.1522G>A (p.Glu508Lys)	rs146478958	0.00270
NM_007254.4(PNKP):c.188C>T (p.Ala63Val)	rs3739173	0.00047
NM_007254.4(PNKP):c.876A>G (p.Gly292=)	rs3739199	0.00033
NM_007254.4(PNKP):c.671G>A (p.Arg224His)	rs199705876	0.00025
NM_007254.4(PNKP):c.1126+9C>T	rs3739202	0.00022
NM_007254.4(PNKP):c.579-4G>A	rs371834726	0.00011
NM_007254.4(PNKP):c.994C>T (p.Pro332Ser)	rs373922574	0.00010
NM_007254.4(PNKP):c.151+18T>G	rs55756709	0.00009
NM_007254.4(PNKP):c.861G>C (p.Val287=)	rs75203375	0.00007
NM_007254.4(PNKP):c.302C>T (p.Pro101Leu)	rs587784367	0.00001
NM_007254.4(PNKP):c.744+8T>C	rs587784370	0.00001
NM_007254.4(PNKP):c.1319C>G (p.Ala440Gly)	rs377688490
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln)	rs376854895
NM_007254.4(PNKP):c.1482C>A (p.Gly494=)	rs60279874
NM_007254.4(PNKP):c.457T>C (p.Leu153=)	rs587784368
NM_007254.4(PNKP):c.666C>T (p.Ile222=)	rs587784369

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