List of variants studied for Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_003622.4(PPFIBP1):c.2053G>C (p.Gly685Arg)	rs200119939	0.00001
NM_003622.4(PPFIBP1):c.2413C>T (p.Arg805Ter)	rs146185523	0.00001
NM_003622.4(PPFIBP1):c.1146+1G>A	rs2059916812
NM_003622.4(PPFIBP1):c.1368_1369del (p.Glu456fs)	rs2140228979
NM_003622.4(PPFIBP1):c.1468C>T (p.Gln490Ter)	rs2140279716
NM_003622.4(PPFIBP1):c.170del (p.Gly57fs)	rs2543706043
NM_003622.4(PPFIBP1):c.2012C>T (p.Thr671Met)
NM_003622.4(PPFIBP1):c.2654del (p.Tyr885fs)	rs2140520299
NM_003622.4(PPFIBP1):c.358-2_358-1delinsCC	rs2544259795
NM_003622.4(PPFIBP1):c.403C>T (p.Arg135Ter)	rs143847599
NM_003622.4(PPFIBP1):c.850G>A (p.Glu284Lys)

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