List of variants reported as uncertain significance for Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome by Genome-Nilou Lab

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_015100.4(POGZ):c.1850G>A (p.Arg617Gln)	rs72996036	0.00013
NM_015100.4(POGZ):c.3607G>A (p.Glu1203Lys)	rs756483529	0.00004
NM_015100.4(POGZ):c.1426C>T (p.Arg476Trp)	rs267598016	0.00002
NM_015100.4(POGZ):c.4026T>G (p.Asn1342Lys)	rs778409159	0.00001
NM_015100.4(POGZ):c.1685G>A (p.Cys562Tyr)	rs1654829470
NM_015100.4(POGZ):c.2197G>A (p.Val733Ile)	rs541476793
NM_015100.4(POGZ):c.2576_2599del (p.Gly859_His866del)	rs1653635853
NM_015100.4(POGZ):c.4165G>C (p.Glu1389Gln)	rs2529190447
NM_015100.4(POGZ):c.634G>A (p.Val212Met)	rs1553226286

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