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

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_015100.4(POGZ):c.1180_1181del (p.Met394fs)	rs1057518170
NM_015100.4(POGZ):c.1522C>T (p.Arg508Ter)	rs1557901051
NM_015100.4(POGZ):c.1608C>A (p.Tyr536Ter)	rs1553223544
NM_015100.4(POGZ):c.2092C>T (p.Arg698Ter)	rs1654081712
NM_015100.4(POGZ):c.2321_2324del (p.Ser774fs)	rs864321671
NM_015100.4(POGZ):c.2350C>T (p.Arg784Ter)	rs886041669
NM_015100.4(POGZ):c.2646_2647del (p.Asn882fs)	rs1553213060
NM_015100.4(POGZ):c.2935C>T (p.Arg979Ter)	rs864321674
NM_015100.4(POGZ):c.3001C>T (p.Arg1001Ter)	rs869312833
NM_015100.4(POGZ):c.712C>T (p.Arg238Ter)	rs1557910873

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