ClinVar Miner

List of variants reported as likely pathogenic for Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome by Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_015100.4(POGZ):c.62del (p.Ile21fs)	rs1660633733
NM_015100.4(POGZ):c.64del (p.Ser22fs)	rs2102370816
NM_015100.4(POGZ):c.692del (p.Ile231fs)	rs1658105150

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