ClinVar Miner

List of variants studied for Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_015100.4(POGZ):c.1053del (p.Ser352fs) rs2529496737
NM_015100.4(POGZ):c.1135C>T (p.Arg379Ter) rs1657533128
NM_015100.4(POGZ):c.1607dup (p.Tyr536Ter)
NM_015100.4(POGZ):c.2022dup (p.Lys675Ter) rs2529247930

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