ClinVar Miner

List of variants studied for Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome by MGZ Medical Genetics Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_015100.4(POGZ):c.1064A>T (p.Glu355Val) rs2529496414
NM_015100.4(POGZ):c.3424C>T (p.Arg1142Ter) rs773311942
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs) rs869320764

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