ClinVar Miner

List of variants reported for Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_015100.4(POGZ):c.245C>G (p.Thr82Arg) rs2529678767
NM_015100.4(POGZ):c.263C>G (p.Thr88Arg) rs2529678334
NM_015100.4(POGZ):c.2989C>T (p.Arg997Ter) rs1553212545
NM_015100.4(POGZ):c.3564C>A (p.Asp1188Glu)

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