ClinVar Miner

List of variants studied for Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_015100.4(POGZ):c.1180_1181del (p.Met394fs) rs1057518170
NM_015100.4(POGZ):c.2545+1G>C
NM_015100.4(POGZ):c.2914C>T (p.Gln972Ter) rs1557866540
NM_015100.4(POGZ):c.529C>T (p.Gln177Ter)
NM_015100.4(POGZ):c.615_616del (p.Phe206fs)

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