ClinVar Miner

List of variants studied for Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome by Pediatric Department, Xiangya Hospital, Central South University

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_015100.4(POGZ):c.1277dup (p.Pro426_Glu427insTer) rs869320763
NM_015100.4(POGZ):c.1606dup (p.Tyr536fs) rs2529426630

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