ClinVar Miner

List of variants in gene POGZ reported by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Gene type:
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_015100.4(POGZ):c.1252C>A (p.Pro418Thr) rs1277299979
NM_015100.4(POGZ):c.1685G>A (p.Cys562Tyr) rs1654829470
NM_015100.4(POGZ):c.2771del (p.Pro924fs) rs1553212868
NM_015100.4(POGZ):c.402_409dup (p.His137fs) rs1057518799

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