ClinVar Miner

List of variants in gene POGZ reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_015100.4(POGZ):c.1788A>G (p.Gln596=) rs144945886 0.00205
NM_015100.4(POGZ):c.3297G>A (p.Glu1099=) rs116755407 0.00123
NM_015100.4(POGZ):c.753C>T (p.Ser251=) rs142434646 0.00109
NM_015100.4(POGZ):c.4089T>G (p.His1363Gln) rs142860188 0.00106
NM_015100.4(POGZ):c.222C>T (p.Ser74=) rs145999381 0.00086
NM_015100.4(POGZ):c.2669C>T (p.Ala890Val) rs141251585 0.00071
NM_015100.4(POGZ):c.747C>T (p.Thr249=) rs148175159 0.00034
NM_015100.4(POGZ):c.3117C>T (p.Arg1039=) rs371361212 0.00011
NM_015100.4(POGZ):c.2451C>T (p.Cys817=) rs778929923 0.00008
NM_015100.4(POGZ):c.2241C>T (p.Val747=) rs371817876 0.00003
NM_015100.4(POGZ):c.130G>A (p.Val44Met) rs752798900 0.00001
NM_015100.4(POGZ):c.831G>T (p.Gln277His) rs151243063 0.00001
NM_015100.4(POGZ):c.2626C>T (p.Pro876Ser)
NM_015100.4(POGZ):c.2670G>A (p.Ala890=)
NM_015100.4(POGZ):c.3372T>G (p.Ala1124=) rs377244597
NM_015100.4(POGZ):c.358A>G (p.Met120Val)
NM_015100.4(POGZ):c.456G>A (p.Thr152=)

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