List of variants in gene POGZ reported as likely benign for Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 35

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HGVS	dbSNP	gnomAD frequency
NM_015100.4(POGZ):c.3237C>T (p.His1079=)	rs149003420	0.00601
NM_015100.4(POGZ):c.357A>G (p.Thr119=)	rs145173739	0.00547
NM_015100.4(POGZ):c.1788A>G (p.Gln596=)	rs144945886	0.00205
NM_015100.4(POGZ):c.2913G>A (p.Glu971=)	rs113903415	0.00143
NM_015100.4(POGZ):c.2634C>G (p.Ser878=)	rs138843201	0.00133
NM_015100.4(POGZ):c.3297G>A (p.Glu1099=)	rs116755407	0.00114
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	0.00083
NM_015100.4(POGZ):c.2669C>T (p.Ala890Val)	rs141251585	0.00071
NM_015100.4(POGZ):c.2559A>G (p.Ile853Met)	rs150453554	0.00058
NM_015100.4(POGZ):c.2310C>T (p.Tyr770=)	rs142133690	0.00054
NM_015100.4(POGZ):c.70G>A (p.Val24Ile)	rs144510238	0.00038
NM_015100.4(POGZ):c.747C>T (p.Thr249=)	rs148175159	0.00034
NM_015100.4(POGZ):c.1104C>T (p.Asp368=)	rs557650703	0.00025
NM_015100.4(POGZ):c.2493C>G (p.Ala831=)	rs149634988	0.00021
NM_015100.4(POGZ):c.1557C>T (p.Leu519=)	rs141026698	0.00018
NM_015100.4(POGZ):c.3863C>T (p.Ala1288Val)	rs149655055	0.00016
NM_015100.4(POGZ):c.2451C>T (p.Cys817=)	rs778929923	0.00008
NM_015100.4(POGZ):c.3279A>T (p.Leu1093=)	rs567756416	0.00004
NM_015100.4(POGZ):c.1062T>A (p.Pro354=)	rs747684909	0.00003
NM_015100.4(POGZ):c.1072A>G (p.Met358Val)	rs574158925	0.00003
NM_015100.4(POGZ):c.1623T>C (p.Thr541=)	rs770222629	0.00003
NM_015100.4(POGZ):c.3129A>G (p.Leu1043=)	rs559229661	0.00003
NM_015100.4(POGZ):c.1313C>A (p.Ser438Tyr)	rs749899018	0.00002
NM_015100.4(POGZ):c.1548C>T (p.His516=)	rs780830514	0.00002
NM_015100.4(POGZ):c.2040G>A (p.Glu680=)	rs181887130	0.00002
NM_015100.4(POGZ):c.1186-4A>G	rs201321619	0.00001
NM_015100.4(POGZ):c.2433-3T>C	rs745815582	0.00001
NM_015100.4(POGZ):c.4206A>T (p.Glu1402Asp)	rs182719075	0.00001
NM_015100.4(POGZ):c.2157CTC[1] (p.Ser721del)	rs769721111
NM_015100.4(POGZ):c.2789C>G (p.Pro930Arg)	rs145570114
NM_015100.4(POGZ):c.2789C>T (p.Pro930Leu)	rs145570114
NM_015100.4(POGZ):c.4104T>A (p.Thr1368=)	rs1571294
NM_015100.4(POGZ):c.4219C>A (p.Leu1407Met)	rs2529189605

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