ClinVar Miner

List of variants in gene POGZ reported as likely benign by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 71
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015100.4(POGZ):c.3237C>T (p.His1079=) rs149003420 0.00605
NM_015100.4(POGZ):c.1788A>G (p.Gln596=) rs144945886 0.00205
NM_015100.4(POGZ):c.2634C>G (p.Ser878=) rs138843201 0.00146
NM_015100.4(POGZ):c.2913G>A (p.Glu971=) rs113903415 0.00143
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.1104C>T (p.Asp368=) rs557650703 0.00078
NM_015100.4(POGZ):c.2310C>T (p.Tyr770=) rs142133690 0.00054
NM_015100.4(POGZ):c.747C>T (p.Thr249=) rs148175159 0.00034
NM_015100.4(POGZ):c.2493C>G (p.Ala831=) rs149634988 0.00019
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.1446C>T (p.Ala482=) rs774407231 0.00004
NM_015100.4(POGZ):c.1062T>A (p.Pro354=) rs747684909 0.00003
NM_015100.4(POGZ):c.1186-4A>G rs201321619 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.4206A>T (p.Glu1402Asp) rs182719075 0.00003
NM_015100.4(POGZ):c.1548C>T (p.His516=) rs780830514 0.00002
NM_015100.4(POGZ):c.2949T>C (p.Phe983=) rs751373067 0.00002
NM_015100.4(POGZ):c.582G>A (p.Gln194=) rs1218050731 0.00002
NM_015100.4(POGZ):c.195C>G (p.Leu65=) rs929723554 0.00001
NM_015100.4(POGZ):c.2275G>A (p.Glu759Lys) rs749648996 0.00001
NM_015100.4(POGZ):c.2433-3T>C rs745815582 0.00001
NM_015100.4(POGZ):c.3373A>G (p.Ile1125Val) rs760211123 0.00001
NM_015100.4(POGZ):c.1011G>A (p.Val337=)
NM_015100.4(POGZ):c.1028G>A (p.Ser343Asn)
NM_015100.4(POGZ):c.1068T>C (p.Ser356=)
NM_015100.4(POGZ):c.1381G>A (p.Val461Ile)
NM_015100.4(POGZ):c.149C>T (p.Ser50Leu)
NM_015100.4(POGZ):c.150G>A (p.Ser50=)
NM_015100.4(POGZ):c.1575G>A (p.Glu525=)
NM_015100.4(POGZ):c.1629C>T (p.Phe543=) rs1557900005
NM_015100.4(POGZ):c.1722A>G (p.Leu574=)
NM_015100.4(POGZ):c.2040G>A (p.Glu680=)
NM_015100.4(POGZ):c.2131G>A (p.Ala711Thr)
NM_015100.4(POGZ):c.2151G>A (p.Pro717=)
NM_015100.4(POGZ):c.2157CTC[1] (p.Ser721del) rs769721111
NM_015100.4(POGZ):c.2189A>G (p.Tyr730Cys)
NM_015100.4(POGZ):c.223G>A (p.Gly75Arg)
NM_015100.4(POGZ):c.2746A>T (p.Thr916Ser)
NM_015100.4(POGZ):c.2772G>T (p.Pro924=)
NM_015100.4(POGZ):c.2789C>T (p.Pro930Leu) rs145570114
NM_015100.4(POGZ):c.3002G>A (p.Arg1001Gln)
NM_015100.4(POGZ):c.3057G>A (p.Glu1019=)
NM_015100.4(POGZ):c.3192G>A (p.Gly1064=)
NM_015100.4(POGZ):c.3313A>G (p.Ile1105Val)
NM_015100.4(POGZ):c.3357G>A (p.Leu1119=)
NM_015100.4(POGZ):c.3480C>A (p.Val1160=)
NM_015100.4(POGZ):c.3574C>G (p.Leu1192Val)
NM_015100.4(POGZ):c.3662G>A (p.Arg1221His)
NM_015100.4(POGZ):c.3813T>C (p.Thr1271=)
NM_015100.4(POGZ):c.3931G>A (p.Val1311Ile)
NM_015100.4(POGZ):c.3975G>A (p.Val1325=)
NM_015100.4(POGZ):c.3996C>T (p.Pro1332=)
NM_015100.4(POGZ):c.4020A>G (p.Thr1340=)
NM_015100.4(POGZ):c.4088A>G (p.His1363Arg) rs556553243
NM_015100.4(POGZ):c.4092T>G (p.Ser1364=)
NM_015100.4(POGZ):c.4104T>A (p.Thr1368=) rs1571294
NM_015100.4(POGZ):c.4135A>G (p.Ile1379Val)
NM_015100.4(POGZ):c.4202A>T (p.Glu1401Val)
NM_015100.4(POGZ):c.4230T>A (p.Ile1410=)
NM_015100.4(POGZ):c.546T>C (p.Val182=)
NM_015100.4(POGZ):c.561A>G (p.Leu187=)
NM_015100.4(POGZ):c.567A>G (p.Pro189=)
NM_015100.4(POGZ):c.574G>A (p.Gly192Ser)
NM_015100.4(POGZ):c.734A>G (p.Gln245Arg)
NM_015100.4(POGZ):c.739C>G (p.Gln247Glu)
NM_015100.4(POGZ):c.772A>G (p.Thr258Ala)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.