ClinVar Miner

List of variants in gene POGZ studied for Inborn genetic diseases

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Gene type:
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Total variants: 154
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HGVS dbSNP gnomAD frequency
NM_015100.4(POGZ):c.4104T>G (p.Thr1368=) rs1571294 0.10973
NM_015100.4(POGZ):c.4095G>T (p.Glu1365Asp) rs35198305 0.01770
NM_015100.4(POGZ):c.930A>G (p.Thr310=) rs115103475 0.01595
NM_015100.4(POGZ):c.3237C>T (p.His1079=) rs149003420 0.00605
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.860-5C>T rs144435581 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.2669C>T (p.Ala890Val) rs141251585 0.00071
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.1505G>A (p.Arg502Lys) rs146816269 0.00026
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.1850G>A (p.Arg617Gln) rs72996036 0.00015
NM_015100.4(POGZ):c.2005C>T (p.His669Tyr) rs777799994 0.00012
NM_015100.4(POGZ):c.407A>G (p.Asn136Ser) rs141132016 0.00009
NM_015100.4(POGZ):c.757C>T (p.Pro253Ser) rs926772662 0.00009
NM_015100.4(POGZ):c.2451C>T (p.Cys817=) rs778929923 0.00008
NM_015100.4(POGZ):c.3646C>T (p.His1216Tyr) rs201333468 0.00006
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.1808C>G (p.Ser603Cys) rs753941954 0.00002
NM_015100.4(POGZ):c.2949T>C (p.Phe983=) rs751373067 0.00002
NM_015100.4(POGZ):c.3254C>T (p.Ala1085Val) rs767650742 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.3287A>T (p.Asp1096Val) rs1451251734 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.1014G>A (p.Val338=)
NM_015100.4(POGZ):c.1015G>A (p.Val339Met)
NM_015100.4(POGZ):c.1028G>A (p.Ser343Asn)
NM_015100.4(POGZ):c.1068T>C (p.Ser356=)
NM_015100.4(POGZ):c.1079-3C>G
NM_015100.4(POGZ):c.1097T>A (p.Val366Glu)
NM_015100.4(POGZ):c.1112A>G (p.Asp371Gly) rs1557903928
NM_015100.4(POGZ):c.1186-5T>C
NM_015100.4(POGZ):c.1357C>G (p.Pro453Ala) rs1433388035
NM_015100.4(POGZ):c.1381G>A (p.Val461Ile)
NM_015100.4(POGZ):c.1471G>A (p.Ala491Thr)
NM_015100.4(POGZ):c.149C>T (p.Ser50Leu)
NM_015100.4(POGZ):c.150G>A (p.Ser50=)
NM_015100.4(POGZ):c.1522C>T (p.Arg508Ter) rs1557901051
NM_015100.4(POGZ):c.1575G>A (p.Glu525=)
NM_015100.4(POGZ):c.1629C>T (p.Phe543=) rs1557900005
NM_015100.4(POGZ):c.162C>T (p.Pro54=)
NM_015100.4(POGZ):c.1722A>G (p.Leu574=)
NM_015100.4(POGZ):c.1807dup (p.Ser603fs)
NM_015100.4(POGZ):c.1910A>G (p.His637Arg) rs1553216421
NM_015100.4(POGZ):c.1990G>A (p.Glu664Lys)
NM_015100.4(POGZ):c.2040G>A (p.Glu680=)
NM_015100.4(POGZ):c.2061+4_2061+5del rs749025678
NM_015100.4(POGZ):c.2071C>T (p.Arg691Trp)
NM_015100.4(POGZ):c.2092C>T (p.Arg698Ter) rs1654081712
NM_015100.4(POGZ):c.2101C>G (p.Pro701Ala) rs1557873361
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.2161T>C (p.Ser721Pro)
NM_015100.4(POGZ):c.2189A>G (p.Tyr730Cys)
NM_015100.4(POGZ):c.2224G>A (p.Val742Ile)
NM_015100.4(POGZ):c.223G>A (p.Gly75Arg)
NM_015100.4(POGZ):c.2309dup (p.Tyr770Ter)
NM_015100.4(POGZ):c.2426C>A (p.Ser809Tyr)
NM_015100.4(POGZ):c.2459G>A (p.Cys820Tyr) rs1557870105
NM_015100.4(POGZ):c.2467G>C (p.Val823Leu)
NM_015100.4(POGZ):c.2488A>G (p.Met830Val)
NM_015100.4(POGZ):c.2504T>G (p.Val835Gly)
NM_015100.4(POGZ):c.2648A>G (p.Lys883Arg)
NM_015100.4(POGZ):c.2699T>G (p.Leu900Arg)
NM_015100.4(POGZ):c.2712dup (p.Ala905fs) rs1553212978
NM_015100.4(POGZ):c.2729C>A (p.Ser910Ter) rs1313319892
NM_015100.4(POGZ):c.2729C>T (p.Ser910Leu)
NM_015100.4(POGZ):c.2746A>T (p.Thr916Ser)
NM_015100.4(POGZ):c.2772G>T (p.Pro924=)
NM_015100.4(POGZ):c.2780dup (p.Leu927fs) rs864321675
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.2812G>A (p.Glu938Lys)
NM_015100.4(POGZ):c.2883dup (p.Gly962fs) rs1553212626
NM_015100.4(POGZ):c.2935C>T (p.Arg979Ter) rs864321674
NM_015100.4(POGZ):c.2968G>C (p.Glu990Gln)
NM_015100.4(POGZ):c.2989C>G (p.Arg997Gly)
NM_015100.4(POGZ):c.2989C>T (p.Arg997Ter) rs1553212545
NM_015100.4(POGZ):c.3002G>A (p.Arg1001Gln)
NM_015100.4(POGZ):c.3032A>G (p.Gln1011Arg)
NM_015100.4(POGZ):c.3057G>A (p.Glu1019=)
NM_015100.4(POGZ):c.307G>A (p.Gly103Ser)
NM_015100.4(POGZ):c.3192G>A (p.Gly1064=)
NM_015100.4(POGZ):c.3313A>G (p.Ile1105Val)
NM_015100.4(POGZ):c.3337C>G (p.His1113Asp)
NM_015100.4(POGZ):c.3356T>A (p.Leu1119Ter)
NM_015100.4(POGZ):c.3357G>A (p.Leu1119=)
NM_015100.4(POGZ):c.343_344dup (p.Gly116fs)
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs) rs869320764
NM_015100.4(POGZ):c.3480C>A (p.Val1160=)
NM_015100.4(POGZ):c.3528C>A (p.Tyr1176Ter)
NM_015100.4(POGZ):c.3574C>G (p.Leu1192Val)
NM_015100.4(POGZ):c.3591_3592del (p.Ser1197fs) rs1653397845
NM_015100.4(POGZ):c.3598A>G (p.Ser1200Gly)
NM_015100.4(POGZ):c.3629C>T (p.Thr1210Ile)
NM_015100.4(POGZ):c.3662G>A (p.Arg1221His)
NM_015100.4(POGZ):c.3813T>C (p.Thr1271=)
NM_015100.4(POGZ):c.3862G>T (p.Ala1288Ser)
NM_015100.4(POGZ):c.3863C>A (p.Ala1288Glu)
NM_015100.4(POGZ):c.3887T>C (p.Val1296Ala)
NM_015100.4(POGZ):c.3907G>T (p.Val1303Phe) rs1557863070
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.4017_4019del (p.Thr1340del)
NM_015100.4(POGZ):c.4020A>G (p.Thr1340=)
NM_015100.4(POGZ):c.4026T>G (p.Asn1342Lys)
NM_015100.4(POGZ):c.4088A>G (p.His1363Arg) rs556553243
NM_015100.4(POGZ):c.4092T>G (p.Ser1364=)
NM_015100.4(POGZ):c.4103C>A (p.Thr1368Asn)
NM_015100.4(POGZ):c.4103_4104inv (p.Thr1368Lys)
NM_015100.4(POGZ):c.4104T>A (p.Thr1368=) rs1571294
NM_015100.4(POGZ):c.4135A>G (p.Ile1379Val)
NM_015100.4(POGZ):c.4154A>G (p.His1385Arg) rs1557861908
NM_015100.4(POGZ):c.4165G>C (p.Glu1389Gln)
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.568+2T>C
NM_015100.4(POGZ):c.574G>A (p.Gly192Ser)
NM_015100.4(POGZ):c.649A>G (p.Thr217Ala)
NM_015100.4(POGZ):c.649A>T (p.Thr217Ser)
NM_015100.4(POGZ):c.650C>T (p.Thr217Ile)
NM_015100.4(POGZ):c.652A>G (p.Met218Val)
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)
NM_015100.4(POGZ):c.799C>A (p.Leu267Met)
NM_015100.4(POGZ):c.892A>G (p.Ile298Val)
NM_015100.4(POGZ):c.915G>C (p.Lys305Asn)
NM_015100.4(POGZ):c.982C>A (p.Pro328Thr)

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