ClinVar Miner

List of variants in gene POGZ studied for developmental disorder of mental health

Included ClinVar conditions (728):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 238
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HGVS dbSNP gnomAD frequency
NM_015100.4(POGZ):c.*30A>G rs6667714 0.97376
NM_015100.4(POGZ):c.1779+39C>T rs3748550 0.82270
NM_015100.4(POGZ):c.-6A>G rs12125310 0.82249
NM_015100.4(POGZ):c.568+34T>C rs6587577 0.80243
NM_015100.4(POGZ):c.4104T>G (p.Thr1368=) rs1571294 0.10973
NM_015100.4(POGZ):c.2235-11T>C rs2025899 0.09308
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.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 0.00040
NM_015100.4(POGZ):c.945T>C (p.Asn315=) rs144073313 0.00037
NM_015100.4(POGZ):c.747C>T (p.Thr249=) rs148175159 0.00034
NM_015100.4(POGZ):c.2235-10T>C rs557225984 0.00026
NM_015100.4(POGZ):c.3024A>G (p.Arg1008=) rs147095604 0.00023
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.2792C>T (p.Pro931Leu) rs373783340 0.00011
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.3279A>T (p.Leu1093=) rs567756416 0.00004
NM_015100.4(POGZ):c.3334A>G (p.Ile1112Val) rs1191231647 0.00004
NM_015100.4(POGZ):c.3607G>A (p.Glu1203Lys) rs756483529 0.00004
NM_015100.4(POGZ):c.3659A>G (p.Gln1220Arg) rs769581210 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.1186-4A>G rs201321619 0.00003
NM_015100.4(POGZ):c.1375G>A (p.Asp459Asn) rs888864913 0.00003
NM_015100.4(POGZ):c.1549G>A (p.Val517Ile) rs754532606 0.00003
NM_015100.4(POGZ):c.1623T>C (p.Thr541=) rs770222629 0.00003
NM_015100.4(POGZ):c.2542C>T (p.Arg848Trp) rs548226228 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.1313C>A (p.Ser438Tyr) rs749899018 0.00002
NM_015100.4(POGZ):c.1426C>T (p.Arg476Trp) rs267598016 0.00002
NM_015100.4(POGZ):c.1427G>A (p.Arg476Gln) rs763820362 0.00002
NM_015100.4(POGZ):c.1548C>T (p.His516=) rs780830514 0.00002
NM_015100.4(POGZ):c.2557A>G (p.Ile853Val) rs749270162 0.00002
NM_015100.4(POGZ):c.2591G>A (p.Arg864Gln) rs753214391 0.00002
NM_015100.4(POGZ):c.3116G>A (p.Arg1039His) rs760059077 0.00002
NM_015100.4(POGZ):c.130G>A (p.Val44Met) rs752798900 0.00001
NM_015100.4(POGZ):c.163A>G (p.Ile55Val) rs768095572 0.00001
NM_015100.4(POGZ):c.1978A>G (p.Lys660Glu) rs1418634444 0.00001
NM_015100.4(POGZ):c.211G>A (p.Val71Ile) rs866632178 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.2608G>A (p.Val870Met) rs772572695 0.00001
NM_015100.4(POGZ):c.3343C>G (p.Gln1115Glu) rs778792467 0.00001
NM_015100.4(POGZ):c.3373A>G (p.Ile1125Val) rs760211123 0.00001
NM_015100.4(POGZ):c.3425G>A (p.Arg1142Gln) rs778651356 0.00001
NM_015100.4(POGZ):c.3559C>T (p.Pro1187Ser) rs202098093 0.00001
NM_015100.4(POGZ):c.3848A>G (p.Gln1283Arg) rs765820329 0.00001
NM_015100.4(POGZ):c.3880T>C (p.Ser1294Pro) rs1484207450 0.00001
NM_015100.4(POGZ):c.4042G>C (p.Glu1348Gln) rs756691187 0.00001
NM_015100.4(POGZ):c.499A>G (p.Met167Val) rs375045125 0.00001
NM_015100.4(POGZ):c.830A>G (p.Gln277Arg) rs561369202 0.00001
NM_015100.4(POGZ):c.942C>G (p.Ser314Arg) rs574335012 0.00001
NM_015100.4(POGZ):c.1053del (p.Ser352fs)
NM_015100.4(POGZ):c.1064A>T (p.Glu355Val)
NM_015100.4(POGZ):c.1078+2T>C
NM_015100.4(POGZ):c.1079-20A>G rs1657541606
NM_015100.4(POGZ):c.1135C>T (p.Arg379Ter) rs1657533128
NM_015100.4(POGZ):c.1180_1181del (p.Met394fs) rs1057518170
NM_015100.4(POGZ):c.118A>G (p.Thr40Ala) rs2102370481
NM_015100.4(POGZ):c.125-1G>T rs1571533545
NM_015100.4(POGZ):c.1252C>A (p.Pro418Thr) rs1277299979
NM_015100.4(POGZ):c.1277dup (p.Pro426_Glu427insTer) rs869320763
NM_015100.4(POGZ):c.1318C>G (p.Pro440Ala) rs1557902023
NM_015100.4(POGZ):c.1368C>A (p.Asn456Lys)
NM_015100.4(POGZ):c.13G>A (p.Asp5Asn) rs1557938084
NM_015100.4(POGZ):c.1417T>C (p.Tyr473His)
NM_015100.4(POGZ):c.1418A>G (p.Tyr473Cys)
NM_015100.4(POGZ):c.1445C>G (p.Ala482Gly) rs1557901347
NM_015100.4(POGZ):c.1522C>T (p.Arg508Ter) rs1557901051
NM_015100.4(POGZ):c.1524-10T>G rs2274534
NM_015100.4(POGZ):c.1524-3C>G rs367963956
NM_015100.4(POGZ):c.1558G>A (p.Asp520Asn)
NM_015100.4(POGZ):c.1606dup (p.Tyr536fs)
NM_015100.4(POGZ):c.1608C>A (p.Tyr536Ter) rs1553223544
NM_015100.4(POGZ):c.166G>A (p.Ala56Thr)
NM_015100.4(POGZ):c.1673dup (p.Thr559fs)
NM_015100.4(POGZ):c.1679-1G>A
NM_015100.4(POGZ):c.1679-3C>G rs376091120
NM_015100.4(POGZ):c.1685G>A (p.Cys562Tyr) rs1654829470
NM_015100.4(POGZ):c.1725del (p.Leu576fs)
NM_015100.4(POGZ):c.1727T>C (p.Leu576Pro) rs1057519392
NM_015100.4(POGZ):c.1748A>G (p.His583Arg) rs1131692270
NM_015100.4(POGZ):c.1810G>T (p.Glu604Ter) rs1135401798
NM_015100.4(POGZ):c.1863C>A (p.Cys621Ter)
NM_015100.4(POGZ):c.1866_1867dup (p.Tyr623fs) rs1553216467
NM_015100.4(POGZ):c.1927-17del rs3831142
NM_015100.4(POGZ):c.1940A>C (p.Tyr647Ser) rs749548928
NM_015100.4(POGZ):c.1948A>C (p.Asn650His) rs1557874046
NM_015100.4(POGZ):c.1A>G (p.Met1Val) rs2102371063
NM_015100.4(POGZ):c.2022dup (p.Lys675Ter)
NM_015100.4(POGZ):c.2040G>A (p.Glu680=)
NM_015100.4(POGZ):c.2092C>T (p.Arg698Ter) rs1654081712
NM_015100.4(POGZ):c.2131G>A (p.Ala711Thr)
NM_015100.4(POGZ):c.2157CTC[1] (p.Ser721del) rs769721111
NM_015100.4(POGZ):c.2188_2190delinsAAA (p.Tyr730Lys) rs1571340611
NM_015100.4(POGZ):c.2197G>A (p.Val733Ile) rs541476793
NM_015100.4(POGZ):c.2220_2221del (p.Arg740fs) rs1654056152
NM_015100.4(POGZ):c.2249G>A (p.Arg750Gln)
NM_015100.4(POGZ):c.2310C>G (p.Tyr770Ter) rs142133690
NM_015100.4(POGZ):c.2321_2324del (p.Ser774fs) rs864321671
NM_015100.4(POGZ):c.2324_2325insTT (p.Arg777fs) rs2102164714
NM_015100.4(POGZ):c.2345del (p.Cys782fs) rs1654011638
NM_015100.4(POGZ):c.2350C>T (p.Arg784Ter) rs886041669
NM_015100.4(POGZ):c.2375A>G (p.Asn792Ser) rs1202818073
NM_015100.4(POGZ):c.2396G>A (p.Ser799Asn) rs1557870645
NM_015100.4(POGZ):c.2400dup (p.Lys801fs) rs1653809027
NM_015100.4(POGZ):c.2401_2405delinsC (p.Lys801fs) rs1653807656
NM_015100.4(POGZ):c.2433-1G>C
NM_015100.4(POGZ):c.2433-2A>T rs1653770239
NM_015100.4(POGZ):c.245C>G (p.Thr82Arg)
NM_015100.4(POGZ):c.2469del (p.Thr824fs) rs1653766307
NM_015100.4(POGZ):c.2508del (p.Phe836fs)
NM_015100.4(POGZ):c.2520_2521del (p.His840fs) rs886042027
NM_015100.4(POGZ):c.2540C>A (p.Pro847Gln)
NM_015100.4(POGZ):c.2545+1G>T
NM_015100.4(POGZ):c.2545+1del rs1571332089
NM_015100.4(POGZ):c.2545+2del rs2102155019
NM_015100.4(POGZ):c.2546-20T>A rs2102153141
NM_015100.4(POGZ):c.2569A>G (p.Arg857Gly) rs2102152736
NM_015100.4(POGZ):c.2570+1G>T rs2102152727
NM_015100.4(POGZ):c.2574del (p.His858fs) rs1653647344
NM_015100.4(POGZ):c.2576_2599del (p.Gly859_His866del) rs1653635853
NM_015100.4(POGZ):c.2590C>T (p.Arg864Ter) rs756659230
NM_015100.4(POGZ):c.2604del (p.Asn869fs) rs1553213126
NM_015100.4(POGZ):c.263C>G (p.Thr88Arg)
NM_015100.4(POGZ):c.2646_2647del (p.Asn882fs) rs1553213060
NM_015100.4(POGZ):c.2700_2710del (p.Leu901fs) rs2102150015
NM_015100.4(POGZ):c.2705C>T (p.Thr902Ile) rs1557867853
NM_015100.4(POGZ):c.2709del (p.Pro903_Leu904insTer)
NM_015100.4(POGZ):c.2711T>A (p.Leu904Ter) rs864321668
NM_015100.4(POGZ):c.2729C>G (p.Ser910Ter)
NM_015100.4(POGZ):c.272C>A (p.Ala91Asp) rs1557935477
NM_015100.4(POGZ):c.2763dup (p.Thr922fs) rs864321672
NM_015100.4(POGZ):c.2768dup (p.His923fs) rs1653579916
NM_015100.4(POGZ):c.2771dup (p.Gln925fs)
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.2806G>T (p.Gly936Ter)
NM_015100.4(POGZ):c.2819_2826del (p.Leu940fs)
NM_015100.4(POGZ):c.2836del (p.Asp946fs) rs1571326296
NM_015100.4(POGZ):c.284-3T>C
NM_015100.4(POGZ):c.2849dup (p.Val951fs) rs1653560615
NM_015100.4(POGZ):c.2935C>T (p.Arg979Ter) rs864321674
NM_015100.4(POGZ):c.2989C>T (p.Arg997Ter) rs1553212545
NM_015100.4(POGZ):c.3001C>T (p.Arg1001Ter) rs869312833
NM_015100.4(POGZ):c.3011G>A (p.Arg1004His)
NM_015100.4(POGZ):c.303G>T (p.Gln101His) rs1557916296
NM_015100.4(POGZ):c.3040C>T (p.Gln1014Ter) rs2102147153
NM_015100.4(POGZ):c.3041del (p.Gln1014fs) rs796052217
NM_015100.4(POGZ):c.3046del (p.Glu1016fs)
NM_015100.4(POGZ):c.3048G>T (p.Glu1016Asp) rs1653514334
NM_015100.4(POGZ):c.3098_3101del (p.Glu1033fs)
NM_015100.4(POGZ):c.3100T>G (p.Trp1034Gly) rs2102146896
NM_015100.4(POGZ):c.3107T>C (p.Leu1036Pro) rs2102146840
NM_015100.4(POGZ):c.3115C>T (p.Arg1039Cys)
NM_015100.4(POGZ):c.3121C>T (p.Gln1041Ter) rs1557865787
NM_015100.4(POGZ):c.3124C>T (p.Gln1042Ter)
NM_015100.4(POGZ):c.3179_3180del (p.Ser1060fs) rs1653497680
NM_015100.4(POGZ):c.319C>G (p.Leu107Val) rs998675361
NM_015100.4(POGZ):c.3206_3207del (p.Ser1068_Tyr1069insTer) rs1553212374
NM_015100.4(POGZ):c.3259C>T (p.Arg1087Ter) rs879255404
NM_015100.4(POGZ):c.3307C>T (p.Leu1103Phe)
NM_015100.4(POGZ):c.3351del (p.Leu1117fs)
NM_015100.4(POGZ):c.3351dup (p.Pro1118fs) rs2102145228
NM_015100.4(POGZ):c.3354del (p.Leu1119fs) rs864321667
NM_015100.4(POGZ):c.3360dup (p.Met1121fs) rs1653455584
NM_015100.4(POGZ):c.3361_3362del (p.Met1121fs) rs2102145038
NM_015100.4(POGZ):c.3388T>G (p.Leu1130Val) rs1276388879
NM_015100.4(POGZ):c.3403G>C (p.Glu1135Gln)
NM_015100.4(POGZ):c.3424C>T (p.Arg1142Ter) rs773311942
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs) rs869320764
NM_015100.4(POGZ):c.3476_3477insTAC (p.Val1159_Val1160insThr)
NM_015100.4(POGZ):c.3540G>C (p.Met1180Ile)
NM_015100.4(POGZ):c.358A>G (p.Met120Val)
NM_015100.4(POGZ):c.3675G>A (p.Met1225Ile)
NM_015100.4(POGZ):c.3749C>G (p.Pro1250Arg)
NM_015100.4(POGZ):c.3772A>T (p.Ser1258Cys) rs1557863546
NM_015100.4(POGZ):c.3802A>G (p.Ile1268Val) rs1557863440
NM_015100.4(POGZ):c.3806A>G (p.Lys1269Arg) rs1557863430
NM_015100.4(POGZ):c.3837del (p.Lys1279fs)
NM_015100.4(POGZ):c.3847C>T (p.Gln1283Ter) rs869312834
NM_015100.4(POGZ):c.3908T>G (p.Val1303Gly)
NM_015100.4(POGZ):c.3936del (p.Ile1312fs) rs2102141341
NM_015100.4(POGZ):c.4007T>C (p.Ile1336Thr)
NM_015100.4(POGZ):c.4008T>G (p.Ile1336Met) rs1010981331
NM_015100.4(POGZ):c.4026T>G (p.Asn1342Lys)
NM_015100.4(POGZ):c.402_409dup (p.His137fs) rs1057518799
NM_015100.4(POGZ):c.4042_4043delinsTT (p.Glu1348Leu)
NM_015100.4(POGZ):c.4088A>G (p.His1363Arg) rs556553243
NM_015100.4(POGZ):c.4104T>A (p.Thr1368=) rs1571294
NM_015100.4(POGZ):c.4132A>C (p.Thr1378Pro) rs370498156
NM_015100.4(POGZ):c.4165G>C (p.Glu1389Gln)
NM_015100.4(POGZ):c.4202A>T (p.Glu1401Val)
NM_015100.4(POGZ):c.4207G>A (p.Ala1403Thr) rs1452048149
NM_015100.4(POGZ):c.4219C>A (p.Leu1407Met)
NM_015100.4(POGZ):c.460-1G>A rs1571464589
NM_015100.4(POGZ):c.460-2A>C rs2102303238
NM_015100.4(POGZ):c.600dup (p.Gly201fs)
NM_015100.4(POGZ):c.625A>T (p.Met209Leu) rs1557911386
NM_015100.4(POGZ):c.62del (p.Ile21fs) rs1660633733
NM_015100.4(POGZ):c.634G>A (p.Val212Met) rs1553226286
NM_015100.4(POGZ):c.64del (p.Ser22fs) rs2102370816
NM_015100.4(POGZ):c.692del (p.Ile231fs) rs1658105150
NM_015100.4(POGZ):c.712C>T (p.Arg238Ter) rs1557910873
NM_015100.4(POGZ):c.749A>G (p.Lys250Arg) rs1557910728
NM_015100.4(POGZ):c.787C>G (p.Gln263Glu) rs1658090172
NM_015100.4(POGZ):c.78_80delinsC (p.Glu26fs)
NM_015100.4(POGZ):c.794C>G (p.Thr265Ser) rs1476293577
NM_015100.4(POGZ):c.7del (p.Asp3fs)
NM_015100.4(POGZ):c.833C>G (p.Ser278Ter) rs864321673
NM_015100.4(POGZ):c.83C>T (p.Ser28Phe) rs1439970488
NM_015100.4(POGZ):c.859+1G>A rs2102294953
NM_015100.4(POGZ):c.860C>T (p.Ala287Val) rs1372713010
NM_015100.4(POGZ):c.902T>C (p.Phe301Ser) rs1557909821
NM_015100.4(POGZ):c.916C>T (p.Arg306Ter) rs1557909777
NM_015100.4(POGZ):c.91G>A (p.Glu31Lys) rs2102370617
NM_015100.4(POGZ):c.970C>G (p.Leu324Val) rs1557909572
Single allele

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