ClinVar Miner

List of variants in gene POC5 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 191
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HGVS dbSNP gnomAD frequency
NM_001099271.2(POC5):c.905G>A (p.Arg302Lys) rs202066997 0.00046
NM_001099271.2(POC5):c.61A>T (p.Ser21Cys) rs73766008 0.00038
NM_001099271.2(POC5):c.1237A>G (p.Thr413Ala) rs201739662 0.00032
NM_001099271.2(POC5):c.1294G>A (p.Val432Ile) rs199811005 0.00018
NM_001099271.2(POC5):c.871G>A (p.Val291Ile) rs201831831 0.00017
NM_001099271.2(POC5):c.1381G>A (p.Ala461Thr) rs372819160 0.00013
NM_001099271.2(POC5):c.1231C>T (p.Pro411Ser) rs200652341 0.00011
NM_001099271.2(POC5):c.767G>A (p.Arg256Gln) rs142297873 0.00011
NM_001099271.2(POC5):c.1285G>A (p.Ala429Thr) rs201218048 0.00010
NM_001099271.2(POC5):c.1363G>C (p.Ala455Pro) rs763910203 0.00010
NM_001099271.2(POC5):c.994A>G (p.Asn332Asp) rs573472803 0.00009
NM_001099271.2(POC5):c.722A>G (p.Lys241Arg) rs374161588 0.00008
NM_001099271.2(POC5):c.1220C>T (p.Pro407Leu) rs368239423 0.00007
NM_001099271.2(POC5):c.133G>A (p.Glu45Lys) rs375200977 0.00007
NM_001099271.2(POC5):c.1144A>T (p.Asn382Tyr) rs1221114605 0.00005
NM_001099271.2(POC5):c.1646C>T (p.Thr549Ile) rs375555924 0.00005
NM_001099271.2(POC5):c.23A>G (p.Tyr8Cys) rs201857837 0.00005
NM_001099271.2(POC5):c.307+3A>G rs374688049 0.00005
NM_001099271.2(POC5):c.523A>G (p.Ile175Val) rs778144035 0.00005
NM_001099271.2(POC5):c.539A>C (p.Lys180Thr) rs542180628 0.00005
NM_001099271.2(POC5):c.53G>C (p.Ser18Thr) rs369367879 0.00005
NM_001099271.2(POC5):c.117A>G (p.Ile39Met) rs187360501 0.00004
NM_001099271.2(POC5):c.1270G>A (p.Val424Ile) rs547644586 0.00004
NM_001099271.2(POC5):c.1310C>T (p.Ser437Leu) rs377610817 0.00004
NM_001099271.2(POC5):c.1466G>A (p.Arg489Gln) rs751771115 0.00004
NM_001099271.2(POC5):c.1523T>G (p.Ile508Arg) rs762351942 0.00004
NM_001099271.2(POC5):c.673A>G (p.Ile225Val) rs190991771 0.00004
NM_001099271.2(POC5):c.690+4T>C rs769127199 0.00004
NM_001099271.2(POC5):c.1101G>T (p.Met367Ile) rs749380864 0.00003
NM_001099271.2(POC5):c.1256C>A (p.Ser419Tyr) rs769986386 0.00003
NM_001099271.2(POC5):c.1537C>T (p.Pro513Ser) rs771564291 0.00003
NM_001099271.2(POC5):c.1607C>A (p.Ala536Glu) rs760243497 0.00003
NM_001099271.2(POC5):c.1616A>G (p.Tyr539Cys) rs550940695 0.00003
NM_001099271.2(POC5):c.427G>A (p.Glu143Lys) rs745951530 0.00003
NM_001099271.2(POC5):c.569G>A (p.Arg190Gln) rs760667470 0.00003
NM_001099271.2(POC5):c.599A>G (p.His200Arg) rs749952784 0.00003
NM_001099271.2(POC5):c.737T>C (p.Ile246Thr) rs201061779 0.00003
NM_001099271.2(POC5):c.796G>T (p.Val266Phe) rs1410107964 0.00003
NM_001099271.2(POC5):c.875T>C (p.Val292Ala) rs199868248 0.00003
NM_001099271.2(POC5):c.94G>A (p.Glu32Lys) rs921112569 0.00003
NM_001099271.2(POC5):c.1024C>T (p.His342Tyr) rs368789105 0.00002
NM_001099271.2(POC5):c.415A>G (p.Thr139Ala) rs199742799 0.00002
NM_001099271.2(POC5):c.513+5G>A rs772714057 0.00002
NM_001099271.2(POC5):c.793G>C (p.Asp265His) rs1395662640 0.00002
NM_001099271.2(POC5):c.814G>T (p.Ala272Ser) rs760493221 0.00002
NM_001099271.2(POC5):c.1009A>G (p.Ile337Val) rs763742465 0.00001
NM_001099271.2(POC5):c.1073G>T (p.Gly358Val) rs770607711 0.00001
NM_001099271.2(POC5):c.1139C>T (p.Ser380Phe) rs141696191 0.00001
NM_001099271.2(POC5):c.1163A>G (p.Tyr388Cys) rs778216774 0.00001
NM_001099271.2(POC5):c.1189C>T (p.His397Tyr) rs778524728 0.00001
NM_001099271.2(POC5):c.1309T>C (p.Ser437Pro) rs776606152 0.00001
NM_001099271.2(POC5):c.1351G>A (p.Val451Ile) rs552713438 0.00001
NM_001099271.2(POC5):c.1354C>T (p.Pro452Ser) rs1265821924 0.00001
NM_001099271.2(POC5):c.1538C>T (p.Pro513Leu) rs1035633933 0.00001
NM_001099271.2(POC5):c.1562A>G (p.Glu521Gly) rs1408846041 0.00001
NM_001099271.2(POC5):c.1570C>T (p.His524Tyr) rs1775726253 0.00001
NM_001099271.2(POC5):c.1606G>A (p.Ala536Thr) rs1433562167 0.00001
NM_001099271.2(POC5):c.1621C>T (p.Arg541Trp) rs771787338 0.00001
NM_001099271.2(POC5):c.1622G>A (p.Arg541Gln) rs747754016 0.00001
NM_001099271.2(POC5):c.1633C>A (p.Pro545Thr) rs768537209 0.00001
NM_001099271.2(POC5):c.1664T>C (p.Leu555Pro) rs1447488183 0.00001
NM_001099271.2(POC5):c.1717G>A (p.Val573Met) rs943925494 0.00001
NM_001099271.2(POC5):c.28C>T (p.Leu10Phe) rs994705819 0.00001
NM_001099271.2(POC5):c.308-17A>G rs1425894091 0.00001
NM_001099271.2(POC5):c.421G>A (p.Ala141Thr) rs564117652 0.00001
NM_001099271.2(POC5):c.452T>G (p.Val151Gly) rs2478915976 0.00001
NM_001099271.2(POC5):c.487C>T (p.Leu163Phe) rs1382764586 0.00001
NM_001099271.2(POC5):c.631A>G (p.Ile211Val) rs1289849286 0.00001
NM_001099271.2(POC5):c.635A>G (p.Asn212Ser) rs953763977 0.00001
NM_001099271.2(POC5):c.698C>A (p.Ser233Tyr) rs1446128697 0.00001
NM_001099271.2(POC5):c.771C>T (p.Ile257=) rs371551729 0.00001
NM_001099271.2(POC5):c.79C>A (p.Leu27Ile) rs1001408771 0.00001
NM_001099271.2(POC5):c.815C>G (p.Ala272Gly) rs1381773616 0.00001
NM_001099271.2(POC5):c.836C>T (p.Thr279Ile) rs754231095 0.00001
NM_001099271.2(POC5):c.857A>G (p.Lys286Arg) rs539358783 0.00001
NM_001099271.2(POC5):c.878A>G (p.Gln293Arg) rs1417367111 0.00001
NM_001099271.2(POC5):c.985G>A (p.Ala329Thr) rs1173634890 0.00001
NC_000005.9:g.(?_74970260)_(74990676_?)del
NC_000005.9:g.(?_74970260)_(74990676_?)dup
NM_001099271.2(POC5):c.1014A>T (p.Gln338His) rs1272894873
NM_001099271.2(POC5):c.1023A>C (p.Gln341His) rs2478818222
NM_001099271.2(POC5):c.1030A>C (p.Lys344Gln) rs1307643669
NM_001099271.2(POC5):c.1052T>G (p.Met351Arg) rs559852882
NM_001099271.2(POC5):c.1054A>T (p.Lys352Ter) rs901059127
NM_001099271.2(POC5):c.1059dup (p.Ala354fs)
NM_001099271.2(POC5):c.106_107inv (p.His36Cys)
NM_001099271.2(POC5):c.1075G>C (p.Val359Leu) rs746986549
NM_001099271.2(POC5):c.107A>C (p.His36Pro)
NM_001099271.2(POC5):c.10G>A (p.Asp4Asn) rs2478984769
NM_001099271.2(POC5):c.1109T>G (p.Phe370Cys) rs2478817288
NM_001099271.2(POC5):c.1118G>C (p.Arg373Thr) rs2478817175
NM_001099271.2(POC5):c.1133T>C (p.Ile378Thr) rs775658173
NM_001099271.2(POC5):c.1135G>A (p.Asp379Asn) rs769743688
NM_001099271.2(POC5):c.1141A>C (p.Thr381Pro)
NM_001099271.2(POC5):c.1144A>C (p.Asn382His) rs1221114605
NM_001099271.2(POC5):c.1154dup (p.Glu386fs) rs1776065172
NM_001099271.2(POC5):c.1187A>G (p.Glu396Gly)
NM_001099271.2(POC5):c.1198C>T (p.His400Tyr) rs917512153
NM_001099271.2(POC5):c.119T>C (p.Val40Ala) rs576819318
NM_001099271.2(POC5):c.1214C>G (p.Ala405Gly) rs2478798892
NM_001099271.2(POC5):c.1221G>T (p.Pro407=) rs374307702
NM_001099271.2(POC5):c.1225C>A (p.Pro409Thr) rs756722821
NM_001099271.2(POC5):c.1252C>T (p.Pro418Ser) rs138072982
NM_001099271.2(POC5):c.1253C>T (p.Pro418Leu)
NM_001099271.2(POC5):c.1264G>T (p.Ala422Ser)
NM_001099271.2(POC5):c.1265_1266delinsTT (p.Ala422Val) rs2478798259
NM_001099271.2(POC5):c.1307C>A (p.Ala436Asp) rs762882160
NM_001099271.2(POC5):c.1316C>A (p.Thr439Asn)
NM_001099271.2(POC5):c.1331C>A (p.Ala444Asp) rs749750536
NM_001099271.2(POC5):c.1331C>T (p.Ala444Val) rs749750536
NM_001099271.2(POC5):c.1333T>G (p.Ser445Ala) rs2478797487
NM_001099271.2(POC5):c.1370G>T (p.Gly457Val)
NM_001099271.2(POC5):c.137C>G (p.Pro46Arg) rs766572712
NM_001099271.2(POC5):c.1388C>G (p.Thr463Ser) rs760822511
NM_001099271.2(POC5):c.13G>A (p.Glu5Lys) rs2478984718
NM_001099271.2(POC5):c.13GAG[1] (p.Glu6del) rs1028895988
NM_001099271.2(POC5):c.1402G>T (p.Glu468Ter)
NM_001099271.2(POC5):c.1417A>G (p.Arg473Gly)
NM_001099271.2(POC5):c.1436A>C (p.Gln479Pro) rs2112070713
NM_001099271.2(POC5):c.1457_1459dup (p.Ile486_Thr487insIle) rs2478757735
NM_001099271.2(POC5):c.1465C>T (p.Arg489Trp)
NM_001099271.2(POC5):c.1524A>G (p.Ile508Met) rs1208360656
NM_001099271.2(POC5):c.1547G>A (p.Ser516Asn) rs2478756800
NM_001099271.2(POC5):c.1554TGT[1] (p.Val520del) rs767250204
NM_001099271.2(POC5):c.1573C>T (p.Pro525Ser)
NM_001099271.2(POC5):c.1645A>G (p.Thr549Ala) rs2478737444
NM_001099271.2(POC5):c.1705C>G (p.His569Asp)
NM_001099271.2(POC5):c.176T>A (p.Val59Glu) rs2478951380
NM_001099271.2(POC5):c.178C>T (p.Pro60Ser) rs2478951367
NM_001099271.2(POC5):c.17A>G (p.Glu6Gly) rs2112218076
NM_001099271.2(POC5):c.184G>A (p.Val62Ile) rs2112198561
NM_001099271.2(POC5):c.188G>C (p.Arg63Thr)
NM_001099271.2(POC5):c.199A>C (p.Ile67Leu) rs2478951135
NM_001099271.2(POC5):c.20A>G (p.Lys7Arg) rs2478984650
NM_001099271.2(POC5):c.223+5T>C
NM_001099271.2(POC5):c.233C>G (p.Ser78Cys) rs1161458355
NM_001099271.2(POC5):c.244G>T (p.Glu82Ter) rs780039150
NM_001099271.2(POC5):c.259G>T (p.Val87Phe)
NM_001099271.2(POC5):c.268G>A (p.Gly90Arg) rs868702658
NM_001099271.2(POC5):c.269G>C (p.Gly90Ala) rs192784670
NM_001099271.2(POC5):c.281A>G (p.His94Arg)
NM_001099271.2(POC5):c.283A>G (p.Ile95Val) rs2112190564
NM_001099271.2(POC5):c.304G>C (p.Asp102His) rs2478938290
NM_001099271.2(POC5):c.304_305del (p.Thr101_Asp102insTer) rs1561480377
NM_001099271.2(POC5):c.336G>T (p.Lys112Asn) rs1394780806
NM_001099271.2(POC5):c.337C>A (p.Pro113Thr) rs79392300
NM_001099271.2(POC5):c.344A>G (p.His115Arg)
NM_001099271.2(POC5):c.362dup (p.Ser122fs) rs1418341517
NM_001099271.2(POC5):c.371A>G (p.His124Arg) rs866298879
NM_001099271.2(POC5):c.373C>A (p.Leu125Ile) rs2478916866
NM_001099271.2(POC5):c.376T>G (p.Leu126Val)
NM_001099271.2(POC5):c.377del (p.Leu125_Leu126insTer) rs2478916793
NM_001099271.2(POC5):c.380C>G (p.Ala127Gly) rs1238948789
NM_001099271.2(POC5):c.419A>G (p.Asp140Gly)
NM_001099271.2(POC5):c.434T>C (p.Leu145Pro) rs1010782515
NM_001099271.2(POC5):c.465C>A (p.Asn155Lys) rs2478915821
NM_001099271.2(POC5):c.493C>T (p.Leu165Phe) rs2478915339
NM_001099271.2(POC5):c.520A>C (p.Ile174Leu) rs754248140
NM_001099271.2(POC5):c.531A>C (p.Glu177Asp)
NM_001099271.2(POC5):c.541T>C (p.Trp181Arg)
NM_001099271.2(POC5):c.55C>T (p.Arg19Ter)
NM_001099271.2(POC5):c.568C>G (p.Arg190Gly) rs1393849630
NM_001099271.2(POC5):c.57_59del (p.Gly20del) rs752695169
NM_001099271.2(POC5):c.587A>T (p.Glu196Val)
NM_001099271.2(POC5):c.589A>G (p.Lys197Glu)
NM_001099271.2(POC5):c.592G>C (p.Glu198Gln)
NM_001099271.2(POC5):c.598C>T (p.His200Tyr)
NM_001099271.2(POC5):c.608A>G (p.His203Arg) rs2478856471
NM_001099271.2(POC5):c.633C>G (p.Ile211Met) rs2478856177
NM_001099271.2(POC5):c.646G>T (p.Glu216Ter) rs2112135768
NM_001099271.2(POC5):c.65C>T (p.Ser22Phe) rs2478984241
NM_001099271.2(POC5):c.673A>T (p.Ile225Phe) rs190991771
NM_001099271.2(POC5):c.674T>A (p.Ile225Asn) rs773455229
NM_001099271.2(POC5):c.674T>C (p.Ile225Thr) rs773455229
NM_001099271.2(POC5):c.675T>G (p.Ile225Met) rs2478855577
NM_001099271.2(POC5):c.694A>T (p.Ile232Phe) rs2112125963
NM_001099271.2(POC5):c.696_699del (p.Ser233fs) rs2478841031
NM_001099271.2(POC5):c.745A>T (p.Met249Leu) rs1455559146
NM_001099271.2(POC5):c.770T>C (p.Ile257Thr) rs2478839996
NM_001099271.2(POC5):c.778G>A (p.Val260Ile) rs1375977205
NM_001099271.2(POC5):c.819C>G (p.Asp273Glu) rs2478828036
NM_001099271.2(POC5):c.84+6A>C
NM_001099271.2(POC5):c.85-7C>G rs1331706230
NM_001099271.2(POC5):c.866G>A (p.Arg289His) rs202144329
NM_001099271.2(POC5):c.881A>G (p.Lys294Arg) rs1185560852
NM_001099271.2(POC5):c.885G>C (p.Gln295His) rs2478827166
NM_001099271.2(POC5):c.888G>T (p.Trp296Cys) rs745837144
NM_001099271.2(POC5):c.901G>C (p.Glu301Gln) rs2478827016
NM_001099271.2(POC5):c.941A>G (p.Gln314Arg)
NM_001099271.2(POC5):c.943A>C (p.Ile315Leu) rs2478826551
NM_001099271.2(POC5):c.962C>T (p.Ala321Val) rs1776277063

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