ClinVar Miner

List of variants in gene PIGQ reported as likely benign for central nervous system disorder

Included ClinVar conditions (2490):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 257
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004204.5(PIGQ):c.350C>T (p.Ala117Val) rs111753944 0.00508
NM_004204.5(PIGQ):c.752G>A (p.Arg251Gln) rs142432798 0.00158
NM_004204.5(PIGQ):c.1546C>A (p.Arg516Ser) rs144613953 0.00115
NM_004204.5(PIGQ):c.996C>T (p.Ala332=) rs112667694 0.00113
NM_004204.5(PIGQ):c.925C>G (p.Leu309Val) rs145216283 0.00099
NM_004204.5(PIGQ):c.1253C>G (p.Ser418Cys) rs144619714 0.00086
NM_004204.5(PIGQ):c.1556G>A (p.Arg519Gln) rs138436451 0.00086
NM_004204.5(PIGQ):c.1505G>A (p.Arg502Gln) rs145602990 0.00075
NM_004204.5(PIGQ):c.1274G>T (p.Arg425Leu) rs202031540 0.00062
NM_004204.5(PIGQ):c.918C>T (p.Ala306=) rs148911709 0.00060
NM_004204.5(PIGQ):c.1116C>T (p.His372=) rs148430693 0.00051
NM_004204.5(PIGQ):c.1209C>T (p.Tyr403=) rs140668735 0.00049
NM_004204.5(PIGQ):c.41C>T (p.Thr14Met) rs200914759 0.00036
NM_004204.5(PIGQ):c.1223+7G>A rs202222590 0.00029
NM_004204.5(PIGQ):c.1615C>T (p.Arg539Cys) rs147312685 0.00025
NM_004204.5(PIGQ):c.1602A>G (p.Pro534=) rs148151840 0.00024
NM_004204.5(PIGQ):c.216G>A (p.Glu72=) rs772823319 0.00021
NM_004204.5(PIGQ):c.1251G>A (p.Leu417=) rs950271605 0.00019
NM_004204.5(PIGQ):c.945C>T (p.His315=) rs371278937 0.00019
NM_004204.5(PIGQ):c.579G>A (p.Ser193=) rs373040276 0.00017
NM_004204.5(PIGQ):c.1501C>T (p.Leu501Phe) rs149175905 0.00016
NM_004204.5(PIGQ):c.309G>A (p.Thr103=) rs137927310 0.00015
NM_004204.5(PIGQ):c.429G>A (p.Leu143=) rs33997204 0.00015
NM_004204.5(PIGQ):c.1069+15G>A rs369052612 0.00011
NM_004204.5(PIGQ):c.1291G>A (p.Val431Ile) rs377584268 0.00011
NM_004204.5(PIGQ):c.1485G>A (p.Pro495=) rs151202639 0.00011
NM_004204.5(PIGQ):c.798G>A (p.Ala266=) rs147905228 0.00011
NM_004204.5(PIGQ):c.231G>A (p.Leu77=) rs141134476 0.00010
NM_004204.5(PIGQ):c.1378C>T (p.Leu460=) rs370160027 0.00009
NM_004204.5(PIGQ):c.1594-19G>A rs201504653 0.00009
NM_004204.5(PIGQ):c.102G>A (p.Ala34=) rs746458449 0.00008
NM_004204.5(PIGQ):c.219C>T (p.Pro73=) rs376034140 0.00008
NM_004204.5(PIGQ):c.486G>C (p.Leu162=) rs544058493 0.00008
NM_004204.5(PIGQ):c.969G>A (p.Leu323=) rs576757942 0.00008
NM_004204.5(PIGQ):c.993C>T (p.Pro331=) rs142362312 0.00008
NM_004204.5(PIGQ):c.480G>T (p.Gly160=) rs764650784 0.00007
NM_004204.5(PIGQ):c.642G>T (p.Leu214=) rs751317115 0.00007
NM_004204.5(PIGQ):c.1069+17C>T rs911815057 0.00006
NM_004204.5(PIGQ):c.412C>T (p.Leu138=) rs139840454 0.00006
NM_004204.5(PIGQ):c.822-16C>T rs773807126 0.00006
NM_004204.5(PIGQ):c.1179C>T (p.Ala393=) rs776208432 0.00005
NM_004204.5(PIGQ):c.943-10G>A rs372502282 0.00005
NM_004204.5(PIGQ):c.943-5T>C rs374896268 0.00005
NM_004204.5(PIGQ):c.1137G>A (p.Leu379=) rs756438231 0.00004
NM_004204.5(PIGQ):c.1593+7C>T rs559115352 0.00004
NM_004204.5(PIGQ):c.183C>T (p.Ala61=) rs748930380 0.00004
NM_004204.5(PIGQ):c.354C>T (p.Pro118=) rs775224982 0.00004
NM_004204.5(PIGQ):c.444C>T (p.Pro148=) rs574379330 0.00004
NM_004204.5(PIGQ):c.492C>T (p.Ala164=) rs200563235 0.00004
NM_004204.5(PIGQ):c.498C>T (p.Phe166=) rs532618427 0.00004
NM_004204.5(PIGQ):c.603C>T (p.Leu201=) rs375806630 0.00004
NM_004204.5(PIGQ):c.708C>T (p.Pro236=) rs748239099 0.00004
NM_004204.5(PIGQ):c.720C>T (p.Leu240=) rs772128707 0.00004
NM_004204.5(PIGQ):c.741C>T (p.Cys247=) rs891335265 0.00004
NM_004204.5(PIGQ):c.1070-14C>T rs746142376 0.00003
NM_004204.5(PIGQ):c.1447C>T (p.Leu483=) rs776197045 0.00003
NM_004204.5(PIGQ):c.1531+9del rs756931991 0.00003
NM_004204.5(PIGQ):c.1594-20C>T rs367733781 0.00003
NM_004204.5(PIGQ):c.1611C>T (p.Tyr537=) rs200078807 0.00003
NM_004204.5(PIGQ):c.1635C>T (p.Arg545=) rs769051351 0.00003
NM_004204.5(PIGQ):c.177C>T (p.Gly59=) rs781377299 0.00003
NM_004204.5(PIGQ):c.33C>T (p.Cys11=) rs781136787 0.00003
NM_004204.5(PIGQ):c.690-4G>A rs756477258 0.00003
NM_004204.5(PIGQ):c.943-14_943-13del rs781689238 0.00003
NM_004204.5(PIGQ):c.1257A>G (p.Ser419=) rs998650651 0.00002
NM_004204.5(PIGQ):c.129C>T (p.Ile43=) rs767111244 0.00002
NM_004204.5(PIGQ):c.1335+16C>T rs568054183 0.00002
NM_004204.5(PIGQ):c.1392C>G (p.Ala464=) rs1055232975 0.00002
NM_004204.5(PIGQ):c.1434C>T (p.Val478=) rs747297694 0.00002
NM_004204.5(PIGQ):c.42G>A (p.Thr14=) rs747087089 0.00002
NM_004204.5(PIGQ):c.663G>A (p.Ser221=) rs757022779 0.00002
NM_004204.5(PIGQ):c.689+11C>T rs772483082 0.00002
NM_004204.5(PIGQ):c.943-14C>T rs760009376 0.00002
NM_004204.5(PIGQ):c.1020G>A (p.Leu340=) rs756884727 0.00001
NM_004204.5(PIGQ):c.1069+18G>A rs763605728 0.00001
NM_004204.5(PIGQ):c.1070-15A>G rs548475692 0.00001
NM_004204.5(PIGQ):c.1146G>A (p.Thr382=) rs555345115 0.00001
NM_004204.5(PIGQ):c.1191C>T (p.Phe397=) rs370675673 0.00001
NM_004204.5(PIGQ):c.1224-10C>T rs545951116 0.00001
NM_004204.5(PIGQ):c.1224-9G>A rs1567176813 0.00001
NM_004204.5(PIGQ):c.1245T>C (p.His415=) rs751590489 0.00001
NM_004204.5(PIGQ):c.1281G>A (p.Lys427=) rs889142137 0.00001
NM_004204.5(PIGQ):c.1305C>T (p.Arg435=) rs776456176 0.00001
NM_004204.5(PIGQ):c.1335+17G>A rs1332960356 0.00001
NM_004204.5(PIGQ):c.1336-12C>G rs544325210 0.00001
NM_004204.5(PIGQ):c.1336-19T>C rs1414041172 0.00001
NM_004204.5(PIGQ):c.1359C>T (p.Phe453=) rs1342887527 0.00001
NM_004204.5(PIGQ):c.1393C>T (p.Leu465=) rs760114948 0.00001
NM_004204.5(PIGQ):c.1416+8G>A rs1407085484 0.00001
NM_004204.5(PIGQ):c.1417-12C>T rs1215932903 0.00001
NM_004204.5(PIGQ):c.1531+14A>G rs371482972 0.00001
NM_004204.5(PIGQ):c.1674C>T (p.Gly558=) rs760639555 0.00001
NM_004204.5(PIGQ):c.1737G>A (p.Lys579=) rs202126491 0.00001
NM_004204.5(PIGQ):c.21C>T (p.Phe7=) rs758037706 0.00001
NM_004204.5(PIGQ):c.402C>G (p.Arg134=) rs1407101430 0.00001
NM_004204.5(PIGQ):c.555C>T (p.Pro185=) rs563223293 0.00001
NM_004204.5(PIGQ):c.564G>A (p.Leu188=) rs1055851051 0.00001
NM_004204.5(PIGQ):c.612G>A (p.Leu204=) rs997356295 0.00001
NM_004204.5(PIGQ):c.689+12G>A rs201905289 0.00001
NM_004204.5(PIGQ):c.689+16C>T rs1485743749 0.00001
NM_004204.5(PIGQ):c.690-18C>A rs1175924001 0.00001
NM_004204.5(PIGQ):c.738G>A (p.Thr246=) rs777027284 0.00001
NM_004204.5(PIGQ):c.821+7G>T rs374974911 0.00001
NM_004204.5(PIGQ):c.855C>T (p.Asp285=) rs759189005 0.00001
NM_004204.5(PIGQ):c.862C>T (p.Leu288=) rs1393407010 0.00001
NM_004204.5(PIGQ):c.891C>T (p.His297=) rs1197256493 0.00001
NM_004204.5(PIGQ):c.894G>A (p.Gly298=) rs557891539 0.00001
NM_004204.5(PIGQ):c.90C>T (p.Ala30=) rs1298565308 0.00001
NM_004204.5(PIGQ):c.1002C>A (p.Leu334=)
NM_004204.5(PIGQ):c.1035C>T (p.Gly345=) rs2151047082
NM_004204.5(PIGQ):c.1059C>T (p.His353=)
NM_004204.5(PIGQ):c.105C>T (p.Val35=)
NM_004204.5(PIGQ):c.1062G>A (p.Leu354=)
NM_004204.5(PIGQ):c.1069+13C>G
NM_004204.5(PIGQ):c.1069+16G>C
NM_004204.5(PIGQ):c.1069+16G>T
NM_004204.5(PIGQ):c.1070-11C>A rs770120211
NM_004204.5(PIGQ):c.1070-13C>T rs904954271
NM_004204.5(PIGQ):c.1070-9C>T rs2035762018
NM_004204.5(PIGQ):c.1080C>T (p.His360=) rs1246339172
NM_004204.5(PIGQ):c.1101G>A (p.Glu367=) rs895995237
NM_004204.5(PIGQ):c.1149G>C (p.Val383=) rs2151047343
NM_004204.5(PIGQ):c.1167G>T (p.Ser389=) rs576698468
NM_004204.5(PIGQ):c.1176C>T (p.Ile392=)
NM_004204.5(PIGQ):c.1182C>T (p.Leu394=)
NM_004204.5(PIGQ):c.1185C>A (p.Leu395=)
NM_004204.5(PIGQ):c.1185C>T (p.Leu395=)
NM_004204.5(PIGQ):c.120C>T (p.Phe40=) rs1437657927
NM_004204.5(PIGQ):c.1223+11G>T rs2151047439
NM_004204.5(PIGQ):c.1223+7G>T
NM_004204.5(PIGQ):c.1224-10C>G rs545951116
NM_004204.5(PIGQ):c.1224-13C>T rs1189390070
NM_004204.5(PIGQ):c.1224-16G>A
NM_004204.5(PIGQ):c.1224-20G>A
NM_004204.5(PIGQ):c.1224-20G>C rs772082265
NM_004204.5(PIGQ):c.1239G>A (p.Lys413=)
NM_004204.5(PIGQ):c.1249C>T (p.Leu417=)
NM_004204.5(PIGQ):c.1260G>T (p.Leu420=)
NM_004204.5(PIGQ):c.1269G>C (p.Leu423=)
NM_004204.5(PIGQ):c.1284G>A (p.Lys428=)
NM_004204.5(PIGQ):c.1290C>T (p.Asn430=)
NM_004204.5(PIGQ):c.1317T>C (p.Cys439=) rs2151047685
NM_004204.5(PIGQ):c.1326C>T (p.Asp442=)
NM_004204.5(PIGQ):c.1335+12G>A
NM_004204.5(PIGQ):c.1335+18T>G
NM_004204.5(PIGQ):c.1336-20G>A
NM_004204.5(PIGQ):c.1336-4A>T
NM_004204.5(PIGQ):c.1366C>T (p.Leu456=) rs748421863
NM_004204.5(PIGQ):c.1392C>T (p.Ala464=) rs1055232975
NM_004204.5(PIGQ):c.1407G>A (p.Val469=)
NM_004204.5(PIGQ):c.1413C>G (p.Thr471=) rs949257164
NM_004204.5(PIGQ):c.1416+10G>A rs1191271833
NM_004204.5(PIGQ):c.1417-12C>A
NM_004204.5(PIGQ):c.1425C>T (p.Leu475=)
NM_004204.5(PIGQ):c.1434C>G (p.Val478=)
NM_004204.5(PIGQ):c.1437C>G (p.Ala479=) rs190457469
NM_004204.5(PIGQ):c.1437C>T (p.Ala479=) rs190457469
NM_004204.5(PIGQ):c.1461C>T (p.Leu487=) rs1045274
NM_004204.5(PIGQ):c.1473C>T (p.Ile491=) rs760124355
NM_004204.5(PIGQ):c.1479C>T (p.Ser493=)
NM_004204.5(PIGQ):c.1491C>T (p.Tyr497=)
NM_004204.5(PIGQ):c.1495C>T (p.Leu499=)
NM_004204.5(PIGQ):c.1509C>T (p.Leu503=)
NM_004204.5(PIGQ):c.1512C>T (p.Cys504=)
NM_004204.5(PIGQ):c.1521C>T (p.Tyr507=)
NM_004204.5(PIGQ):c.1531+12G>A
NM_004204.5(PIGQ):c.1536C>T (p.Gly512=)
NM_004204.5(PIGQ):c.1557G>A (p.Arg519=)
NM_004204.5(PIGQ):c.1557G>C (p.Arg519=) rs1252406741
NM_004204.5(PIGQ):c.1560C>T (p.His520=) rs561397217
NM_004204.5(PIGQ):c.1566C>T (p.Ala522=)
NM_004204.5(PIGQ):c.1593+12T>G
NM_004204.5(PIGQ):c.1593+14T>A
NM_004204.5(PIGQ):c.1593+17C>G rs2151049897
NM_004204.5(PIGQ):c.1594-13C>T
NM_004204.5(PIGQ):c.1594-7C>T
NM_004204.5(PIGQ):c.1594-8C>T
NM_004204.5(PIGQ):c.159G>A (p.Arg53=)
NM_004204.5(PIGQ):c.1623G>A (p.Val541=)
NM_004204.5(PIGQ):c.1638C>T (p.Leu546=)
NM_004204.5(PIGQ):c.1650C>G (p.Gly550=) rs1302429328
NM_004204.5(PIGQ):c.165C>T (p.Ala55=) rs777873607
NM_004204.5(PIGQ):c.1668C>T (p.Ser556=) rs767060930
NM_004204.5(PIGQ):c.1674C>A (p.Gly558=)
NM_004204.5(PIGQ):c.1680G>A (p.Leu560=)
NM_004204.5(PIGQ):c.1683C>T (p.Cys561=)
NM_004204.5(PIGQ):c.1692G>A (p.Leu564=)
NM_004204.5(PIGQ):c.1713C>T (p.Tyr571=)
NM_004204.5(PIGQ):c.1716C>T (p.Pro572=) rs757533305
NM_004204.5(PIGQ):c.1740G>A (p.Gln580=)
NM_004204.5(PIGQ):c.195C>A (p.Thr65=)
NM_004204.5(PIGQ):c.210G>A (p.Arg70=)
NM_004204.5(PIGQ):c.219C>G (p.Pro73=) rs376034140
NM_004204.5(PIGQ):c.225G>A (p.Glu75=) rs1555451628
NM_004204.5(PIGQ):c.234C>T (p.Gly78=)
NM_004204.5(PIGQ):c.241C>T (p.Leu81=)
NM_004204.5(PIGQ):c.249C>T (p.Ser83=) rs1172104522
NM_004204.5(PIGQ):c.286C>T (p.Leu96=)
NM_004204.5(PIGQ):c.303C>T (p.Gly101=)
NM_004204.5(PIGQ):c.321C>T (p.Cys107=)
NM_004204.5(PIGQ):c.396C>T (p.Asp132=)
NM_004204.5(PIGQ):c.39G>A (p.Ser13=)
NM_004204.5(PIGQ):c.408G>A (p.Val136=) rs1022155004
NM_004204.5(PIGQ):c.435C>T (p.Thr145=)
NM_004204.5(PIGQ):c.444C>G (p.Pro148=)
NM_004204.5(PIGQ):c.474C>T (p.Ser158=)
NM_004204.5(PIGQ):c.477G>A (p.Thr159=) rs752792719
NM_004204.5(PIGQ):c.477G>T (p.Thr159=)
NM_004204.5(PIGQ):c.48C>T (p.Ser16=)
NM_004204.5(PIGQ):c.525C>T (p.Leu175=) rs2151044548
NM_004204.5(PIGQ):c.585C>T (p.Gly195=)
NM_004204.5(PIGQ):c.606G>A (p.Ala202=) rs773468112
NM_004204.5(PIGQ):c.606G>T (p.Ala202=)
NM_004204.5(PIGQ):c.60G>A (p.Val20=)
NM_004204.5(PIGQ):c.610C>T (p.Leu204=)
NM_004204.5(PIGQ):c.616A>C (p.Arg206=) rs373314884
NM_004204.5(PIGQ):c.627G>A (p.Ser209=)
NM_004204.5(PIGQ):c.640C>T (p.Leu214=) rs2151044699
NM_004204.5(PIGQ):c.642G>A (p.Leu214=)
NM_004204.5(PIGQ):c.645G>T (p.Leu215=)
NM_004204.5(PIGQ):c.64C>A (p.Arg22=) rs751055581
NM_004204.5(PIGQ):c.658C>T (p.Leu220=) rs1419451515
NM_004204.5(PIGQ):c.684C>T (p.Ala228=) rs2151044755
NM_004204.5(PIGQ):c.687C>T (p.Cys229=)
NM_004204.5(PIGQ):c.689+13G>A
NM_004204.5(PIGQ):c.689+14G>A
NM_004204.5(PIGQ):c.689+18G>A
NM_004204.5(PIGQ):c.689+8T>C
NM_004204.5(PIGQ):c.690-12A>G
NM_004204.5(PIGQ):c.690-17_690-13del
NM_004204.5(PIGQ):c.690-20T>C
NM_004204.5(PIGQ):c.690-5C>T rs1596383536
NM_004204.5(PIGQ):c.732C>T (p.Leu244=) rs2151045330
NM_004204.5(PIGQ):c.751C>A (p.Arg251=)
NM_004204.5(PIGQ):c.753G>C (p.Arg251=)
NM_004204.5(PIGQ):c.774G>A (p.Thr258=)
NM_004204.5(PIGQ):c.774G>T (p.Thr258=)
NM_004204.5(PIGQ):c.780C>T (p.Ile260=)
NM_004204.5(PIGQ):c.804C>T (p.Asn268=) rs747036362
NM_004204.5(PIGQ):c.821+11G>T
NM_004204.5(PIGQ):c.822-11C>T
NM_004204.5(PIGQ):c.822-8C>A
NM_004204.5(PIGQ):c.834G>A (p.Thr278=)
NM_004204.5(PIGQ):c.849G>A (p.Leu283=)
NM_004204.5(PIGQ):c.882C>T (p.Ser294=)
NM_004204.5(PIGQ):c.906C>T (p.Ile302=)
NM_004204.5(PIGQ):c.90C>G (p.Ala30=)
NM_004204.5(PIGQ):c.921C>T (p.Asp307=)
NM_004204.5(PIGQ):c.924C>T (p.Ala308=)
NM_004204.5(PIGQ):c.927C>T (p.Leu309=)
NM_004204.5(PIGQ):c.943-15C>T
NM_004204.5(PIGQ):c.951C>G (p.Ala317=) rs756903826
NM_004204.5(PIGQ):c.951C>T (p.Ala317=) rs756903826
NM_004204.5(PIGQ):c.957G>A (p.Glu319=) rs2151047024
NM_004204.5(PIGQ):c.967C>T (p.Leu323=)
NM_004204.5(PIGQ):c.970C>T (p.Leu324=) rs1596385322
NM_004204.5(PIGQ):c.979C>T (p.Leu327=) rs2151047039

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