ClinVar Miner

List of variants reported as likely benign for hydrocephalus

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 222
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HGVS dbSNP gnomAD frequency
NM_001278116.2(L1CAM):c.-109+95_-109+96insGCCG rs58566947 0.99995
NM_001080414.4(CCDC88C):c.2204G>A (p.Arg735His) rs114142372 0.00949
NM_001080414.4(CCDC88C):c.4433T>C (p.Val1478Ala) rs201222692 0.00627
NM_001080414.4(CCDC88C):c.5183T>C (p.Phe1728Ser) rs7145583 0.00602
NM_001080414.4(CCDC88C):c.906G>A (p.Ala302=) rs11851173 0.00565
NM_001378778.1(MPDZ):c.6176G>A (p.Arg2059Gln) rs193280665 0.00527
NM_001080414.4(CCDC88C):c.4668G>A (p.Leu1556=) rs139544500 0.00494
NM_005027.4(PIK3R2):c.1560-17C>T rs183117011 0.00461
NM_001080414.4(CCDC88C):c.5951G>A (p.Arg1984Gln) rs61745465 0.00451
NM_001080414.4(CCDC88C):c.4287C>T (p.Thr1429=) rs146028766 0.00326
NM_001080414.4(CCDC88C):c.969C>T (p.Asn323=) rs61737660 0.00287
NM_001080414.4(CCDC88C):c.6027G>A (p.Pro2009=) rs200979954 0.00175
NM_005027.4(PIK3R2):c.696G>A (p.Val232=) rs571661207 0.00101
NM_001759.4(CCND2):c.756G>A (p.Ala252=) rs145050894 0.00074
NM_005027.4(PIK3R2):c.817A>T (p.Ser273Cys) rs147990742 0.00055
NM_005027.4(PIK3R2):c.1023C>T (p.Asn341=) rs201900751 0.00041
NM_005027.4(PIK3R2):c.657G>A (p.Ala219=) rs772272053 0.00037
NM_005465.7(AKT3):c.1163+17G>A rs367951410 0.00034
NM_001278116.2(L1CAM):c.2657G>A (p.Arg886Gln) rs142603269 0.00032
NM_005027.4(PIK3R2):c.1104C>T (p.Thr368=) rs551874555 0.00029
NM_001278116.2(L1CAM):c.113C>T (p.Thr38Met) rs201151358 0.00027
NM_005027.4(PIK3R2):c.1559+12G>A rs142415492 0.00024
NM_005027.4(PIK3R2):c.902-17G>A rs199796442 0.00020
NM_001378778.1(MPDZ):c.881G>A (p.Gly294Glu) rs768539794 0.00019
NM_005027.4(PIK3R2):c.816-8C>T rs200494626 0.00018
NM_001163809.2(WDR81):c.2304C>T (p.His768=) rs994508298 0.00016
NM_005027.4(PIK3R2):c.301C>T (p.Arg101Cys) rs187640248 0.00016
NM_001080414.4(CCDC88C):c.1050+9C>T rs372411289 0.00015
NM_001163809.2(WDR81):c.2051A>C (p.Gln684Pro) rs748793270 0.00013
NM_005027.4(PIK3R2):c.1191C>T (p.Ser397=) rs201146203 0.00013
NM_005027.4(PIK3R2):c.126C>T (p.Gly42=) rs893028434 0.00013
NM_005027.4(PIK3R2):c.240C>T (p.Pro80=) rs370853734 0.00013
NM_005027.4(PIK3R2):c.706G>A (p.Ala236Thr) rs941281903 0.00012
NM_005027.4(PIK3R2):c.194G>A (p.Arg65Gln) rs374448993 0.00011
NM_005027.4(PIK3R2):c.1815C>T (p.Tyr605=) rs747442212 0.00009
NM_005027.4(PIK3R2):c.258C>T (p.Pro86=) rs565485814 0.00009
NM_005027.4(PIK3R2):c.527G>A (p.Ser176Asn) rs111848145 0.00009
NM_001378778.1(MPDZ):c.5765A>C (p.Glu1922Ala) rs372346014 0.00008
NM_005465.7(AKT3):c.1082A>G (p.Glu361Gly) rs760280114 0.00008
NM_005465.7(AKT3):c.165A>G (p.Ser55=) rs369662909 0.00007
NM_005465.7(AKT3):c.306C>A (p.Ile102=) rs528649886 0.00007
NM_005027.4(PIK3R2):c.1629G>A (p.Glu543=) rs774532039 0.00006
NM_005027.4(PIK3R2):c.1968C>T (p.Ala656=) rs756868198 0.00006
NM_005027.4(PIK3R2):c.379C>T (p.Leu127Phe) rs542398089 0.00006
NM_005465.7(AKT3):c.820-10T>G rs370193515 0.00006
NM_005465.7(AKT3):c.840C>T (p.Asp280=) rs201347487 0.00006
NM_005027.4(PIK3R2):c.1440A>C (p.Ala480=) rs748631629 0.00005
NM_005027.4(PIK3R2):c.564C>G (p.Pro188=) rs756748269 0.00005
NM_005465.7(AKT3):c.996A>G (p.Leu332=) rs371532988 0.00005
NM_005027.4(PIK3R2):c.108G>A (p.Ala36=) rs761735561 0.00004
NM_005027.4(PIK3R2):c.1980-5C>T rs771103459 0.00004
NM_005465.7(AKT3):c.1104A>G (p.Thr368=) rs774883413 0.00004
NM_005465.7(AKT3):c.820-18A>G rs750153115 0.00004
NM_005027.4(PIK3R2):c.1808+10C>T rs549556976 0.00003
NM_005027.4(PIK3R2):c.467-17C>T rs373288144 0.00003
NM_005027.4(PIK3R2):c.734C>A (p.Ala245Asp) rs897040629 0.00003
NM_005465.7(AKT3):c.906C>T (p.Thr302=) rs770248544 0.00003
NM_001163809.2(WDR81):c.5607C>T (p.Ser1869=) rs760895795 0.00002
NM_005027.4(PIK3R2):c.2037C>T (p.Phe679=) rs112163556 0.00002
NM_005027.4(PIK3R2):c.265C>T (p.Arg89Cys) rs759139578 0.00002
NM_005027.4(PIK3R2):c.322+7A>G rs774883359 0.00002
NM_005465.7(AKT3):c.1050C>T (p.Asp350=) rs1026697335 0.00002
NM_005465.7(AKT3):c.1386T>C (p.Asn462=) rs778193336 0.00002
NM_005465.7(AKT3):c.47-18C>T rs186964075 0.00002
NM_005465.7(AKT3):c.564T>C (p.Asp188=) rs775503811 0.00002
NM_005465.7(AKT3):c.882A>G (p.Lys294=) rs766767139 0.00002
NM_001163809.2(WDR81):c.1604G>A (p.Arg535His) rs563732828 0.00001
NM_005027.4(PIK3R2):c.1401C>T (p.Tyr467=) rs1031365601 0.00001
NM_005027.4(PIK3R2):c.1559+10G>A rs562886046 0.00001
NM_005027.4(PIK3R2):c.1974C>T (p.Ser658=) rs750813850 0.00001
NM_005027.4(PIK3R2):c.2134C>T (p.Leu712=) rs780181859 0.00001
NM_005027.4(PIK3R2):c.36G>A (p.Leu12=) rs991022925 0.00001
NM_005027.4(PIK3R2):c.467-11T>C rs746464481 0.00001
NM_005027.4(PIK3R2):c.598+20C>T rs1287594814 0.00001
NM_005027.4(PIK3R2):c.672C>T (p.Phe224=) rs977691358 0.00001
NM_005465.7(AKT3):c.1164-7C>T rs187627364 0.00001
NM_005465.7(AKT3):c.1275A>G (p.Gln425=) rs143949494 0.00001
NM_005465.7(AKT3):c.172+19T>C rs746689777 0.00001
NM_005465.7(AKT3):c.284+10T>C rs371954528 0.00001
NM_005465.7(AKT3):c.417T>C (p.His139=) rs1283519302 0.00001
NM_005465.7(AKT3):c.47-10C>T rs751741670 0.00001
NM_005465.7(AKT3):c.562-6T>C rs1277089927 0.00001
NM_005465.7(AKT3):c.726G>A (p.Val242=) rs781331863 0.00001
NM_005465.7(AKT3):c.729C>T (p.Phe243=) rs1340146435 0.00001
NM_001080414.4(CCDC88C):c.1720C>T (p.Arg574Trp)
NM_001080414.4(CCDC88C):c.5378C>G (p.Ala1793Gly)
NM_005027.4(PIK3R2):c.1010+11G>T
NM_005027.4(PIK3R2):c.1032C>G (p.Leu344=)
NM_005027.4(PIK3R2):c.1035G>C (p.Arg345=)
NM_005027.4(PIK3R2):c.1044C>T (p.Pro348=)
NM_005027.4(PIK3R2):c.1049G>T (p.Gly350Val)
NM_005027.4(PIK3R2):c.1066G>A (p.Asp356Asn) rs2147952202
NM_005027.4(PIK3R2):c.1109+14C>T
NM_005027.4(PIK3R2):c.1109+7G>T
NM_005027.4(PIK3R2):c.1110-10C>A rs1599977480
NM_005027.4(PIK3R2):c.1110-3C>A
NM_005027.4(PIK3R2):c.1110-4C>T rs948209108
NM_005027.4(PIK3R2):c.1140C>T (p.Val380=)
NM_005027.4(PIK3R2):c.1161T>C (p.Tyr387=)
NM_005027.4(PIK3R2):c.120G>A (p.Ala40=)
NM_005027.4(PIK3R2):c.1290+12C>T
NM_005027.4(PIK3R2):c.1290+19G>A
NM_005027.4(PIK3R2):c.1291-11C>T
NM_005027.4(PIK3R2):c.1291-15G>A rs767807584
NM_005027.4(PIK3R2):c.1291-16C>T
NM_005027.4(PIK3R2):c.1317G>A (p.Val439=)
NM_005027.4(PIK3R2):c.132C>T (p.Ala44=)
NM_005027.4(PIK3R2):c.1380T>C (p.Tyr460=) rs2147953748
NM_005027.4(PIK3R2):c.138T>G (p.Gly46=)
NM_005027.4(PIK3R2):c.1410C>T (p.Thr470=)
NM_005027.4(PIK3R2):c.1417-11C>T
NM_005027.4(PIK3R2):c.1417-14G>C
NM_005027.4(PIK3R2):c.1480C>T (p.Gln494Ter)
NM_005027.4(PIK3R2):c.1516C>T (p.Leu506=)
NM_005027.4(PIK3R2):c.1559+11C>T
NM_005027.4(PIK3R2):c.1560-16C>G
NM_005027.4(PIK3R2):c.1560-18A>G
NM_005027.4(PIK3R2):c.1575C>G (p.Ser525=)
NM_005027.4(PIK3R2):c.159C>T (p.Ser53=)
NM_005027.4(PIK3R2):c.1608T>C (p.His536=)
NM_005027.4(PIK3R2):c.1665G>A (p.Glu555=)
NM_005027.4(PIK3R2):c.1668C>A (p.Ile556=)
NM_005027.4(PIK3R2):c.1736+10G>A
NM_005027.4(PIK3R2):c.174C>T (p.Pro58=)
NM_005027.4(PIK3R2):c.177C>T (p.Gly59=) rs557476940
NM_005027.4(PIK3R2):c.1803T>C (p.Thr601=)
NM_005027.4(PIK3R2):c.1808+11G>C
NM_005027.4(PIK3R2):c.1808+16G>A
NM_005027.4(PIK3R2):c.1809-6C>T
NM_005027.4(PIK3R2):c.1827G>A (p.Glu609=)
NM_005027.4(PIK3R2):c.1842C>T (p.Leu614=)
NM_005027.4(PIK3R2):c.1845G>T (p.Pro615=) rs201568661
NM_005027.4(PIK3R2):c.186G>A (p.Glu62=)
NM_005027.4(PIK3R2):c.1890G>A (p.Thr630=)
NM_005027.4(PIK3R2):c.1979+12G>A
NM_005027.4(PIK3R2):c.1980-4A>C
NM_005027.4(PIK3R2):c.1987G>C (p.Gly663Arg)
NM_005027.4(PIK3R2):c.2004C>G (p.Cys668Trp) rs2147960455
NM_005027.4(PIK3R2):c.2074C>T (p.Leu692=) rs372448001
NM_005027.4(PIK3R2):c.2085C>T (p.His695=)
NM_005027.4(PIK3R2):c.2094C>T (p.His698=)
NM_005027.4(PIK3R2):c.2133C>G (p.Thr711=)
NM_005027.4(PIK3R2):c.216C>T (p.Gly72=)
NM_005027.4(PIK3R2):c.2172G>A (p.Pro724=)
NM_005027.4(PIK3R2):c.267C>T (p.Arg89=)
NM_005027.4(PIK3R2):c.322+18G>C
NM_005027.4(PIK3R2):c.322+18G>T rs201235026
NM_005027.4(PIK3R2):c.323-8C>T
NM_005027.4(PIK3R2):c.327C>T (p.Leu109=)
NM_005027.4(PIK3R2):c.340T>C (p.Leu114=)
NM_005027.4(PIK3R2):c.372T>C (p.Ala124=)
NM_005027.4(PIK3R2):c.399G>A (p.Glu133=)
NM_005027.4(PIK3R2):c.415+17C>T
NM_005027.4(PIK3R2):c.415+8C>T
NM_005027.4(PIK3R2):c.416-5C>G
NM_005027.4(PIK3R2):c.42G>C (p.Pro14=) rs767495472
NM_005027.4(PIK3R2):c.435C>T (p.His145=)
NM_005027.4(PIK3R2):c.453C>T (p.Pro151=) rs2147949807
NM_005027.4(PIK3R2):c.466+11G>T rs376952388
NM_005027.4(PIK3R2):c.466+17A>G
NM_005027.4(PIK3R2):c.466+20G>C
NM_005027.4(PIK3R2):c.467-5C>T
NM_005027.4(PIK3R2):c.498C>T (p.Asp166=)
NM_005027.4(PIK3R2):c.517G>A (p.Gly173Ser)
NM_005027.4(PIK3R2):c.546C>G (p.Pro182=)
NM_005027.4(PIK3R2):c.55C>T (p.Arg19Trp)
NM_005027.4(PIK3R2):c.57G>A (p.Arg19=)
NM_005027.4(PIK3R2):c.598+15T>C
NM_005027.4(PIK3R2):c.599-12A>G
NM_005027.4(PIK3R2):c.60G>A (p.Pro20=)
NM_005027.4(PIK3R2):c.618G>A (p.Gly206=)
NM_005027.4(PIK3R2):c.618G>T (p.Gly206=)
NM_005027.4(PIK3R2):c.6G>A (p.Ala2=)
NM_005027.4(PIK3R2):c.720T>C (p.Gly240=) rs2043744166
NM_005027.4(PIK3R2):c.730C>A (p.Arg244=)
NM_005027.4(PIK3R2):c.747C>T (p.Thr249=)
NM_005027.4(PIK3R2):c.777G>A (p.Pro259=)
NM_005027.4(PIK3R2):c.780G>A (p.Pro260=)
NM_005027.4(PIK3R2):c.810C>T (p.Pro270=)
NM_005027.4(PIK3R2):c.815+20C>T
NM_005027.4(PIK3R2):c.815+5GGGGC[3] rs1008971604
NM_005027.4(PIK3R2):c.815+7G>A rs2147950994
NM_005027.4(PIK3R2):c.816-9C>T
NM_005027.4(PIK3R2):c.855G>A (p.Glu285=)
NM_005027.4(PIK3R2):c.872A>G (p.His291Arg) rs558189276
NM_005027.4(PIK3R2):c.874T>C (p.Leu292=)
NM_005027.4(PIK3R2):c.87C>T (p.Asp29=)
NM_005027.4(PIK3R2):c.888G>A (p.Glu296=)
NM_005027.4(PIK3R2):c.902-10T>G
NM_005027.4(PIK3R2):c.902-11C>T
NM_005027.4(PIK3R2):c.903G>C (p.Ala301=)
NM_005027.4(PIK3R2):c.91C>T (p.Leu31=)
NM_005027.4(PIK3R2):c.924G>A (p.Lys308=)
NM_005027.4(PIK3R2):c.942A>T (p.Thr314=)
NM_005465.7(AKT3):c.1101A>C (p.Arg367=) rs2148466016
NM_005465.7(AKT3):c.1215C>T (p.Phe405=)
NM_005465.7(AKT3):c.1252-10C>G rs2148363624
NM_005465.7(AKT3):c.1252-20C>G
NM_005465.7(AKT3):c.1252-20_1252-19del
NM_005465.7(AKT3):c.1342C>A (p.Pro448Thr) rs2148363374
NM_005465.7(AKT3):c.1416C>T (p.Ser472=)
NM_005465.7(AKT3):c.172+13T>A
NM_005465.7(AKT3):c.195A>G (p.Glu65=)
NM_005465.7(AKT3):c.273T>C (p.Thr91=) rs1057522821
NM_005465.7(AKT3):c.345G>A (p.Glu115=)
NM_005465.7(AKT3):c.429+15C>T
NM_005465.7(AKT3):c.430-11G>T
NM_005465.7(AKT3):c.430-19T>C
NM_005465.7(AKT3):c.430-9del
NM_005465.7(AKT3):c.46+18C>G
NM_005465.7(AKT3):c.47-17G>A
NM_005465.7(AKT3):c.47-4G>A
NM_005465.7(AKT3):c.540G>A (p.Lys180=)
NM_005465.7(AKT3):c.562-17C>T
NM_005465.7(AKT3):c.627+7G>A
NM_005465.7(AKT3):c.720G>A (p.Glu240=) rs1204640048
NM_005465.7(AKT3):c.820-10T>A rs370193515
NM_005465.7(AKT3):c.820-12C>G rs1558618010
NM_005465.7(AKT3):c.933A>G (p.Glu311=)
NM_005465.7(AKT3):c.948+9C>A rs776361820
NM_005465.7(AKT3):c.948+9C>T
NM_005465.7(AKT3):c.949-18T>C

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