ClinVar Miner

List of variants in gene HIVEP2 studied for autosomal dominant non-syndromic intellectual disability

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_006734.4(HIVEP2):c.4613T>C (p.Leu1538Pro) rs109836 0.97172
NM_006734.4(HIVEP2):c.6885A>G (p.Pro2295=) rs169098 0.70641
NM_006734.4(HIVEP2):c.5397C>T (p.Tyr1799=) rs61729356 0.00746
NM_006734.4(HIVEP2):c.4140C>T (p.Thr1380=) rs35406346 0.00511
NM_006734.4(HIVEP2):c.5583A>G (p.Ser1861=) rs200660585 0.00371
NM_006734.4(HIVEP2):c.4293C>T (p.Ser1431=) rs34191067 0.00353
NM_006734.4(HIVEP2):c.2367A>G (p.Leu789=) rs201358604 0.00077
NM_006734.4(HIVEP2):c.7069C>T (p.Pro2357Ser) rs199935129 0.00071
NM_006734.4(HIVEP2):c.6884C>T (p.Pro2295Leu) rs201249840 0.00041
NM_006734.4(HIVEP2):c.4276C>T (p.Pro1426Ser) rs373621115 0.00012
NM_006734.4(HIVEP2):c.4144G>A (p.Ala1382Thr) rs368520807 0.00009
NM_006734.4(HIVEP2):c.4465C>G (p.Arg1489Gly) rs768721723 0.00006
NM_006734.4(HIVEP2):c.1339C>T (p.Arg447Cys) rs752550288 0.00003
NM_006734.4(HIVEP2):c.1913A>G (p.Tyr638Cys) rs745452954 0.00002
NM_006734.4(HIVEP2):c.230A>C (p.Gln77Pro) rs1775643278 0.00002
NM_006734.4(HIVEP2):c.2156C>T (p.Thr719Ile) rs780128851 0.00001
NM_006734.4(HIVEP2):c.2963C>T (p.Thr988Ile) rs1456774761 0.00001
NM_006734.4(HIVEP2):c.3212C>T (p.Pro1071Leu) rs1327649883 0.00001
NM_006734.4(HIVEP2):c.3730A>G (p.Lys1244Glu) rs777382930 0.00001
NM_006734.4(HIVEP2):c.4022A>C (p.His1341Pro) rs998840629 0.00001
NM_006734.4(HIVEP2):c.4024G>A (p.Val1342Ile) rs760320989 0.00001
NM_006734.4(HIVEP2):c.5150A>T (p.Lys1717Met) rs1775466922 0.00001
NM_006734.4(HIVEP2):c.6245T>C (p.Leu2082Pro) rs753359071 0.00001
NM_006734.4(HIVEP2):c.6766C>A (p.Pro2256Thr) rs1774988930 0.00001
NM_006734.4(HIVEP2):c.967A>G (p.Met323Val) rs1473641774 0.00001
NM_006734.4(HIVEP2):c.-640-49334A>G rs2128419086
NM_006734.4(HIVEP2):c.1023C>G (p.Ser341Arg)
NM_006734.4(HIVEP2):c.1067A>T (p.Asn356Ile)
NM_006734.4(HIVEP2):c.1131A>C (p.Lys377Asn)
NM_006734.4(HIVEP2):c.117del (p.Phe39fs)
NM_006734.4(HIVEP2):c.1189G>T (p.Asp397Tyr) rs869312847
NM_006734.4(HIVEP2):c.1214A>G (p.Glu405Gly)
NM_006734.4(HIVEP2):c.1291C>T (p.Arg431Trp)
NM_006734.4(HIVEP2):c.1315A>C (p.Ser439Arg)
NM_006734.4(HIVEP2):c.1418A>T (p.Asp473Val) rs2114660781
NM_006734.4(HIVEP2):c.1505C>G (p.Ser502Cys) rs1775601679
NM_006734.4(HIVEP2):c.1643C>T (p.Thr548Ile) rs760177241
NM_006734.4(HIVEP2):c.1781C>T (p.Ala594Val)
NM_006734.4(HIVEP2):c.185A>T (p.Gln62Leu)
NM_006734.4(HIVEP2):c.193G>C (p.Gly65Arg)
NM_006734.4(HIVEP2):c.1977G>T (p.Arg659Ser)
NM_006734.4(HIVEP2):c.2173G>C (p.Ala725Pro)
NM_006734.4(HIVEP2):c.2358G>A (p.Met786Ile)
NM_006734.4(HIVEP2):c.2367del (p.Gly791fs)
NM_006734.4(HIVEP2):c.2380CCT[1] (p.Pro795del)
NM_006734.4(HIVEP2):c.272C>T (p.Pro91Leu)
NM_006734.4(HIVEP2):c.2740C>G (p.Pro914Ala)
NM_006734.4(HIVEP2):c.2827C>T (p.Arg943Ter) rs869312841
NM_006734.4(HIVEP2):c.2853_2854del (p.Glu953fs) rs2114653975
NM_006734.4(HIVEP2):c.2857G>T (p.Glu953Ter) rs869312843
NM_006734.4(HIVEP2):c.2893C>T (p.Arg965Cys)
NM_006734.4(HIVEP2):c.2905C>T (p.Gln969Ter) rs869312842
NM_006734.4(HIVEP2):c.2925del (p.His975fs)
NM_006734.4(HIVEP2):c.3050C>G (p.Ser1017Cys) rs1334253551
NM_006734.4(HIVEP2):c.3064C>T (p.His1022Tyr) rs1775548729
NM_006734.4(HIVEP2):c.307C>T (p.His103Tyr)
NM_006734.4(HIVEP2):c.3281A>C (p.Gln1094Pro) rs1775541285
NM_006734.4(HIVEP2):c.3290T>C (p.Val1097Ala)
NM_006734.4(HIVEP2):c.330G>A (p.Met110Ile)
NM_006734.4(HIVEP2):c.3362A>G (p.His1121Arg)
NM_006734.4(HIVEP2):c.3383C>T (p.Pro1128Leu)
NM_006734.4(HIVEP2):c.3461_3492dup (p.Glu1165fs) rs1562505675
NM_006734.4(HIVEP2):c.3490C>T (p.Gln1164Ter)
NM_006734.4(HIVEP2):c.3556C>T (p.Gln1186Ter) rs878853269
NM_006734.4(HIVEP2):c.3678dup (p.Gln1227fs)
NM_006734.4(HIVEP2):c.3742C>T (p.Gln1248Ter) rs1562505335
NM_006734.4(HIVEP2):c.3813_3814inv (p.Ala1272Thr)
NM_006734.4(HIVEP2):c.3956C>T (p.Ala1319Val)
NM_006734.4(HIVEP2):c.4214C>G (p.Pro1405Arg) rs1775501318
NM_006734.4(HIVEP2):c.446G>A (p.Gly149Asp) rs1403489512
NM_006734.4(HIVEP2):c.4545CTC[1] (p.Ser1517del)
NM_006734.4(HIVEP2):c.4578_4579delinsCA (p.Pro1527Thr) rs2114645755
NM_006734.4(HIVEP2):c.4655del (p.Pro1552fs)
NM_006734.4(HIVEP2):c.4726T>C (p.Ser1576Pro) rs2114644719
NM_006734.4(HIVEP2):c.4781T>A (p.Leu1594Gln) rs1775480757
NM_006734.4(HIVEP2):c.4802A>T (p.His1601Leu) rs1775480229
NM_006734.4(HIVEP2):c.4828C>T (p.Arg1610Cys) rs1443329539
NM_006734.4(HIVEP2):c.5150dup (p.Leu1718fs) rs2114642634
NM_006734.4(HIVEP2):c.5188-1del
NM_006734.4(HIVEP2):c.5197G>A (p.Asp1733Asn)
NM_006734.4(HIVEP2):c.541C>T (p.His181Tyr)
NM_006734.4(HIVEP2):c.5456G>A (p.Arg1819His) rs1346207059
NM_006734.4(HIVEP2):c.5614dup (p.Glu1872fs) rs869312844
NM_006734.4(HIVEP2):c.5620+1GT[2] rs1775234925
NM_006734.4(HIVEP2):c.5653A>T (p.Lys1885Ter)
NM_006734.4(HIVEP2):c.5686C>T (p.Gln1896Ter) rs1775204653
NM_006734.4(HIVEP2):c.5689T>A (p.Phe1897Ile)
NM_006734.4(HIVEP2):c.5737del (p.Asp1913fs) rs878853251
NM_006734.4(HIVEP2):c.5764del (p.Asp1922fs)
NM_006734.4(HIVEP2):c.5791dup (p.Thr1931fs) rs2114611687
NM_006734.4(HIVEP2):c.5856dup (p.Val1953fs) rs2114611483
NM_006734.4(HIVEP2):c.5890G>T (p.Gly1964Ter) rs2114611238
NM_006734.4(HIVEP2):c.5900del (p.Ser1967fs) rs1064796034
NM_006734.4(HIVEP2):c.5935C>T (p.Arg1979Ter) rs1554275163
NM_006734.4(HIVEP2):c.601C>A (p.Pro201Thr) rs1775628563
NM_006734.4(HIVEP2):c.6058A>C (p.Ser2020Arg)
NM_006734.4(HIVEP2):c.6062G>A (p.Cys2021Tyr)
NM_006734.4(HIVEP2):c.6104C>T (p.Ser2035Phe)
NM_006734.4(HIVEP2):c.6197C>T (p.Pro2066Leu)
NM_006734.4(HIVEP2):c.6257G>A (p.Arg2086Lys)
NM_006734.4(HIVEP2):c.6266C>T (p.Ser2089Leu)
NM_006734.4(HIVEP2):c.6277G>A (p.Glu2093Lys) rs1775183672
NM_006734.4(HIVEP2):c.6475G>T (p.Gly2159Ter) rs761993070
NM_006734.4(HIVEP2):c.6486G>C (p.Leu2162Phe)
NM_006734.4(HIVEP2):c.6517-5C>A
NM_006734.4(HIVEP2):c.6667C>T (p.Arg2223Ter) rs1562493608
NM_006734.4(HIVEP2):c.6698G>A (p.Gly2233Glu) rs1774991184
NM_006734.4(HIVEP2):c.6769A>G (p.Met2257Val)
NM_006734.4(HIVEP2):c.6964C>T (p.Gln2322Ter) rs1554274371
NM_006734.4(HIVEP2):c.7019C>T (p.Thr2340Met)
NM_006734.4(HIVEP2):c.7056G>A (p.Ala2352=)
NM_006734.4(HIVEP2):c.7072C>T (p.His2358Tyr) rs1774972546
NM_006734.4(HIVEP2):c.7310A>C (p.Asp2437Ala) rs1774961744
NM_006734.4(HIVEP2):c.868G>T (p.Glu290Ter)
NM_006734.4(HIVEP2):c.875C>T (p.Ser292Phe) rs778324073
NM_006734.4(HIVEP2):c.956T>G (p.Leu319Trp) rs373903307
NM_006734.4(HIVEP2):c.987T>G (p.Ile329Met)

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