ClinVar Miner

List of variants reported as pathogenic for autosomal dominant non-syndromic intellectual disability by OMIM

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 171
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HGVS dbSNP gnomAD frequency
NM_018489.3(ASH1L):c.6238G>A (p.Val2080Ile) rs749494995 0.00002
NM_003073.5(SMARCB1):c.1130G>A (p.Arg377His) rs387906812 0.00001
NM_057175.5(NAA15):c.239_240del (p.His80fs) rs779009256 0.00001
NC_000003.11:g.136254742_136427833del
NC_000006.12:g.(117676084_117693041)_(117693166_117694030)del
NC_000007.13:g.153649777_153985995del
NC_000012.11:g.46125066_46230365del
NM_001220.5(CAMK2B):c.328G>A (p.Glu110Lys) rs1554402092
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu) rs1554389088
NM_001220.5(CAMK2B):c.638C>T (p.Pro213Leu) rs1554387293
NM_001220.5(CAMK2B):c.709G>A (p.Glu237Lys) rs1554386687
NM_001220.5(CAMK2B):c.852A>T (p.Arg284Ser) rs1554385203
NM_001220.5(CAMK2B):c.85C>T (p.Arg29Ter) rs1554434435
NM_001220.5(CAMK2B):c.901A>G (p.Lys301Glu) rs1554385111
NM_001321075.3(DLG4):c.1018_1025del (p.Phe340fs) rs1597453595
NM_001321075.3(DLG4):c.1102C>T (p.Arg368Ter) rs1597452702
NM_001321075.3(DLG4):c.148dup (p.Tyr50fs) rs869312859
NM_001321075.3(DLG4):c.1543+2T>C rs1597444614
NM_001321075.3(DLG4):c.1714del (p.Glu572fs) rs1597442444
NM_001321075.3(DLG4):c.925C>T (p.Arg309Ter) rs1182894684
NM_001348323.3(TRIP12):c.3204dup (p.Gly1069fs) rs1553620494
NM_001348323.3(TRIP12):c.3208C>T (p.Arg1070Ter) rs1575161164
NM_001348323.3(TRIP12):c.3482+1G>A rs1553616463
NM_001348323.3(TRIP12):c.3671_3672del (p.Val1223_Ser1224insTer) rs1553614300
NM_001348323.3(TRIP12):c.3968+1G>A rs1553612358
NM_001348323.3(TRIP12):c.5009G>A (p.Arg1670Gln) rs1553602821
NM_001348323.3(TRIP12):c.586_587del (p.Ser196fs) rs1553704327
NM_001374828.1(ARID1B):c.2113C>T (p.Gln705Ter) rs387907142
NM_001374828.1(ARID1B):c.3592C>T (p.Arg1198Ter) rs387907144
NM_001374828.1(ARID1B):c.3673C>T (p.Arg1225Ter) rs387907141
NM_001374828.1(ARID1B):c.3692_3693del (p.Lys1231fs) rs876657380
NM_001374828.1(ARID1B):c.4288C>T (p.Gln1430Ter) rs387907140
NM_001374828.1(ARID1B):c.4407T>A (p.Tyr1469Ter) rs748363079
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=) rs797045277
NM_001374828.1(ARID1B):c.4991_5000del (p.Gln1664fs) rs876657382
NM_001374828.1(ARID1B):c.5698A>T (p.Lys1900Ter) rs387907143
NM_001374828.1(ARID1B):c.5939_5942del (p.Lys1980fs) rs886041706
NM_001374828.1(ARID1B):c.6001del (p.Asp2001fs) rs876657381
NM_001374828.1(ARID1B):c.6832_6842del (p.Ser2278fs) rs876657379
NM_001379029.1(CERT1):c.395C>T (p.Ser132Leu) rs1064794019
NM_001386298.1(CIC):c.3784C>T (p.Arg1262Ter) rs1135401823
NM_001386298.1(CIC):c.4201C>T (p.Arg1401Trp) rs373584239
NM_001386298.1(CIC):c.4528_4535dup (p.Glu1513fs) rs1135401824
NM_001386298.1(CIC):c.5298_5313del (p.Pro1767fs) rs1555769968
NM_001386298.1(CIC):c.5701C>T (p.Gln1901Ter) rs1135401825
NM_002397.5(MEF2C):c.-26C>T rs758320958
NM_002397.5(MEF2C):c.-66A>T rs1350600010
NM_002397.5(MEF2C):c.-8C>T rs2153222958
NM_002397.5(MEF2C):c.113T>A (p.Leu38Gln) rs397514655
NM_002397.5(MEF2C):c.220G>T (p.Glu74Ter) rs2153074000
NM_002397.5(MEF2C):c.458del (p.Asn153fs) rs730882192
NM_002397.5(MEF2C):c.683C>G (p.Ser228Ter) rs267607233
NM_002397.5(MEF2C):c.80G>C (p.Gly27Ala) rs397514656
NM_002397.5(MEF2C):c.833del (p.Leu277_Leu278insTer) rs587783749
NM_002397.5(MEF2C):c.99dup (p.Glu34Ter) rs2153074822
NM_003011.4(SET):c.130_133del (p.Arg44fs) rs1554776342
NM_003011.4(SET):c.244T>G (p.Trp82Gly) rs1554776500
NM_003011.4(SET):c.313C>T (p.His105Tyr) rs1564360978
NM_003011.4(SET):c.650_651dup (p.Gln218fs) rs1554776933
NM_003011.4(SET):c.660_662del (p.Tyr220_Leu221delinsTer) rs1554776938
NM_003072.5(SMARCA4):c.1633AAG[1] (p.Lys546del) rs876657378
NM_003072.5(SMARCA4):c.2576C>T (p.Thr859Met) rs281875226
NM_003072.5(SMARCA4):c.2653C>T (p.Arg885Cys) rs281875227
NM_003072.5(SMARCA4):c.2761C>T (p.Leu921Phe) rs281875228
NM_003072.5(SMARCA4):c.3032T>C (p.Met1011Thr) rs281875229
NM_003072.5(SMARCA4):c.3469C>G (p.Arg1157Gly) rs281875230
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del) rs875989800
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_003079.5(SMARCE1):c.218A>C (p.Tyr73Ser) rs387906857
NM_003079.5(SMARCE1):c.218A>G (p.Tyr73Cys) rs387906857
NM_003108.4(SOX11):c.139G>A (p.Gly47Ser)
NM_003108.4(SOX11):c.146T>A (p.Ile49Asn)
NM_003108.4(SOX11):c.178T>C (p.Ser60Pro) rs587777480
NM_003108.4(SOX11):c.226A>G (p.Asn76Asp) rs1665660543
NM_003108.4(SOX11):c.299G>C (p.Arg100Pro) rs1064794628
NM_003108.4(SOX11):c.337T>C (p.Tyr113His)
NM_003108.4(SOX11):c.347A>G (p.Tyr116Cys) rs587777479
NM_003108.4(SOX11):c.820A>T (p.Lys274Ter)
NM_004068.4(AP2M1):c.508C>T (p.Arg170Trp) rs1577059692
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
NM_004859.4(CLTC):c.2737_2738dup (p.Asp913fs) rs797044884
NM_004859.4(CLTC):c.3140T>C (p.Leu1047Pro) rs1555607159
NM_004859.4(CLTC):c.4575dup (p.Glu1526fs) rs1555607621
NM_004859.4(CLTC):c.4663C>T (p.Gln1555Ter) rs1555607682
NM_004859.4(CLTC):c.977_980del (p.Ser326fs) rs1555604778
NM_005112.2(WDR1):c.4198C>T rs540561511
NM_005121.3(MED13):c.1745T>A (p.Leu582Ter) rs780070113
NM_005121.3(MED13):c.4487del (p.Thr1496fs) rs2080047817
NM_005121.3(MED13):c.977C>T (p.Thr326Ile) rs1603405457
NM_005862.3(STAG1):c.1118G>A (p.Arg373Gln) rs1376334317
NM_005862.3(STAG1):c.1433A>C (p.His478Pro) rs1553722309
NM_005862.3(STAG1):c.1460_1464dup (p.Trp489fs) rs1553722294
NM_005862.3(STAG1):c.1736dup (p.Ser580fs) rs1553718528
NM_005862.3(STAG1):c.646A>G (p.Arg216Gly) rs1553738686
NM_006015.6(ARID1A):c.1113del (p.Gln372fs) rs875989848
NM_006015.6(ARID1A):c.2758C>T (p.Gln920Ter) rs387906845
NM_006015.6(ARID1A):c.31_56del (p.Ser11fs) rs797045262
NM_006015.6(ARID1A):c.3679G>T (p.Glu1227Ter) rs875989849
NM_006015.6(ARID1A):c.4003C>T (p.Arg1335Ter) rs387906846
NM_006015.6(ARID1A):c.5965C>T (p.Arg1989Ter) rs879255270
NM_006734.4(HIVEP2):c.2827C>T (p.Arg943Ter) rs869312841
NM_006734.4(HIVEP2):c.2857G>T (p.Glu953Ter) rs869312843
NM_006734.4(HIVEP2):c.3556C>T (p.Gln1186Ter) rs878853269
NM_006734.4(HIVEP2):c.5614dup (p.Glu1872fs) rs869312844
NM_006734.4(HIVEP2):c.5737del (p.Asp1913fs) rs878853251
NM_006734.4(HIVEP2):c.6475G>T (p.Gly2159Ter) rs761993070
NM_006852.6(TLK2):c.1460+2T>G rs1555651572
NM_006852.6(TLK2):c.1720+1G>T rs1555660806
NM_006852.6(TLK2):c.2092C>T (p.Arg698Ter) rs1555669421
NM_006852.6(TLK2):c.890G>A (p.Gly297Asp) rs1555639254
NM_006852.6(TLK2):c.989C>A (p.Ser330Ter) rs1555644480
NM_007118.4(TRIO):c.3232C>G (p.Arg1078Gly) rs1554065887
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
NM_007118.4(TRIO):c.3233G>A (p.Arg1078Gln) rs1745369142
NM_007118.4(TRIO):c.3239A>T (p.Asn1080Ile) rs879255628
NM_015981.4(CAMK2A):c.293T>C (p.Phe98Ser) rs1554122526
NM_015981.4(CAMK2A):c.327G>C (p.Glu109Asp) rs1287121256
NM_015981.4(CAMK2A):c.548A>T (p.Glu183Val) rs1554122129
NM_015981.4(CAMK2A):c.635C>A (p.Pro212Gln) rs926027867
NM_015981.4(CAMK2A):c.704C>T (p.Pro235Leu) rs864309606
NM_015981.4(CAMK2A):c.817-1G>A rs1554121878
NM_015981.4(CAMK2A):c.845A>G (p.His282Arg) rs1554121875
NM_015981.4(CAMK2A):c.856A>C (p.Thr286Pro) rs1554121872
NM_017491.5(WDR1):c.392T>G (p.Phe131Cys) rs1712445918
NM_017635.5(KMT5B):c.1557_1558del (p.Asn520fs) rs1555023232
NM_017635.5(KMT5B):c.219del (p.Ala74fs) rs1565240833
NM_017635.5(KMT5B):c.559C>T (p.Arg187Ter) rs114727354
NM_017635.5(KMT5B):c.725del (p.Leu242fs) rs1555028154
NM_017635.5(KMT5B):c.791G>C (p.Trp264Ser) rs1555028104
NM_018489.3(ASH1L):c.2170G>T (p.Ala724Ser) rs1293246328
NM_018489.3(ASH1L):c.3705del (p.Glu1236fs) rs1553265189
NM_018489.3(ASH1L):c.6427G>T (p.Glu2143Ter) rs1553247374
NM_018489.3(ASH1L):c.7764_7768dup (p.Asp2590fs) rs1553242856
NM_018489.3(ASH1L):c.8356G>C (p.Ala2786Pro) rs1553241570
NM_018489.3(ASH1L):c.8854dup (p.Arg2952fs) rs775592405
NM_019842.4(KCNQ5):c.1021C>A (p.Leu341Ile) rs1135401956
NM_019842.4(KCNQ5):c.1106C>G (p.Pro369Arg) rs1135401958
NM_019842.4(KCNQ5):c.1286G>T (p.Ser429Ile) rs1135401957
NM_019842.4(KCNQ5):c.434T>G (p.Val145Gly) rs1135401955
NM_024665.7(TBL1XR1):c.1189del (p.Ile397fs) rs2108414289
NM_024665.7(TBL1XR1):c.209G>A (p.Gly70Asp) rs786205859
NM_024665.7(TBL1XR1):c.734A>G (p.Tyr245Cys) rs878854401
NM_024665.7(TBL1XR1):c.845T>C (p.Leu282Pro) rs1716457622
NM_057175.4(NAA15):c.228_232del (p.Asp76Glufs) rs1380822792
NM_057175.5(NAA15):c.1009_1012del (p.Glu337fs) rs1553996086
NM_057175.5(NAA15):c.1450T>C (p.Cys484Arg) rs2110956953
NM_057175.5(NAA15):c.163del (p.Thr55fs) rs1553994814
NM_057175.5(NAA15):c.1695T>A (p.Tyr565Ter) rs1553997065
NM_057175.5(NAA15):c.2086A>T (p.Lys696Ter) rs1553998565
NM_057175.5(NAA15):c.2441T>C (p.Leu814Pro) rs2111013293
NM_057175.5(NAA15):c.334G>A (p.Asp112Asn) rs889543097
NM_057175.5(NAA15):c.913A>T (p.Lys305Ter) rs1553996072
NM_130797.4(DPP6):c.1153A>C (p.Met385Leu) rs786205143
NM_138459.5(NUS1):c.128_141dup (p.Val48fs) rs1554200722
NM_138459.5(NUS1):c.415+1G>A rs1772975334
NM_138459.5(NUS1):c.734G>T (p.Gly245Val) rs1773460199
NM_138459.5(NUS1):c.743del (p.Asp248fs) rs1554202698
NM_138459.5(NUS1):c.752T>G (p.Leu251Ter) rs1773460504
NM_152641.4(ARID2):c.1028T>A (p.Leu343Ter) rs796052242
NM_152641.4(ARID2):c.156del (p.Arg53fs) rs1555139310
NM_152641.4(ARID2):c.2536del (p.Val846fs) rs796052240
NM_152641.4(ARID2):c.3411_3412del (p.Gly1139fs) rs1555155252
NM_152641.4(ARID2):c.4318C>T (p.Gln1440Ter) rs772995852
NM_152641.4(ARID2):c.4441del (p.His1481fs) rs796052241
NM_205768.3(ZBTB18):c.1183C>T (p.Gln395Ter) rs875989786
NM_205768.3(ZBTB18):c.1382A>G (p.Asn461Ser) rs797044885
NM_205768.3(ZBTB18):c.1390C>T (p.Arg464Cys) rs750922282
NM_205768.3(ZBTB18):c.1391G>A (p.Arg464His) rs1558149913
NM_205768.3(ZBTB18):c.397G>T (p.Glu133Ter) rs398122406
NM_205768.3(ZBTB18):c.583C>T (p.Arg195Ter) rs1064792999
NM_205768.3(ZBTB18):c.943_944del (p.Arg315fs) rs1085307108

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