ClinVar Miner

List of variants studied for autosomal dominant non-syndromic intellectual disability by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (49):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 137
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HGVS dbSNP gnomAD frequency
NM_152641.4(ARID2):c.1472C>G (p.Thr491Ser) rs149755754 0.00071
NM_003072.5(SMARCA4):c.2176C>T (p.Arg726Cys) rs778049192 0.00004
NM_006734.4(HIVEP2):c.1339C>T (p.Arg447Cys) rs752550288 0.00003
NM_001374828.1(ARID1B):c.2711G>A (p.Ser904Asn) rs1159561275 0.00002
NM_001220.5(CAMK2B):c.1655del (p.Gly552fs) rs2096392954
NM_001220.5(CAMK2B):c.342-2A>G
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu) rs1554389088
NM_001321075.3(DLG4):c.1018_1025del (p.Phe340fs) rs1597453595
NM_001321075.3(DLG4):c.1083G>A (p.Ser361=) rs1227093654
NM_001321075.3(DLG4):c.1084-1G>T rs2142844164
NM_001321075.3(DLG4):c.1102C>T (p.Arg368Ter) rs1597452702
NM_001321075.3(DLG4):c.1195C>T (p.Arg399Ter) rs2069779430
NM_001321075.3(DLG4):c.1201G>T (p.Glu401Ter) rs2069778929
NM_001321075.3(DLG4):c.129del (p.Asp43fs)
NM_001321075.3(DLG4):c.1434dup (p.Asp479Ter) rs2069660959
NM_001321075.3(DLG4):c.1458del (p.Phe487fs) rs2142830670
NM_001321075.3(DLG4):c.1478+2T>C rs542036630
NM_001321075.3(DLG4):c.1478+4_1478+19del rs2142830394
NM_001321075.3(DLG4):c.1486C>T (p.Arg496Ter) rs2142828228
NM_001321075.3(DLG4):c.1489C>T (p.Arg497Ter) rs1567528092
NM_001321075.3(DLG4):c.148dup (p.Tyr50fs) rs869312859
NM_001321075.3(DLG4):c.1496G>A (p.Trp499Ter) rs1160688414
NM_001321075.3(DLG4):c.1497G>A (p.Trp499Ter) rs2142828170
NM_001321075.3(DLG4):c.1543+2T>C rs1597444614
NM_001321075.3(DLG4):c.1546C>T (p.Arg516Ter) rs778104648
NM_001321075.3(DLG4):c.1592-1G>A rs2142825829
NM_001321075.3(DLG4):c.1672A>T (p.Lys558Ter) rs2142825224
NM_001321075.3(DLG4):c.1693+1G>A rs2142825211
NM_001321075.3(DLG4):c.1714del (p.Glu572fs) rs1597442444
NM_001321075.3(DLG4):c.1757G>A (p.Arg586Gln) rs2142821925
NM_001321075.3(DLG4):c.1832C>T (p.Thr611Ile) rs2142821651
NM_001321075.3(DLG4):c.1849C>T (p.Arg617Ter) rs767384318
NM_001321075.3(DLG4):c.1855del (p.Val619fs) rs2142821587
NM_001321075.3(DLG4):c.1866+2T>C rs2142821543
NM_001321075.3(DLG4):c.1878C>A (p.Cys626Ter) rs1451196379
NM_001321075.3(DLG4):c.193G>T (p.Glu65Ter) rs2142888007
NM_001321075.3(DLG4):c.2074_2078delinsT (p.Val692fs) rs2142803273
NM_001321075.3(DLG4):c.210+1G>T rs2070315709
NM_001321075.3(DLG4):c.211-2A>G rs2142886707
NM_001321075.3(DLG4):c.218C>G (p.Ser73Ter) rs2142886687
NM_001321075.3(DLG4):c.243dup (p.Gly82fs) rs2142886600
NM_001321075.3(DLG4):c.319C>T (p.Gln107Ter) rs2142886433
NM_001321075.3(DLG4):c.326del (p.Gly109fs) rs1597472411
NM_001321075.3(DLG4):c.339del (p.Asn114fs) rs2142885916
NM_001321075.3(DLG4):c.478G>T (p.Glu160Ter) rs2142885279
NM_001321075.3(DLG4):c.525dup (p.Gly176fs) rs1597471063
NM_001321075.3(DLG4):c.530G>T (p.Gly177Val) rs2142884433
NM_001321075.3(DLG4):c.557A>T (p.Asp186Val) rs2142884288
NM_001321075.3(DLG4):c.592G>A (p.Gly198Ser) rs1326420629
NM_001321075.3(DLG4):c.605del (p.Lys202fs) rs1064795686
NM_001321075.3(DLG4):c.787+2T>C rs2142881946
NM_001321075.3(DLG4):c.792T>A (p.Tyr264Ter) rs2069827755
NM_001321075.3(DLG4):c.925C>T (p.Arg309Ter) rs1182894684
NM_001321075.3(DLG4):c.990C>T (p.Gly330=) rs769940216
NM_001321075.3(DLG4):c.995A>G (p.Asp332Gly) rs2142845915
NM_001348323.3(TRIP12):c.1651C>T (p.Arg551Ter) rs1553636520
NM_001348323.3(TRIP12):c.3774G>T (p.Glu1258Asp) rs1268798250
NM_001348323.3(TRIP12):c.3808del (p.Ser1270fs) rs2042881907
NM_001348323.3(TRIP12):c.3869del (p.Leu1290fs)
NM_001348323.3(TRIP12):c.4726del (p.Ser1576fs) rs2154256586
NM_001348323.3(TRIP12):c.6184C>T (p.Gln2062Ter) rs1387893497
NM_001374828.1(ARID1B):c.1293_1320dup (p.Tyr441fs)
NM_001374828.1(ARID1B):c.1737del (p.Ser580fs) rs1779022643
NM_001374828.1(ARID1B):c.1789C>T (p.Gln597Ter) rs1779032666
NM_001374828.1(ARID1B):c.1987-29742G>A rs1554261846
NM_001374828.1(ARID1B):c.2025C>G (p.Tyr675Ter) rs773640553
NM_001374828.1(ARID1B):c.2287G>T (p.Glu763Ter) rs1554294593
NM_001374828.1(ARID1B):c.2603_2606del (p.Arg868fs) rs1085307695
NM_001374828.1(ARID1B):c.2762-3_2762-2delinsAG
NM_001374828.1(ARID1B):c.2956del (p.Ser985_Met986insTer) rs2128634579
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs) rs1289067120
NM_001374828.1(ARID1B):c.5897G>T (p.Arg1966Leu) rs758748419
NM_001374828.1(ARID1B):c.5916dup (p.Ser1974fs) rs35441529
NM_001374828.1(ARID1B):c.6028del (p.Ala2010fs) rs1794490994
NM_001374828.1(ARID1B):c.6751C>T (p.Arg2251Ter) rs1554238072
NM_001379029.1(CERT1):c.395C>T (p.Ser132Leu) rs1064794019
NM_001386298.1(CIC):c.4612C>T (p.Gln1538Ter) rs2038020420
NM_001386298.1(CIC):c.6173C>G (p.Thr2058Ser) rs2038239333
NM_001386298.1(CIC):c.6793G>T (p.Glu2265Ter) rs752780532
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) rs869312823
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002074.5(GNB1):c.274G>A (p.Ala92Thr) rs1557889974
NM_002074.5(GNB1):c.280C>T (p.Pro94Ser) rs1646671069
NM_002074.5(GNB1):c.487G>A (p.Asp163Asn) rs2100546220
NM_002397.5(MEF2C):c.-26C>T rs758320958
NM_002397.5(MEF2C):c.110T>C (p.Val37Ala) rs1799677960
NM_002397.5(MEF2C):c.1247C>T (p.Ala416Val) rs768570497
NM_002397.5(MEF2C):c.177C>G (p.Ser59Arg) rs1554139743
NM_002397.5(MEF2C):c.402+145A>G rs1777617806
NM_002397.5(MEF2C):c.658C>T (p.Arg220Ter) rs1761818173
NM_003011.4(SET):c.573del (p.Trp192fs) rs1861625938
NM_003011.4(SET):c.74-3C>G rs775179714
NM_003072.5(SMARCA4):c.1462G>A (p.Glu488Lys) rs2145938426
NM_003072.5(SMARCA4):c.4891A>T (p.Ser1631Cys) rs1600649575
NM_003108.4(SOX11):c.309GCGGCT[3] (p.104RL[3]) rs2103276417
NM_003108.4(SOX11):c.347A>G (p.Tyr116Cys) rs587777479
NM_003108.4(SOX11):c.650_651insGA (p.Lys218fs) rs2103276750
NM_004068.4(AP2M1):c.73G>A (p.Gly25Arg) rs2109028363
NM_004859.4(CLTC):c.111del (p.Phe37fs) rs2143496899
NM_004859.4(CLTC):c.1592A>T (p.Gln531Leu) rs2032692372
NM_004859.4(CLTC):c.187C>T (p.Arg63Ter) rs1598211790
NM_005121.3(MED13):c.6117G>A (p.Lys2039=)
NM_005862.3(STAG1):c.2647A>T (p.Met883Leu) rs1937096737
NM_006015.6(ARID1A):c.1029_1043del (p.Ala345_Ala349del) rs751352361
NM_006015.6(ARID1A):c.261_275del (p.Ala88_Gly92del) rs2080257947
NM_006015.6(ARID1A):c.284del (p.Gly95fs)
NM_006015.6(ARID1A):c.3033G>T (p.Leu1011Phe) rs1553152590
NM_006015.6(ARID1A):c.4004+5G>A rs2081106391
NM_006015.6(ARID1A):c.4102-1G>C rs2081113293
NM_006015.6(ARID1A):c.849_854del (p.Gly284_Gly285del) rs766163118
NM_006734.4(HIVEP2):c.3064C>T (p.His1022Tyr) rs1775548729
NM_006734.4(HIVEP2):c.7072C>T (p.His2358Tyr) rs1774972546
NM_006852.6(TLK2):c.1971G>C (p.Lys657Asn) rs1413696538
NM_006852.6(TLK2):c.2042A>G (p.Gln681Arg) rs2147284271
NM_006852.6(TLK2):c.36del (p.Gln13fs) rs2144334211
NM_015981.4(CAMK2A):c.59G>A (p.Gly20Asp) rs2150315525
NM_017635.5(KMT5B):c.329C>G (p.Ser110Ter) rs1856779339
NM_018489.3(ASH1L):c.3838C>T (p.Arg1280Ter) rs1553265154
NM_019842.4(KCNQ5):c.1076G>A (p.Arg359His)
NM_019842.4(KCNQ5):c.1106C>T (p.Pro369Leu) rs1135401958
NM_024665.7(TBL1XR1):c.208G>C (p.Gly70Arg) rs1717114995
NM_024665.7(TBL1XR1):c.559G>C (p.Gly187Arg) rs2108492204
NM_024665.7(TBL1XR1):c.728G>A (p.Gly243Asp) rs2108480284
NM_057175.5(NAA15):c.1645C>T (p.Arg549Ter) rs1179904078
NM_057175.5(NAA15):c.1754-2A>G rs1748397238
NM_057175.5(NAA15):c.1772del (p.Glu591fs) rs2110977229
NM_057175.5(NAA15):c.2344C>T (p.Arg782Ter) rs1270628305
NM_057175.5(NAA15):c.655C>T (p.Gln219Ter)
NM_130797.4(DPP6):c.3G>A (p.Met1Ile)
NM_130797.4(DPP6):c.914G>A (p.Trp305Ter) rs1796104181
NM_138459.5(NUS1):c.26G>A (p.Trp9Ter) rs2114674308
NM_138459.5(NUS1):c.677dup (p.Leu226fs)
NM_138459.5(NUS1):c.869G>A (p.Arg290His) rs886037858
NM_152641.4(ARID2):c.1716-2A>G rs113548014
NM_152641.4(ARID2):c.4540_4541delinsGAA (p.Thr1514fs) rs2138180455
NM_205768.3(ZBTB18):c.1307G>A (p.Arg436His) rs1572531765
NM_205768.3(ZBTB18):c.1473C>G (p.Tyr491Ter) rs376898131

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