ClinVar Miner

List of variants reported as pathogenic 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: 59
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HGVS dbSNP gnomAD frequency
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.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.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.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.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_001348323.3(TRIP12):c.1651C>T (p.Arg551Ter) rs1553636520
NM_001348323.3(TRIP12):c.3869del (p.Leu1290fs)
NM_001348323.3(TRIP12):c.4726del (p.Ser1576fs) rs2154256586
NM_001374828.1(ARID1B):c.2287G>T (p.Glu763Ter) rs1554294593
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_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_002397.5(MEF2C):c.-26C>T rs758320958
NM_004859.4(CLTC):c.187C>T (p.Arg63Ter) rs1598211790
NM_006852.6(TLK2):c.36del (p.Gln13fs) rs2144334211
NM_057175.5(NAA15):c.1754-2A>G rs1748397238
NM_057175.5(NAA15):c.2344C>T (p.Arg782Ter) rs1270628305
NM_152641.4(ARID2):c.4540_4541delinsGAA (p.Thr1514fs) rs2138180455

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