ClinVar Miner

List of variants reported as pathogenic for intellectual disability, autosomal dominant 1

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 2q22.3-23.1(chr2:148698834-148954778)
MBD5, THR157GLNFSTER4
NC_000002.10:g.(148432391_148447295)_(148651456_148737275)del
NC_000002.10:g.146798229_150310317del
NC_000002.10:g.148447496_149377297del
NC_000002.11:g.(?_148730288)_(149270510_?)del
NC_000002.11:g.(?_149216328)_(149221508_?)dup
NC_000002.11:g.(?_149216328)_(149228050_?)del
NC_000002.12:g.(?_148458739)_(148463939_?)del
NC_000002.12:g.(?_148458739)_(148512961_?)del
NC_000002.12:g.(?_148458759)_(148512941_?)del
NG_017003.3:g.262835_474705del
NM_001378120.1(MBD5):c.1000del (p.Gln334fs) rs1574459612
NM_001378120.1(MBD5):c.1023_1024delinsGA (p.Pro342Thr)
NM_001378120.1(MBD5):c.1025dup (p.Ser343fs) rs1553518511
NM_001378120.1(MBD5):c.1188del (p.Met396fs) rs2105630210
NM_001378120.1(MBD5):c.1379C>A (p.Ser460Ter) rs878910680
NM_001378120.1(MBD5):c.143del (p.Glu48fs) rs2105571301
NM_001378120.1(MBD5):c.1449del (p.Ser484fs) rs2105633124
NM_001378120.1(MBD5):c.1499_1500dup (p.Arg501fs) rs2105633619
NM_001378120.1(MBD5):c.14_15del (p.Lys5fs)
NM_001378120.1(MBD5):c.150del (p.Thr52fs) rs398122412
NM_001378120.1(MBD5):c.1648del (p.Ser550fs) rs2105635449
NM_001378120.1(MBD5):c.1759C>T (p.Gln587Ter) rs1559087186
NM_001378120.1(MBD5):c.180C>A (p.Cys60Ter) rs2105571544
NM_001378120.1(MBD5):c.188dup (p.Glu65fs)
NM_001378120.1(MBD5):c.196dup (p.Cys66fs)
NM_001378120.1(MBD5):c.2113del (p.Leu705fs) rs2105639771
NM_001378120.1(MBD5):c.217-1G>C rs1707171202
NM_001378120.1(MBD5):c.2299_2302del (p.Asn767fs) rs1060501153
NM_001378120.1(MBD5):c.2321del (p.Pro774fs) rs1553518752
NM_001378120.1(MBD5):c.2356C>T (p.Gln786Ter) rs2105642195
NM_001378120.1(MBD5):c.2437C>T (p.Gln813Ter) rs1057524832
NM_001378120.1(MBD5):c.2586_2667del (p.Ser863fs) rs1559094754
NM_001378120.1(MBD5):c.2633del (p.Pro878fs) rs1553519853
NM_001378120.1(MBD5):c.3572del (p.Thr1190_Leu1191insTer) rs2105093302
NM_001378120.1(MBD5):c.3598C>T (p.Gln1200Ter)
NM_001378120.1(MBD5):c.3598del (p.Gln1200fs)
NM_001378120.1(MBD5):c.3726_3729dup (p.Ala1244fs)
NM_001378120.1(MBD5):c.3769del (p.Asp1257fs) rs2105123510
NM_001378120.1(MBD5):c.3790A>T (p.Arg1264Ter) rs1450731543
NM_001378120.1(MBD5):c.379del (p.Ser127fs) rs1553517984
NM_001378120.1(MBD5):c.3828dup (p.Asn1277fs) rs2105124073
NM_001378120.1(MBD5):c.3907C>T (p.Gln1303Ter) rs2105124818
NM_001378120.1(MBD5):c.397+1G>A rs1553517991
NM_001378120.1(MBD5):c.397+2T>C
NM_001378120.1(MBD5):c.4429C>T (p.Gln1477Ter) rs1681473896
NM_001378120.1(MBD5):c.4585C>T (p.Arg1529Ter) rs2105130509
NM_001378120.1(MBD5):c.469_476del (p.Thr157fs) rs2105622677
NM_001378120.1(MBD5):c.4704_4728dup (p.Ser1577delinsLeuGlnTrpArgLeuTer)
NM_001378120.1(MBD5):c.4729del (p.Ser1577fs) rs2105131625
NM_001378120.1(MBD5):c.4765_4766insGGCACACACA (p.Lys1589fs)
NM_001378120.1(MBD5):c.4868G>A (p.Trp1623Ter)
NM_001378120.1(MBD5):c.4869G>A (p.Trp1623Ter)
NM_001378120.1(MBD5):c.4934C>A (p.Ser1645Ter) rs1559099927
NM_001378120.1(MBD5):c.4946del (p.Ser1649fs)
NM_001378120.1(MBD5):c.5154del (p.Lys1719fs) rs1060501151
NM_001378120.1(MBD5):c.535_547del (p.Gly179fs) rs1680665652
NM_001378120.1(MBD5):c.598C>T (p.Arg200Ter) rs1293936199
NM_001378120.1(MBD5):c.598dup (p.Arg200fs)
NM_001378120.1(MBD5):c.698del (p.Gly233fs) rs1680673822
NM_001378120.1(MBD5):c.707C>G (p.Ser236Ter) rs766179352
NM_001378120.1(MBD5):c.710_725del (p.Ile237fs) rs2105625178
NM_001378120.1(MBD5):c.728del (p.Pro243fs) rs1680676671
NM_001378120.1(MBD5):c.74G>A (p.Trp25Ter)
NM_001378120.1(MBD5):c.76C>T (p.Gln26Ter)
NM_001378120.1(MBD5):c.947del (p.Asn316fs) rs1680684706
NM_003024.3(ITSN1):c.4248_4249del (p.Cys1417fs)

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