ClinVar Miner

List of variants reported as likely pathogenic by GenomeConnect - Simons Searchlight

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Total variants: 122
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HGVS dbSNP gnomAD frequency
NM_001349338.3(FOXP1):c.179A>G (p.Gln60Arg) rs374060287 0.00005
GRCh37/hg19 12p13.1(chr12:13595477-13814290)x1
GRCh37/hg19 12p13.1(chr12:14042568-14133113)x1
GRCh37/hg19 12q24.21(chr12:116528514-116605811)x1
GRCh37/hg19 20p13(chr20:378136-547319)x1
NCBI36/hg18 12p13.1(chr12:13526418-13654145)x1
NCBI36/hg18 6p21.32(chr6:33451137-33543925)x1
NM_000834.5(GRIN2B):c.1177C>T (p.Arg393Ter) rs1555112396
NM_000834.5(GRIN2B):c.1496G>A (p.Gly499Glu) rs1949425904
NM_000834.5(GRIN2B):c.1555C>G (p.Arg519Gly) rs774592932
NM_000834.5(GRIN2B):c.1627G>C (p.Gly543Arg) rs1949419811
NM_000834.5(GRIN2B):c.1664G>T (p.Ser555Ile) rs1949369220
NM_000834.5(GRIN2B):c.1672G>A (p.Val558Ile) rs1057519004
NM_000834.5(GRIN2B):c.1832G>T (p.Gly611Val) rs1555110843
NM_000834.5(GRIN2B):c.1858G>A (p.Val620Met) rs796052571
NM_000834.5(GRIN2B):c.1937A>G (p.Tyr646Cys) rs1565474582
NM_000834.5(GRIN2B):c.2060C>T (p.Pro687Leu) rs1555103986
NM_000834.5(GRIN2B):c.2065G>A (p.Gly689Ser)
NM_000834.5(GRIN2B):c.2081A>G (p.Asn694Ser) rs1591612317
NM_000834.5(GRIN2B):c.2087G>A (p.Arg696His) rs1555103971
NM_000834.5(GRIN2B):c.2237G>A (p.Cys746Tyr) rs1948686092
NM_000834.5(GRIN2B):c.2341C>G (p.Leu781Val) rs1064796752
NM_000834.5(GRIN2B):c.2477G>A (p.Gly826Glu) rs1064794979
NM_000834.5(GRIN2B):c.2515G>A (p.Glu839Lys) rs1085307547
NM_000834.5(GRIN2B):c.2776C>T (p.Arg926Ter) rs1555102536
NM_001032221.6(STXBP1):c.125C>A (p.Ser42Tyr) rs1840655911
NM_001032221.6(STXBP1):c.1277T>C (p.Leu426Pro) rs886039435
NM_001032221.6(STXBP1):c.1438C>T (p.Pro480Ser) rs1841869298
NM_001032221.6(STXBP1):c.1473_1475del (p.Glu491del) rs1841944944
NM_001032221.6(STXBP1):c.1642A>G (p.Asn548Asp) rs1057523381
NM_001032221.6(STXBP1):c.1702+1G>A rs796053377
NM_001032221.6(STXBP1):c.224A>G (p.Tyr75Cys) rs796053352
NM_001032221.6(STXBP1):c.37+3A>C rs796053379
NM_001032221.6(STXBP1):c.37+3A>T rs796053379
NM_001032221.6(STXBP1):c.690_692dup (p.Leu231dup) rs1841284648
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln) rs794727970
NM_001032221.6(STXBP1):c.734A>G (p.His245Arg) rs587784453
NM_001032221.6(STXBP1):c.743C>T (p.Thr248Ile) rs1057524795
NM_001032221.6(STXBP1):c.902+4A>G rs1554777733
NM_001040142.2(SCN2A):c.1199C>G (p.Thr400Arg)
NM_001040142.2(SCN2A):c.1283A>G (p.Tyr428Cys) rs796053182
NM_001040142.2(SCN2A):c.1528C>T (p.Gln510Ter) rs1553569659
NM_001040142.2(SCN2A):c.1819C>T (p.Arg607Ter) rs746060762
NM_001040142.2(SCN2A):c.2538G>T (p.Leu846Phe) rs1699366355
NM_001040142.2(SCN2A):c.2642T>C (p.Leu881Pro) rs796053116
NM_001040142.2(SCN2A):c.2894T>G (p.Met965Arg) rs1699489239
NM_001040142.2(SCN2A):c.2932T>C (p.Phe978Leu) rs1700068946
NM_001040142.2(SCN2A):c.3217G>T (p.Gly1073Ter) rs1553584053
NM_001040142.2(SCN2A):c.3399G>C (p.Glu1133Asp) rs1700091023
NM_001040142.2(SCN2A):c.3778A>C (p.Lys1260Gln) rs1553591813
NM_001040142.2(SCN2A):c.3778A>G (p.Lys1260Glu) rs1553591813
NM_001040142.2(SCN2A):c.4223T>C (p.Val1408Ala) rs1574716488
NM_001040142.2(SCN2A):c.4264A>G (p.Lys1422Glu) rs796053137
NM_001040142.2(SCN2A):c.4369ATT[1] (p.Ile1458del) rs796053193
NM_001040142.2(SCN2A):c.4489TAC[1] (p.Tyr1498del) rs1701580892
NM_001040142.2(SCN2A):c.4502T>C (p.Met1501Thr) rs1553462227
NM_001040142.2(SCN2A):c.4506A>T (p.Lys1502Asn) rs1701581615
NM_001040142.2(SCN2A):c.4610_4614delinsGCATC (p.Ile1537_Met1538delinsSerIle) rs796053195
NM_001040142.2(SCN2A):c.4777G>A (p.Gly1593Arg) rs886041259
NM_001040142.2(SCN2A):c.4801G>T (p.Val1601Leu) rs1553463140
NM_001040142.2(SCN2A):c.4844_4845del (p.Ile1615fs) rs1574751309
NM_001040142.2(SCN2A):c.4877G>A (p.Arg1626Gln) rs796053155
NM_001040142.2(SCN2A):c.4896_4897insT (p.Ile1633fs) rs1702004667
NM_001040142.2(SCN2A):c.4904G>A (p.Arg1635Gln) rs1057520844
NM_001040142.2(SCN2A):c.4949T>C (p.Leu1650Pro) rs1702008435
NM_001040142.2(SCN2A):c.4984A>G (p.Asn1662Asp) rs1702009644
NM_001040142.2(SCN2A):c.5333A>T (p.Asn1778Ile) rs1574752700
NM_001040142.2(SCN2A):c.5339G>T (p.Ser1780Ile) rs796053163
NM_001040142.2(SCN2A):c.593T>A (p.Val198Asp) rs1697272829
NM_001040142.2(SCN2A):c.632G>A (p.Gly211Asp) rs1697311700
NM_001040142.2(SCN2A):c.710T>A (p.Ile237Asn) rs1697360061
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) rs387906686
NM_001170629.2(CHD8):c.3308G>T (p.Gly1103Val) rs1064795655
NM_001271.4(CHD2):c.2068C>T (p.His690Tyr) rs2053779726
NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu) rs1555444603
NM_001282531.3(ADNP):c.1046_1047del (p.Leu349fs) rs1981065982
NM_001282531.3(ADNP):c.1102C>T (p.Gln368Ter) rs886056775
NM_001282531.3(ADNP):c.201G>C (p.Gln67His) rs1555812161
NM_001282531.3(ADNP):c.2129dup (p.Ser711fs) rs1980913274
NM_001282531.3(ADNP):c.2287del (p.Ser763fs) rs1555809919
NM_001347721.2(DYRK1A):c.1373G>A (p.Arg458Gln) rs797045041
NM_001347721.2(DYRK1A):c.1378del (p.Gln460fs) rs1555990958
NM_001347721.2(DYRK1A):c.924+4_924+7del rs1555984461
NM_001349338.3(FOXP1):c.1458_1461dup (p.Leu488fs) rs2037704254
NM_006245.4(PPP2R5D):c.589G>A (p.Glu197Lys) rs863225081
NM_006245.4(PPP2R5D):c.590A>G (p.Glu197Gly) rs1339608272
NM_006245.4(PPP2R5D):c.599_602delinsGGCA (p.Glu200_Pro201delinsGlyHis) rs1762135444
NM_006245.4(PPP2R5D):c.751G>C (p.Asp251His) rs1762178916
NM_006245.4(PPP2R5D):c.752A>T (p.Asp251Val) rs1064794719
NM_006734.4(HIVEP2):c.1189G>T (p.Asp397Tyr) rs869312847
NM_006734.4(HIVEP2):c.5620+1GT[2] rs1775234925
NM_006734.4(HIVEP2):c.5935C>T (p.Arg1979Ter) rs1554275163
NM_006734.4(HIVEP2):c.6964C>T (p.Gln2322Ter) rs1554274371
NM_006772.3(SYNGAP1):c.1030G>A (p.Gly344Ser) rs1760893537
NM_006772.3(SYNGAP1):c.1676+5G>T rs1760935231
NM_006772.3(SYNGAP1):c.3406C>T (p.Gln1136Ter) rs1554122400
NM_006772.3(SYNGAP1):c.739C>T (p.Gln247Ter) rs1554120978
NM_015335.5(MED13L):c.5588+1G>A rs1135401810
NM_015335.5(MED13L):c.6556C>T (p.Gln2186Ter) rs1555239555
NM_015559.3(SETBP1):c.1765C>T (p.Arg589Ter) rs1568235086
NM_015559.3(SETBP1):c.2561C>T (p.Ser854Phe) rs2071362354
NM_015559.3(SETBP1):c.2572G>A (p.Glu858Lys) rs1178702025
NM_015559.3(SETBP1):c.265C>T (p.Gln89Ter) rs1568097623
NM_015559.3(SETBP1):c.4790_*9del (p.Ter1597TrpextTer?) rs2073929830
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln) rs886039764
NM_019597.5(HNRNPH2):c.629A>G (p.Tyr210Cys) rs1555988422
NM_019597.5(HNRNPH2):c.635G>C (p.Arg212Thr) rs1928842837
NM_030632.3(ASXL3):c.1579dup (p.Gln527fs) rs1599563269
NM_030632.3(ASXL3):c.1627_1628del (p.Leu543fs) rs1085307640
NM_030632.3(ASXL3):c.1849_1850del (p.Ser617fs) rs1599563995
NM_030632.3(ASXL3):c.3039+1G>A rs1555743003
NM_030632.3(ASXL3):c.3321_3325del (p.Lys1109fs) rs2067694639
NM_030632.3(ASXL3):c.3374_3377dup (p.Thr1127fs) rs2067695956
NM_030632.3(ASXL3):c.4022_4023del (p.Val1341fs) rs886041846
NM_030632.3(ASXL3):c.4072_4085del (p.Val1358fs) rs1555744039
NM_030632.3(ASXL3):c.4156del (p.Ser1386fs) rs2067717504
NM_030632.3(ASXL3):c.4330C>T (p.Arg1444Ter) rs1555744282
NM_030632.3(ASXL3):c.6165del (p.Lys2055fs) rs1555745616
NM_173495.3(PTCHD1):c.1985_1986del (p.Leu661_Tyr662insTer) rs1922892999
NM_177559.3(CSNK2A1):c.239G>A (p.Arg80His) rs1057518092
NM_177559.3(CSNK2A1):c.466G>T (p.Asp156Tyr) rs1568512728
NM_177559.3(CSNK2A1):c.468T>A (p.Asp156Glu) rs1064795110

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