ClinVar Miner

List of variants reported as pathogenic by GenomeConnect - Simons Searchlight

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ClinVar version:
Total variants: 222
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HGVS dbSNP gnomAD frequency
NM_000834.5(GRIN2B):c.1555C>T (p.Arg519Ter) rs774592932 0.00001
NM_001170629.2(CHD8):c.4378C>T (p.Arg1460Ter) rs1454466097 0.00001
GRCh37/hg19 12q24.21(chr12:116673140-116676995)x1
GRCh37/hg19 13q34(chr13:114893728-115093115)x1
GRCh37/hg19 21q22.13(chr21:38744158-38830251)x1
GRCh37/hg19 2q24.3(chr2:166060478-166349787)x1
GRCh37/hg19 3p24.1-23(chr3:30863773-31433693)x1
GRCh37/hg19 9q34.11(chr9:130412438-131423964)x1
GRCh37/hg19 9q34.11(chr9:130431762-130432190)x1
GRCh37/hg19 Xp22.11(chrX:23395622-23463363)x0
NCBI36/hg18 21q22.13-22.2(chr21:37662974-39195976)x1
NCBI36/hg18 21q22.13-22.2(chr21:37662974-39236719)x1
NM_000834.5(GRIN2B):c.1547A>G (p.Asn516Ser) rs886041295
NM_000834.5(GRIN2B):c.1576T>C (p.Ser526Pro) rs1131691702
NM_000834.5(GRIN2B):c.1823T>A (p.Leu608Ter) rs886043237
NM_000834.5(GRIN2B):c.2252T>C (p.Ile751Thr) rs876661055
NM_000834.5(GRIN2B):c.2459G>A (p.Gly820Glu) rs797044849
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala) rs797044849
NM_000834.5(GRIN2B):c.2461G>T (p.Val821Phe) rs1948651947
NM_000834.5(GRIN2B):c.2539C>T (p.Arg847Ter) rs879253931
NM_000834.5(GRIN2B):c.706G>T (p.Glu236Ter) rs1555133077
NM_001032221.6(STXBP1):c.1061G>A (p.Cys354Tyr) rs796053365
NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter) rs796053366
NM_001032221.6(STXBP1):c.1162C>T (p.Arg388Ter) rs121918321
NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys) rs796053367
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_001032221.6(STXBP1):c.124T>C (p.Ser42Pro) rs886041668
NM_001032221.6(STXBP1):c.1381_1390dup (p.Arg464fs) rs1554778657
NM_001032221.6(STXBP1):c.1569_1570del (p.His523fs) rs1554778928
NM_001032221.6(STXBP1):c.1574del (p.Asn525fs) rs1842039949
NM_001032221.6(STXBP1):c.1597del (p.Ser533fs) rs1554778930
NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys) rs796053373
NM_001032221.6(STXBP1):c.170-2A>G rs1554776674
NM_001032221.6(STXBP1):c.260_261dup (p.Ile88fs)
NM_001032221.6(STXBP1):c.298del (p.Arg100fs) rs1554776842
NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter) rs794727792
NM_001032221.6(STXBP1):c.568C>T (p.Arg190Trp)
NM_001032221.6(STXBP1):c.663+1G>C rs1841240415
NM_001032221.6(STXBP1):c.685C>T (p.Gln229Ter) rs1554777470
NM_001032221.6(STXBP1):c.703C>T (p.Arg235Ter) rs796053359
NM_001032221.6(STXBP1):c.794+5G>A rs1057520631
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_001032221.6(STXBP1):c.875G>A (p.Arg292His) rs796053361
NM_001032221.6(STXBP1):c.875G>C (p.Arg292Pro) rs796053361
NM_001032221.6(STXBP1):c.902+1G>C rs886041978
NM_001032221.6(STXBP1):c.989dup (p.Met330fs) rs1841564743
NM_001040142.2(SCN2A):c.1027G>C (p.Asp343His) rs796053175
NM_001040142.2(SCN2A):c.1289A>C (p.Glu430Ala) rs796053183
NM_001040142.2(SCN2A):c.1456_1457del (p.Ser486fs) rs1697695664
NM_001040142.2(SCN2A):c.167T>A (p.Leu56Ter) rs1553564213
NM_001040142.2(SCN2A):c.2388+1G>A rs1698674881
NM_001040142.2(SCN2A):c.252C>A (p.Tyr84Ter) rs143065769
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001040142.2(SCN2A):c.2567G>A (p.Arg856Gln) rs797045942
NM_001040142.2(SCN2A):c.2622_2631del (p.Ile874fs) rs1064793850
NM_001040142.2(SCN2A):c.2635G>A (p.Gly879Arg) rs796053115
NM_001040142.2(SCN2A):c.2638G>T (p.Ala880Ser) rs1574641522
NM_001040142.2(SCN2A):c.2645G>A (p.Gly882Glu) rs1553579305
NM_001040142.2(SCN2A):c.2809C>T (p.Arg937Cys) rs796053197
NM_001040142.2(SCN2A):c.2877C>A (p.Cys959Ter) rs746163041
NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys) rs796053126
NM_001040142.2(SCN2A):c.304C>T (p.Arg102Ter) rs387906683
NM_001040142.2(SCN2A):c.3107_3108delinsG (p.Leu1036fs) rs1700077715
NM_001040142.2(SCN2A):c.3374del (p.Glu1125fs) rs587780450
NM_001040142.2(SCN2A):c.3391del (p.Ser1131fs) rs1064796203
NM_001040142.2(SCN2A):c.3464_3468del (p.Glu1155fs) rs1574691534
NM_001040142.2(SCN2A):c.386+2T>C rs1553564400
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)
NM_001040142.2(SCN2A):c.3956G>T (p.Arg1319Leu) rs121917753
NM_001040142.2(SCN2A):c.4308+1G>A rs886039648
NM_001040142.2(SCN2A):c.4308+2T>C rs1553461672
NM_001040142.2(SCN2A):c.4406_4409delinsATGT (p.Ile1469_Gly1470delinsAsnVal) rs1701554261
NM_001040142.2(SCN2A):c.4494del (p.Tyr1497_Tyr1498insTer) rs1553462224
NM_001040142.2(SCN2A):c.4591C>T (p.Gln1531Ter) rs1553463032
NM_001040142.2(SCN2A):c.4726G>A (p.Gly1576Arg) rs869312664
NM_001040142.2(SCN2A):c.4727del (p.Gly1576fs) rs1553463096
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
NM_001040142.2(SCN2A):c.5272A>C (p.Ser1758Arg) rs1064794005
NM_001040142.2(SCN2A):c.5318C>A (p.Ala1773Glu) rs1553463602
NM_001040142.2(SCN2A):c.5318C>T (p.Ala1773Val) rs1553463602
NM_001040142.2(SCN2A):c.5623C>T (p.Leu1875Phe) rs1553463764
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
NM_001040142.2(SCN2A):c.605+1G>A
NM_001040142.2(SCN2A):c.605+1G>T rs796053171
NM_001040142.2(SCN2A):c.823C>T (p.Arg275Ter) rs181327458
NM_001170629.2(CHD8):c.2345del (p.His782fs) rs886039692
NM_001170629.2(CHD8):c.2854C>T (p.Arg952Ter) rs1131691548
NM_001170629.2(CHD8):c.5607dup (p.Asp1870fs) rs774152851
NM_001271.4(CHD2):c.2699G>A (p.Arg900Gln) rs1567149946
NM_001271.4(CHD2):c.2963C>G (p.Ser988Ter) rs2053970405
NM_001271.4(CHD2):c.4173dup (p.Gln1392fs) rs749969667
NM_001282531.3(ADNP):c.1033C>T (p.Gln345Ter) rs1981068436
NM_001282531.3(ADNP):c.190dup (p.Thr64fs) rs886041741
NM_001282531.3(ADNP):c.2157C>A (p.Tyr719Ter) rs587777526
NM_001282531.3(ADNP):c.2213C>A (p.Ser738Ter) rs779340209
NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs) rs587777523
NM_001282531.3(ADNP):c.2865_2868del (p.Ser955fs) rs1980777288
NM_001282531.3(ADNP):c.484C>T (p.Gln162Ter) rs1981147033
NM_001282531.3(ADNP):c.819del (p.Lys274fs) rs886041498
NM_001282531.3(ADNP):c.940_941del (p.Leu314fs) rs1981083173
NM_001347721.2(DYRK1A):c.1008G>A (p.Trp336Ter) rs1555985642
NM_001347721.2(DYRK1A):c.1221del (p.Lys407fs) rs1064794006
NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter) rs724159953
NM_001347721.2(DYRK1A):c.1373dup (p.Ile459fs) rs1555990946
NM_001347721.2(DYRK1A):c.1626C>A (p.Cys542Ter) rs376106351
NM_001347721.2(DYRK1A):c.220dup (p.Gln74fs) rs1555979106
NM_001347721.2(DYRK1A):c.301-2A>G rs2052604858
NM_001347721.2(DYRK1A):c.322C>T (p.Arg108Ter) rs1057518204
NM_001347721.2(DYRK1A):c.424_439del (p.Asn142fs) rs2052610181
NM_001347721.2(DYRK1A):c.434del (p.Lys145fs) rs797044521
NM_001347721.2(DYRK1A):c.545_548del (p.Lys182fs) rs1064796367
NM_001347721.2(DYRK1A):c.630C>A (p.Tyr210Ter) rs746177928
NM_001347721.2(DYRK1A):c.658_659del (p.Met220fs) rs1555984102
NM_001347721.2(DYRK1A):c.664C>T (p.Arg222Ter) rs780441716
NM_001347721.2(DYRK1A):c.678_680delinsAC (p.Cys226_Leu227delinsTer) rs1131691946
NM_001349338.3(FOXP1):c.1393A>G (p.Arg465Gly) rs869025202
NM_001349338.3(FOXP1):c.1420_1427del (p.Ile474fs) rs2037850257
NM_001349338.3(FOXP1):c.1489C>T (p.Arg497Ter) rs775136381
NM_001349338.3(FOXP1):c.1630C>T (p.Arg544Ter)
NM_001904.4(CTNNB1):c.1603C>T (p.Arg535Ter) rs886039332
NM_001904.4(CTNNB1):c.1759C>T (p.Arg587Ter) rs1064796453
NM_001904.4(CTNNB1):c.1925_1926del (p.Glu642fs) rs1553632361
NM_001904.4(CTNNB1):c.198G>A (p.Trp66Ter) rs886041553
NM_001904.4(CTNNB1):c.211dup (p.Ser71fs) rs1575315766
NM_006245.4(PPP2R5D):c.1258G>A (p.Glu420Lys) rs863225080
NM_006245.4(PPP2R5D):c.253C>T (p.Arg85Ter) rs1762094766
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys) rs863225079
NM_006245.4(PPP2R5D):c.619T>C (p.Trp207Arg) rs869320691
NM_006245.4(PPP2R5D):c.632A>C (p.Gln211Pro) rs1762136390
NM_006245.4(PPP2R5D):c.758G>C (p.Arg253Pro) rs1131691266
NM_006734.4(HIVEP2):c.2827C>T (p.Arg943Ter) rs869312841
NM_006734.4(HIVEP2):c.2905C>T (p.Gln969Ter) rs869312842
NM_006734.4(HIVEP2):c.3742C>T (p.Gln1248Ter) rs1562505335
NM_006734.4(HIVEP2):c.5686C>T (p.Gln1896Ter) rs1775204653
NM_006734.4(HIVEP2):c.5900del (p.Ser1967fs) rs1064796034
NM_006734.4(HIVEP2):c.6667C>T (p.Arg2223Ter) rs1562493608
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu) rs397514670
NM_006772.3(SYNGAP1):c.1861C>T (p.Arg621Ter) rs1060503386
NM_006772.3(SYNGAP1):c.2294+1G>T rs1554121970
NM_006772.3(SYNGAP1):c.2899C>T (p.Arg967Ter) rs749188610
NM_006772.3(SYNGAP1):c.333del (p.Lys114fs) rs1131691979
NM_006772.3(SYNGAP1):c.3408+1G>T rs1554122402
NM_006772.3(SYNGAP1):c.3415C>T (p.Gln1139Ter) rs1554122455
NM_006772.3(SYNGAP1):c.3583-9G>A rs1554122689
NM_006772.3(SYNGAP1):c.3718C>T (p.Arg1240Ter) rs869312955
NM_006772.3(SYNGAP1):c.427C>T (p.Arg143Ter) rs397514741
NM_006772.3(SYNGAP1):c.435_447dup (p.Leu150fs) rs1777196665
NM_006772.3(SYNGAP1):c.490C>T (p.Arg164Ter) rs1057518352
NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs) rs797045027
NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs) rs886039902
NM_013275.6(ANKRD11):c.2536del (p.Ser846fs) rs1597460246
NM_013275.6(ANKRD11):c.6212C>G (p.Ser2071Ter) rs763407068
NM_013275.6(ANKRD11):c.7569+1G>A rs797044890
NM_015335.5(MED13L):c.1690C>T (p.Arg564Ter) rs1555247936
NM_015335.5(MED13L):c.1858_1860delinsCTCGAACA (p.Gly620fs) rs1555247853
NM_015335.5(MED13L):c.1A>G (p.Met1Val) rs1131691818
NM_015335.5(MED13L):c.2597C>T (p.Pro866Leu) rs1555246145
NM_015335.5(MED13L):c.2911_2914del (p.Leu971fs) rs1064796611
NM_015335.5(MED13L):c.3469C>T (p.Gln1157Ter) rs1555245108
NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter) rs1592919048
NM_015335.5(MED13L):c.4083del (p.Gln1361fs) rs1877748039
NM_015335.5(MED13L):c.4120del (p.Glu1374fs) rs1877698147
NM_015335.5(MED13L):c.4403dup (p.Thr1470fs) rs1131691764
NM_015335.5(MED13L):c.4716del (p.Pro1573fs) rs1064796113
NM_015335.5(MED13L):c.5444del (p.Thr1815fs) rs879255407
NM_015335.5(MED13L):c.5698C>T (p.Arg1900Ter) rs1876853109
NM_015335.5(MED13L):c.5796_5806del (p.Cys1932fs) rs1876629983
NM_015335.5(MED13L):c.5990dup (p.Leu1997fs) rs1876520009
NM_015335.5(MED13L):c.6226-1G>C rs1876150289
NM_015559.3(SETBP1):c.1408del (p.Lys469_Met470insTer) rs1555706391
NM_015559.3(SETBP1):c.1568del (p.His523fs) rs886041469
NM_015559.3(SETBP1):c.1821del (p.Ser608fs) rs797045952
NM_015559.3(SETBP1):c.1873C>T (p.Arg625Ter) rs606231272
NM_015559.3(SETBP1):c.1876C>T (p.Arg626Ter) rs606231273
NM_015559.3(SETBP1):c.2621A>G (p.Asp874Gly) rs2071364489
NM_015559.3(SETBP1):c.821G>A (p.Trp274Ter) rs1555705966
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_030632.3(ASXL3):c.1189C>T (p.Gln397Ter) rs1282045990
NM_030632.3(ASXL3):c.1192_1195del (p.Thr398fs) rs797045317
NM_030632.3(ASXL3):c.1207C>T (p.Gln403Ter) rs2067589435
NM_030632.3(ASXL3):c.1354del (p.Glu452fs) rs1555742087
NM_030632.3(ASXL3):c.1471C>T (p.Gln491Ter) rs1060499602
NM_030632.3(ASXL3):c.1479_1480del (p.Pro494fs) rs2067597244
NM_030632.3(ASXL3):c.1535T>A (p.Leu512Ter) rs1568359816
NM_030632.3(ASXL3):c.1738G>T (p.Glu580Ter) rs1555742333
NM_030632.3(ASXL3):c.1821del (p.Ala606_Cys607insTer) rs2067607599
NM_030632.3(ASXL3):c.1939dup (p.Thr647fs) rs886041753
NM_030632.3(ASXL3):c.1978_1981del (p.Asp660fs) rs1555742500
NM_030632.3(ASXL3):c.3106C>T (p.Arg1036Ter)
NM_030632.3(ASXL3):c.3315_3318del (p.Thr1106fs) rs2067694467
NM_030632.3(ASXL3):c.3349C>T (p.Arg1117Ter) rs868044680
NM_030632.3(ASXL3):c.3464C>A (p.Ser1155Ter) rs377619533
NM_030632.3(ASXL3):c.3621dup (p.Pro1208fs) rs2067703753
NM_030632.3(ASXL3):c.3964C>T (p.Gln1322Ter) rs1555743954
NM_030632.3(ASXL3):c.4087_4088delinsG (p.Met1363fs) rs1599572831
NM_030632.3(ASXL3):c.4164dup (p.Thr1389fs) rs2067717913
NM_030632.3(ASXL3):c.4211_4212del (p.Thr1404fs) rs1555744175
NM_030632.3(ASXL3):c.4219_4220del (p.Leu1407fs) rs1555744178
NM_030632.3(ASXL3):c.4322C>G (p.Ser1441Ter) rs2067723272
NM_030632.3(ASXL3):c.4399C>T (p.Arg1467Ter) rs1204482456
NM_030632.3(ASXL3):c.4462_4465del (p.Thr1488fs) rs1599574018
NM_030632.3(ASXL3):c.4509_4513dup (p.Val1505fs) rs1555744396
NM_030632.3(ASXL3):c.4904dup (p.Gln1636fs) rs2067741671
NM_032436.4(CHAMP1):c.1002G>A (p.Trp334Ter) rs879255261
NM_032436.4(CHAMP1):c.1489C>T (p.Arg497Ter) rs782397980
NM_032436.4(CHAMP1):c.1544G>A (p.Trp515Ter) rs863225075
NM_032436.4(CHAMP1):c.1657G>T (p.Glu553Ter) rs782465797
NM_032436.4(CHAMP1):c.1680_1683dup (p.Glu562delinsProTer) rs1594131663
NM_032436.4(CHAMP1):c.1850dup (p.Lys618fs) rs886041988
NM_032436.4(CHAMP1):c.1969C>T (p.Gln657Ter) rs863225074
NM_032436.4(CHAMP1):c.2127T>G (p.Tyr709Ter) rs1555379968
NM_032436.4(CHAMP1):c.542_543del (p.Ser181fs) rs863225077
NM_032436.4(CHAMP1):c.661dup (p.Thr221fs) rs1594129609
NM_032436.4(CHAMP1):c.730delinsGC (p.Ser244fs) rs1555379525
NM_177559.3(CSNK2A1):c.139C>G (p.Arg47Gly) rs886041956
NM_177559.3(CSNK2A1):c.140G>A (p.Arg47Gln) rs869312845
NM_177559.3(CSNK2A1):c.149A>C (p.Tyr50Ser) rs869312849
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840
NM_177559.3(CSNK2A1):c.934C>T (p.Arg312Trp) rs2018124491
NM_177559.3(CSNK2A1):c.96del (p.Glu32fs) rs1600392059

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