ClinVar Miner

List of variants reported as pathogenic for syndromic intellectual disability by Mendelics

Included ClinVar conditions (203):
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ClinVar version:
Total variants: 109
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.1079del (p.Asp360fs) rs767518464 0.00002
NM_004606.5(TAF1):c.428C>T (p.Pro143Leu) rs767354861 0.00001
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp) rs780598553 0.00001
NM_001003694.2(BRPF1):c.2027A>G (p.Lys676Arg) rs2125507908
NM_001003694.2(BRPF1):c.3152G>A (p.Gly1051Asp) rs2125514693
NM_001003694.2(BRPF1):c.964C>T (p.Gln322Ter) rs2125500524
NM_001008537.3(NEXMIF):c.2869C>T (p.Gln957Ter) rs2147439880
NM_001008537.3(NEXMIF):c.3689del (p.Ala1230fs) rs1602210960
NM_001079872.2(CUL4B):c.1386del (p.Phe462fs) rs1602577238
NM_001110792.2(MECP2):c.1173dup (p.Val392fs) rs1557135793
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.3G>A (p.Met1Ile) rs2148770984
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.618dup (p.Gly207fs) rs2148663602
NM_001110792.2(MECP2):c.642del (p.Thr215fs) rs2148663473
NM_001110792.2(MECP2):c.940C>G (p.Pro314Ala) rs61751373
NM_001110792.2(MECP2):c.946AAG[1] (p.Lys317del) rs2148661952
NM_001172509.2(SATB2):c.1196G>A (p.Arg399His) rs1057518190
NM_001172509.2(SATB2):c.474-2A>G rs1574566973
NM_001184880.2(PCDH19):c.1031C>G (p.Pro344Arg) rs796052811
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs) rs758946412
NM_001184880.2(PCDH19):c.1118dup (p.Ser374fs) rs2147539591
NM_001184880.2(PCDH19):c.1172del (p.Asn391fs) rs1602636591
NM_001184880.2(PCDH19):c.134_135del (p.Asp45fs) rs1602638456
NM_001184880.2(PCDH19):c.1535C>A (p.Ser512Ter) rs779665170
NM_001184880.2(PCDH19):c.1623del (p.Ser542fs) rs1602635781
NM_001184880.2(PCDH19):c.2341dup (p.Ile781fs) rs1060502175
NM_001184880.2(PCDH19):c.2624del (p.Asn875fs) rs34651888
NM_001184880.2(PCDH19):c.2697dup (p.Glu900fs) rs1602595101
NM_001184880.2(PCDH19):c.493A>C (p.Thr165Pro) rs2147541749
NM_001184880.2(PCDH19):c.498C>A (p.Tyr166Ter) rs796052837
NM_001184880.2(PCDH19):c.729C>A (p.Tyr243Ter) rs1166554052
NM_001184880.2(PCDH19):c.937G>T (p.Glu313Ter) rs1602636952
NM_001282531.3(ADNP):c.-5-1G>C rs1064796656
NM_001282531.3(ADNP):c.190dup (p.Thr64fs) rs886041741
NM_001282531.3(ADNP):c.2157_2159del (p.Tyr719_Glu720delinsTer) rs1600930118
NM_001282531.3(ADNP):c.2424_2427del (p.Lys809fs) rs2122743279
NM_001282531.3(ADNP):c.539_542del (p.Val180fs) rs1057518345
NM_001347721.2(DYRK1A):c.1015G>A (p.Gly339Arg) rs2053152079
NM_001347721.2(DYRK1A):c.638-1G>A rs2148612254
NM_001349338.3(FOXP1):c.1287_1291dup (p.Thr431fs) rs1575806352
NM_001349338.3(FOXP1):c.2018del (p.Asn673fs) rs2106854788
NM_001349338.3(FOXP1):c.870-1G>C rs1576175491
NM_001349338.3(FOXP1):c.975-2A>G rs1553685707
NM_001353921.2(ARHGEF9):c.178G>T (p.Glu60Ter) rs1602577529
NM_001356.5(DDX3X):c.1264_1267del (p.Val422fs) rs2147356723
NM_001356.5(DDX3X):c.136C>T (p.Arg46Ter) rs1569234653
NM_001356.5(DDX3X):c.173C>G (p.Ser58Ter) rs1602126980
NM_001356.5(DDX3X):c.269dup (p.Ser90fs) rs1602127262
NM_001356.5(DDX3X):c.744C>T (p.Gly248=) rs1569238002
NM_001356.5(DDX3X):c.99_102dup (p.Lys35fs) rs1602119305
NM_001367721.1(CASK):c.1385_1394del (p.Pro462fs) rs1602292205
NM_001367721.1(CASK):c.1976G>A (p.Gly659Asp) rs727505397
NM_001367721.1(CASK):c.2429G>A (p.Ser810Asn) rs1602220170
NM_001367721.1(CASK):c.774_780del (p.Met258fs) rs1602424869
NM_001367721.1(CASK):c.82C>T (p.Arg28Ter) rs587783370
NM_001371928.1(AHDC1):c.2191_2194del (p.Val731fs) rs1571236369
NM_001371928.1(AHDC1):c.2719del (p.Ala907fs) rs2148275240
NM_001429.4(EP300):c.3707dup (p.Asn1236fs) rs1601628237
NM_002547.3(OPHN1):c.1138+1G>A rs1602226670
NM_002547.3(OPHN1):c.597+2T>C rs2147484573
NM_003070.5(SMARCA2):c.2258T>A (p.Leu753His) rs2130464312
NM_003491.4(NAA10):c.445C>T (p.Arg149Trp) rs2065162324
NM_004187.5(KDM5C):c.80C>T (p.Pro27Leu) rs2146978491
NM_004187.5(KDM5C):c.994C>T (p.Arg332Ter) rs2146934865
NM_004187.5(KDM5C):c.997G>C (p.Gly333Arg) rs2146934832
NM_004380.3(CREBBP):c.1694del (p.Gly565fs) rs1596916327
NM_004380.3(CREBBP):c.5169C>G (p.Cys1723Trp) rs146718571
NM_004380.3(CREBBP):c.5555_5575del (p.Gln1852_Arg1858del) rs2151309803
NM_004586.3(RPS6KA3):c.243+1G>A rs1603428228
NM_004606.5(TAF1):c.1207T>G (p.Phe403Val) rs2033670961
NM_006245.4(PPP2R5D):c.434A>T (p.Lys145Met) rs2150278470
NM_006245.4(PPP2R5D):c.620G>C (p.Trp207Ser) rs2150278804
NM_006517.5(SLC16A2):c.1262G>T (p.Gly421Val) rs1602143383
NM_006517.5(SLC16A2):c.1373del (p.Pro458fs) rs1602143432
NM_006517.5(SLC16A2):c.1468G>A (p.Gly490Arg) rs794727799
NM_006517.5(SLC16A2):c.407del (p.Asn136fs) rs1602099961
NM_006565.4(CTCF):c.1699C>T (p.Arg567Trp) rs879255516
NM_006565.4(CTCF):c.1990C>T (p.Gln664Ter) rs200677445
NM_006908.5(RAC1):c.218C>T (p.Pro73Leu) rs2115201441
NM_007118.4(TRIO):c.3233G>A (p.Arg1078Gln) rs1745369142
NM_007325.5(GRIA3):c.1450_1453dup (p.Pro485fs) rs2147384890
NM_014795.4(ZEB2):c.1848del (p.His617fs) rs2149877032
NM_014795.4(ZEB2):c.194_195del (p.Val65fs) rs1573743951
NM_014795.4(ZEB2):c.2095C>T (p.Gln699Ter) rs1573716158
NM_014795.4(ZEB2):c.289del (p.Trp97fs) rs727503784
NM_014795.4(ZEB2):c.2996_3003del (p.Met998_Tyr999insTer) rs1573713477
NM_014795.4(ZEB2):c.3134del (p.His1045fs) rs2149872686
NM_014795.4(ZEB2):c.3208_3209insGA (p.Tyr1070Ter) rs2149872634
NM_015100.4(POGZ):c.125-1G>T rs1571533545
NM_015100.4(POGZ):c.460-1G>A rs1571464589
NM_015335.5(MED13L):c.4041G>A (p.Trp1347Ter) rs2137290161
NM_015338.6(ASXL1):c.1426_1427dup (p.Glu477fs) rs1600583334
NM_015338.6(ASXL1):c.2535dup (p.Ser846fs) rs750170870
NM_015570.4(AUTS2):c.1882_1883del (p.Leu628fs) rs1585667374
NM_018026.4(PACS1):c.1574G>A (p.Arg525Lys) rs2134735819
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_020699.4(GATAD2B):c.1241G>A (p.Arg414Gln) rs1057521041
NM_020699.4(GATAD2B):c.574C>T (p.Gln192Ter) rs1570929904
NM_020987.5(ANK3):c.2659C>T (p.Gln887Ter) rs1590691724
NM_024528.4(NKAP):c.961A>G (p.Met321Val) rs2147845271
NM_024665.7(TBL1XR1):c.1340G>A (p.Ser447Asn) rs2108407962
NM_030665.4(RAI1):c.4814del (p.Asp1605fs) rs1598093659
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln) rs1557036768
NM_152564.5(VPS13B):c.11429_11432dup (p.Arg3812fs) rs1588810695
NM_152564.5(VPS13B):c.2047del (p.Gln683fs) rs386834074
NM_198880.3(QRICH1):c.1147_1150del (p.Leu383fs) rs1376687924
NM_198880.3(QRICH1):c.64dup (p.Val22fs) rs1575373920

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