ClinVar Miner

List of variants reported as pathogenic for syndromic intellectual disability by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 72
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003620.4(PPM1D):c.1654C>T (p.Arg552Ter) rs779070661 0.00004
NM_001127178.3(PIGG):c.910C>T (p.Arg304Ter) rs752545577 0.00001
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
GRCh37/hg19 8q22.2(chr8:100123326-100182391)
NM_001008537.3(NEXMIF):c.2683del (p.Ser895fs) rs2080105696
NM_001015877.2(PHF6):c.29_30dup (p.Pro11fs) rs1556013203
NM_001032382.2(PQBP1):c.599_600del (p.Glu200fs) rs1602332039
NM_001039591.3(USP9X):c.4756del (p.Ala1587fs) rs1555930128
NM_001079872.2(CUL4B):c.2264_2265dup (p.Glu756Ter)
NM_001172509.2(SATB2):c.1103_1106del (p.Val368fs) rs1574532220
NM_001172509.2(SATB2):c.225T>A (p.Tyr75Ter) rs1357010510
NM_001172509.2(SATB2):c.553_554insT (p.Glu185fs) rs1574566833
NM_001190274.2(FBXO11):c.2729A>G (p.Asp910Gly) rs1670355281
NM_001190274.2(FBXO11):c.802-1G>A rs1672424005
NM_001347721.2(DYRK1A):c.1336del (p.Leu446fs)
NM_001347721.2(DYRK1A):c.1378C>T (p.Gln460Ter) rs1555990955
NM_001347721.2(DYRK1A):c.1635_1636del (p.His545fs) rs1601319352
NM_001349338.3(FOXP1):c.1426_1428+1del rs1575803923
NM_001353921.2(ARHGEF9):c.402+1G>C
NM_001353921.2(ARHGEF9):c.813_814del (p.His271fs)
NM_001356.5(DDX3X):c.1148C>G (p.Ala383Gly) rs1602134248
NM_001356.5(DDX3X):c.1316-2A>G rs1602135698
NM_001356.5(DDX3X):c.780T>G (p.Tyr260Ter) rs2063889019
NM_001356.5(DDX3X):c.841C>T (p.Gln281Ter) rs2147353543
NM_001356.5(DDX3X):c.977G>A (p.Arg326His) rs797045025
NM_001371928.1(AHDC1):c.1519A>T (p.Lys507Ter) rs1553159383
NM_001371928.1(AHDC1):c.3182del (p.Ser1061fs)
NM_001371928.1(AHDC1):c.3623G>A (p.Trp1208Ter) rs1571229515
NM_001904.4(CTNNB1):c.1543C>T (p.Arg515Ter) rs397514554
NM_001904.4(CTNNB1):c.1900G>T (p.Glu634Ter) rs1575334103
NM_001904.4(CTNNB1):c.468dup (p.Thr157fs) rs1575316657
NM_001904.4(CTNNB1):c.999C>G (p.Tyr333Ter) rs778624338
NM_003070.5(SMARCA2):c.2648C>T (p.Pro883Leu) rs281875188
NM_004187.5(KDM5C):c.2214C>A (p.Cys738Ter)
NM_004586.3(RPS6KA3):c.1894C>T (p.Arg632Ter) rs1085307639
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006245.4(PPP2R5D):c.751G>T (p.Asp251Tyr) rs1762178916
NM_006245.4(PPP2R5D):c.752A>C (p.Asp251Ala) rs1064794719
NM_006521.6(TFE3):c.560C>T (p.Thr187Met) rs2064742925
NM_006766.5(KAT6A):c.3306del (p.Lys1103fs) rs1587713892
NM_006766.5(KAT6A):c.3318_3319insCT (p.Glu1107fs) rs1587713866
NM_006766.5(KAT6A):c.4228_4232del (p.Lys1410fs) rs1554679889
NM_006766.5(KAT6A):c.5505_5506del (p.Asn1836fs)
NM_007363.5(NONO):c.107del (p.Pro36fs) rs1602385860
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs) rs886039734
NM_013275.6(ANKRD11):c.2273_2274del (p.Leu758fs) rs1597461334
NM_013275.6(ANKRD11):c.2704G>T (p.Glu902Ter) rs1597459649
NM_013275.6(ANKRD11):c.2716C>T (p.Arg906Ter) rs929007085
NM_013275.6(ANKRD11):c.2826_2829del (p.Arg942fs) rs1597459077
NM_013275.6(ANKRD11):c.4206C>G (p.Tyr1402Ter) rs749632782
NM_013275.6(ANKRD11):c.6807_6808del (p.Ala2270fs) rs1597435393
NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter) rs587784566
NM_014795.4(ZEB2):c.425_429del (p.Ser142fs) rs1573722407
NM_014795.4(ZEB2):c.770_771del (p.Glu257fs) rs1573721065
NM_015100.4(POGZ):c.2819_2826del (p.Leu940fs)
NM_015100.4(POGZ):c.2989C>T (p.Arg997Ter) rs1553212545
NM_015335.5(MED13L):c.747_748del (p.Lys250fs) rs1592953902
NM_015338.6(ASXL1):c.2036dup (p.Gly680fs) rs1600586587
NM_015338.6(ASXL1):c.217A>T (p.Lys73Ter) rs1555901138
NM_015338.6(ASXL1):c.3942_3957del (p.Gln1315fs)
NM_015570.4(AUTS2):c.1547dup (p.Pro517fs) rs1585653028
NM_015570.4(AUTS2):c.946C>T (p.Arg316Ter) rs1554480537
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_030665.4(RAI1):c.1069_1070insC (p.Ser357fs) rs1598088235
NM_031407.7(HUWE1):c.12037C>T (p.Arg4013Trp) rs121918525
NM_080632.3(UPF3B):c.1351del (p.Arg451fs) rs1556377028
NM_080632.3(UPF3B):c.575_578del (p.Glu191_Leu192insTer) rs1603371016
NM_138576.4(BCL11B):c.1500dup (p.Gly501fs) rs1595215462
NM_138576.4(BCL11B):c.2048del (p.Ser683fs) rs1595214071
NM_138576.4(BCL11B):c.2421C>G (p.Asn807Lys) rs888230251

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.