ClinVar Miner

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

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 52
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000489.6(ATRX):c.5405A>C (p.Lys1802Thr) rs1602876401
NM_000489.6(ATRX):c.6104A>G (p.Asp2035Gly) rs122445096
NM_000489.6(ATRX):c.729C>G (p.Cys243Trp) rs1057524153
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter) rs786205208
NM_001145358.2(SIN3A):c.2006T>A (p.Leu669His) rs1595897117
NM_001172509.2(SATB2):c.925C>T (p.Gln309Ter) rs1574532452
NM_001184880.2(PCDH19):c.1442A>G (p.Asp481Gly) rs1602636096
NM_001184880.2(PCDH19):c.1787A>G (p.Asp596Gly) rs2147537831
NM_001184880.2(PCDH19):c.1925T>G (p.Val642Gly) rs1602635282
NM_001184880.2(PCDH19):c.1938C>A (p.Asp646Glu) rs1602635261
NM_001184880.2(PCDH19):c.260_292del (p.Ile87_Pro97del) rs1602638228
NM_001184880.2(PCDH19):c.959A>T (p.Asp320Val) rs1602636925
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) rs1135401808
NM_001349338.3(FOXP1):c.1240_1241del (p.Leu414fs) rs1064793130
NM_001349338.3(FOXP1):c.1550T>G (p.Leu517Arg) rs1575757812
NM_001349338.3(FOXP1):c.1568T>C (p.Phe523Ser) rs1559602593
NM_001367721.1(CASK):c.1465C>T (p.Arg489Trp) rs1114167352
NM_001367721.1(CASK):c.1609C>T (p.Arg537Ter) rs1555981717
NM_001367721.1(CASK):c.787G>A (p.Glu263Lys) rs1602424843
NM_001376.5(DYNC1H1):c.3961-2A>G rs1595608413
NM_001376.5(DYNC1H1):c.944G>A (p.Ser315Asn) rs1595597963
NM_001376.5(DYNC1H1):c.9790C>A (p.Leu3264Met) rs373682811
NM_001429.4(EP300):c.3573T>A (p.Tyr1191Ter) rs565779970
NM_001429.4(EP300):c.3749G>A (p.Cys1250Tyr) rs1601629319
NM_001429.4(EP300):c.4692dup (p.Arg1565Ter) rs1601636935
NM_003070.5(SMARCA2):c.3587A>C (p.Gln1196Pro) rs1586721515
NM_003336.4(UBE2A):c.31_42del (p.Asp12_Arg15del) rs1603308066
NM_003491.4(NAA10):c.116C>T (p.Pro39Leu) rs1557107942
NM_003491.4(NAA10):c.377T>G (p.Leu126Arg) rs1603290291
NM_004187.5(KDM5C):c.807del (p.Thr270fs) rs1569278313
NM_004380.3(CREBBP):c.3982+3A>T rs1596823180
NM_004586.3(RPS6KA3):c.748G>A (p.Asp250Asn) rs1603425338
NM_005120.3(MED12):c.1248+3A>G rs2147782173
NM_005120.3(MED12):c.224G>C (p.Ser75Thr) rs867655376
NM_005654.6(NR2F1):c.1181T>G (p.Val394Gly) rs2149946121
NM_006245.4(PPP2R5D):c.751G>A (p.Asp251Asn) rs1762178916
NM_006517.5(SLC16A2):c.1388C>T (p.Pro463Leu) rs2147871919
NM_006517.5(SLC16A2):c.407dup (p.Asn136fs) rs1602099961
NM_006908.5(RAC1):c.212C>T (p.Ser71Phe) rs2115201430
NM_007118.4(TRIO):c.3570+3G>A rs2152354197
NM_007325.5(GRIA3):c.1957G>A (p.Ala653Thr) rs1057521721
NM_013275.6(ANKRD11):c.7765T>C (p.Ser2589Pro) rs2151675756
NM_013275.6(ANKRD11):c.7822C>T (p.Arg2608Trp) rs1597389370
NM_014795.4(ZEB2):c.3122A>G (p.His1041Arg) rs1573708153
NM_015100.4(POGZ):c.2569A>G (p.Arg857Gly) rs2102152736
NM_015100.4(POGZ):c.3424C>T (p.Arg1142Ter) rs773311942
NM_020699.4(GATAD2B):c.387del (p.Asp130fs) rs756062872
NM_024665.7(TBL1XR1):c.1100G>T (p.Cys367Phe) rs1576993654
NM_024665.7(TBL1XR1):c.1184A>G (p.Tyr395Cys) rs1576982808
NM_024665.7(TBL1XR1):c.226C>T (p.Arg76Ter) rs1577029680
NM_024665.7(TBL1XR1):c.703-2A>G rs1577018466
NM_030665.4(RAI1):c.5709+5G>C rs2143006568

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.