ClinVar Miner

List of variants reported as pathogenic for syndromic intellectual disability by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_015338.6(ASXL1):c.1210C>T (p.Arg404Ter) rs373145711 0.00003
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) rs179363900 0.00002
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser) rs398123425
NM_001008537.3(NEXMIF):c.2999_3000del (p.Ser1000fs) rs875989829
NM_001015877.2(PHF6):c.1024C>T (p.Arg342Ter) rs132630297
NM_001172509.2(SATB2):c.1131_1132del (p.Ser378fs) rs875989830
NM_001172509.2(SATB2):c.1495A>T (p.Lys499Ter) rs878853163
NM_001172509.2(SATB2):c.1964C>T (p.Pro655Leu) rs1553538919
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001282531.3(ADNP):c.2318dup (p.Tyr774fs) rs1057518978
NM_001282531.3(ADNP):c.517C>T (p.Arg173Ter) rs1135401791
NM_001347721.2(DYRK1A):c.1612C>T (p.Gln538Ter) rs869312708
NM_001347721.2(DYRK1A):c.449dup (p.Tyr150Ter) rs1057516030
NM_001356.5(DDX3X):c.619C>T (p.Gln207Ter) rs869312692
NM_001356.5(DDX3X):c.745G>T (p.Glu249Ter) rs752738546
NM_001367721.1(CASK):c.1997dup (p.Asn666fs) rs1602253464
NM_001371928.1(AHDC1):c.2229del (p.Ser744fs) rs886039900
NM_001376.5(DYNC1H1):c.10573C>T (p.Arg3525Cys) rs869312693
NM_001429.4(EP300):c.4763T>C (p.Met1588Thr) rs1057521737
NM_003070.5(SMARCA2):c.3485G>A (p.Arg1162His) rs281875186
NM_004187.5(KDM5C):c.3597_3601del (p.Leu1200fs) rs1131692227
NM_004380.3(CREBBP):c.3779+1G>A rs587783483
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_007118.4(TRIO):c.634G>T (p.Glu212Ter) rs1057516029
NM_007363.5(NONO):c.1131G>A (p.Ala377=) rs869025343
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.4055_4058del (p.His1352fs) rs2151751963
NM_013275.6(ANKRD11):c.6472G>T (p.Glu2158Ter) rs869312713
NM_013275.6(ANKRD11):c.6792del (p.Ala2265fs) rs878855327
NM_013275.6(ANKRD11):c.7062dup (p.Ser2355fs) rs886041942
NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter) rs137852981
NM_014795.4(ZEB2):c.2672_2678del (p.Ala891fs) rs878855329
NM_015100.4(POGZ):c.2700_2710del (p.Leu901fs) rs2102150015
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs) rs869320764
NM_015335.5(MED13L):c.124dup (p.Asp42fs) rs869312875
NM_015335.5(MED13L):c.2107C>T (p.Gln703Ter) rs1555247672
NM_015335.5(MED13L):c.6485C>T (p.Thr2162Met) rs869312707
NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser) rs267607040
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_024665.7(TBL1XR1):c.1337A>G (p.Tyr446Cys) rs878854402

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