ClinVar Miner

List of variants reported as likely pathogenic for syndromic intellectual disability by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu) rs137853312 0.00001
NM_006245.4(PPP2R5D):c.758G>A (p.Arg253Gln) rs1131691266 0.00001
NM_000489.6(ATRX):c.559T>G (p.Tyr187Asp)
NM_001008537.3(NEXMIF):c.2755del (p.Ser919fs)
NM_001110792.2(MECP2):c.1244dup (p.Pro415_Glu416insTer) rs781843758
NM_001282531.3(ADNP):c.2132del (p.Ser711fs)
NM_001282531.3(ADNP):c.2666del (p.Ser889fs)
NM_001282531.3(ADNP):c.2712dup (p.Asn905Ter) rs2122740067
NM_001347721.2(DYRK1A):c.1520-1G>C
NM_001347721.2(DYRK1A):c.764A>C (p.Lys255Thr)
NM_001349338.3(FOXP1):c.1595C>T (p.Ala532Val)
NM_001349338.3(FOXP1):c.1601G>A (p.Trp534Ter)
NM_001353921.2(ARHGEF9):c.509_510del (p.Val170fs)
NM_001356.5(DDX3X):c.152-2A>T
NM_001356.5(DDX3X):c.1675CTT[1] (p.Leu560del) rs1555954380
NM_001367721.1(CASK):c.764G>A (p.Arg255His) rs587783369
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_004187.5(KDM5C):c.1592C>T (p.Pro531Leu)
NM_004187.5(KDM5C):c.974_975del (p.Tyr325fs)
NM_004380.3(CREBBP):c.3836+5G>A
NM_004380.3(CREBBP):c.5821C>T (p.Gln1941Ter) rs587783505
NM_004586.3(RPS6KA3):c.775-1del
NM_005359.6(SMAD4):c.1541del (p.Pro514fs)
NM_005654.6(NR2F1):c.314G>C (p.Gly105Ala)
NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg) rs587784383
NM_006565.4(CTCF):c.1133C>T (p.Pro378Leu) rs2142847512
NM_006565.4(CTCF):c.1699C>T (p.Arg567Trp) rs879255516
NM_006766.5(KAT6A):c.4645G>A (p.Gly1549Ser) rs1064794000
NM_007118.4(TRIO):c.1993C>T (p.Gln665Ter)
NM_007118.4(TRIO):c.3766-2A>C
NM_007118.4(TRIO):c.4394A>G (p.Asn1465Ser) rs1747669042
NM_007118.4(TRIO):c.7566_7573dup (p.Arg2525fs)
NM_013275.6(ANKRD11):c.2405_2406del (p.Leu802fs)
NM_014927.5(CNKSR2):c.1312C>T (p.Arg438Ter)
NM_014927.5(CNKSR2):c.1394-13_1423del
NM_015100.4(POGZ):c.2914C>T (p.Gln972Ter) rs1557866540
NM_015107.3(PHF8):c.1516C>T (p.Arg506Ter)
NM_015338.6(ASXL1):c.1621dup (p.Arg541fs)
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1]) rs1789934246
NM_020699.4(GATAD2B):c.1200dup (p.Val401fs)
NM_024528.4(NKAP):c.998G>A (p.Arg333Gln) rs1603379779
NM_024665.7(TBL1XR1):c.853G>A (p.Gly285Arg)
NM_030665.4(RAI1):c.1930del (p.Glu644fs)
NM_030665.4(RAI1):c.2521_2524del (p.Ser841fs)
NM_138576.4(BCL11B):c.1707del (p.Gly570fs)
NM_152564.5(VPS13B):c.8098-1G>C rs1554565484

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