ClinVar Miner

List of variants reported as likely pathogenic for X-linked syndromic intellectual disability by Baylor Genetics

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000489.6(ATRX):c.5449-7A>G rs2067371776
NM_000489.6(ATRX):c.569C>T (p.Pro190Leu) rs1057518708
NM_000489.6(ATRX):c.758T>C (p.Leu253Ser)
NM_001008537.3(NEXMIF):c.3437C>A (p.Ser1146Tyr) rs2080101583
NM_001032382.2(PQBP1):c.32T>C (p.Leu11Ser) rs2063344708
NM_001039591.3(USP9X):c.1315-4A>G rs1057522024
NM_001110792.2(MECP2):c.1174_1178del (p.Val392fs)
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu) rs369638371
NM_001353921.2(ARHGEF9):c.402+1G>A rs2052538764
NM_001356.5(DDX3X):c.1180_1185dup (p.Arg394_Asp395dup) rs1602134468
NM_001356.5(DDX3X):c.1537G>C (p.Val513Leu) rs2063927856
NM_001356.5(DDX3X):c.1595C>T (p.Thr532Met) rs1064795387
NM_001356.5(DDX3X):c.1675CTT[1] (p.Leu560del) rs1555954380
NM_001356.5(DDX3X):c.544T>G (p.Phe182Val) rs2063875155
NM_001367721.1(CASK):c.1690_1691del (p.Thr564fs)
NM_002547.3(OPHN1):c.598-1G>C
NM_003491.4(NAA10):c.215T>C (p.Ile72Thr) rs1057519448
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu) rs1057518697
NM_004595.5(SMS):c.700C>T (p.Arg234Ter)
NM_004606.5(TAF1):c.2120G>A (p.Arg707Gln) rs1602490113
NM_005120.3(MED12):c.6211del (p.Gln2071fs)
NM_031407.7(HUWE1):c.3239G>A (p.Arg1080His) rs1057518704

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