ClinVar Miner

List of variants in gene DDX3X reported as pathogenic for X-linked syndromic intellectual disability

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_001356.4(DDX3X):c.1052G>A (p.Arg351Gln) rs1057518707
NM_001356.4(DDX3X):c.1084C>T (p.Arg362Cys) rs797045026
NM_001356.4(DDX3X):c.1099dup (p.Gln367fs) rs1555953819
NM_001356.4(DDX3X):c.1126C>T (p.Arg376Cys) rs796052231
NM_001356.4(DDX3X):c.1171-1G>C
NM_001356.4(DDX3X):c.1429C>G (p.Gln477Glu) rs1555954105
NM_001356.4(DDX3X):c.1439G>C (p.Arg480Thr) rs1569240005
NM_001356.4(DDX3X):c.1520T>C (p.Ile507Thr) rs797045024
NM_001356.4(DDX3X):c.1703C>T (p.Pro568Leu) rs1057519430
NM_001356.4(DDX3X):c.1807C>T (p.Arg603Ter) rs886041705
NM_001356.4(DDX3X):c.192dup (p.Asp65fs) rs1057519431
NM_001356.4(DDX3X):c.255del (p.Phe85fs) rs1131691299
NM_001356.4(DDX3X):c.362G>T (p.Arg121Leu) rs1057519446
NM_001356.4(DDX3X):c.619C>T (p.Gln207Ter) rs869312692
NM_001356.4(DDX3X):c.745G>T (p.Glu249Ter) rs752738546
NM_001356.4(DDX3X):c.770dup (p.Asn257fs) rs1555953398
NM_001356.4(DDX3X):c.873C>A (p.Tyr291Ter) rs869320681
NM_001356.4(DDX3X):c.977G>A (p.Arg326His) rs797045025

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