ClinVar Miner

List of variants reported as likely pathogenic for X-linked syndromic intellectual disability by Genomic Research Center,Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_000052.7(ATP7A):c.3140G>A (p.Gly1047Glu) rs1557237050
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln) rs786204123
NM_000531.6(OTC):c.674C>T (p.Pro225Leu) rs67120076
NM_001123383.1(BCOR):c.2035G>A (p.Val679Ile) rs144722432
NM_001123383.1(BCOR):c.3437_3445del (p.Glu1146_Thr1148del) rs1555915744
NM_001356.4(DDX3X):c.1052G>A (p.Arg351Gln) rs1057518707
NM_002139.4(RBMX):c.389-8T>C rs181515589
NM_004551.3(NDUFS3):c.596G>A (p.Arg199Gln) rs771783839
NM_004586.3(RPS6KA3):c.2185C>T (p.Arg729Trp) rs1555924331
NM_004992.3(MECP2):c.1163_1197del (p.Pro388fs) rs267608589
NM_004992.3(MECP2):c.378-3C>T rs267608465
NM_005333.5(HCCS):c.199C>A (p.Pro67Thr) rs1413276234
NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile) rs149051060
NM_017547.4(FOXRED1):c.632G>C (p.Gly211Ala) rs536400690

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