ClinVar Miner

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

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020717.5(SHROOM4):c.436C>T (p.Arg146Trp) rs189694750 0.00022
NM_002139.4(RBMX):c.389-8T>C rs181515589 0.00011
NM_002547.3(OPHN1):c.2168A>G (p.Asp723Gly) rs374431961 0.00011
NM_020717.5(SHROOM4):c.3071T>C (p.Leu1024Pro) rs1557249087 0.00005
NM_007325.5(GRIA3):c.813G>C (p.Gln271His) rs756316953 0.00004
NM_005120.3(MED12):c.6267+166G>A rs1247198443 0.00002
NM_020717.5(SHROOM4):c.3955G>A (p.Glu1319Lys) rs782659789 0.00002
NM_001110556.2(FLNA):c.546G>C (p.Gln182His) rs1557179648 0.00001
NM_001184.4(ATR):c.3152G>A (p.Arg1051His) rs770645649 0.00001
NM_002547.3(OPHN1):c.215T>C (p.Ile72Thr) rs763066236 0.00001
NM_005120.3(MED12):c.3210-27C>T rs752463122 0.00001
NM_015107.3(PHF8):c.2258G>A (p.Arg753Gln) rs1263803925 0.00001
NM_000489.6(ATRX):c.5968TCT[2] (p.Ser1992del) rs782391479
NM_001039591.3(USP9X):c.3304G>A (p.Ala1102Thr) rs1555927212
NM_001356.5(DDX3X):c.58G>T (p.Asp20Tyr) rs1569233520
NM_004187.5(KDM5C):c.*129C>T rs1602156447
NM_004595.5(SMS):c.13C>G (p.Arg5Gly) rs1921698887
NM_005120.3(MED12):c.6177_6191del (p.Gln2072_Gln2076del) rs767827315
NM_005120.3(MED12):c.6241CAG[7] (p.Gln2086dup) rs786200971
NM_005634.3(SOX3):c.735_737dup (p.Ala248dup) rs398124211
NM_006517.5(SLC16A2):c.25G>A (p.Glu9Lys) rs933036653
NM_006517.5(SLC16A2):c.667T>G (p.Tyr223Asp) rs1930457917
NM_020717.5(SHROOM4):c.2672G>T (p.Ser891Ile) rs1569546782
NM_031407.7(HUWE1):c.4639G>A (p.Val1547Met) rs1569473370

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.