ClinVar Miner

List of variants reported as uncertain significance for syndromic intellectual disability by Genetics and Molecular Pathology, SA Pathology

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001330360.2(POLA1):c.463-9C>T rs778776585 0.00001
NM_007325.5(GRIA3):c.424C>T (p.Arg142Cys) rs775540855 0.00001
NM_031407.7(HUWE1):c.8944C>T (p.Arg2982Trp) rs373845421 0.00001
NM_000489.6(ATRX):c.2011A>T (p.Asn671Tyr)
NM_001081550.2(THOC2):c.1010T>C (p.Val337Ala)
NM_001190274.2(FBXO11):c.1352T>C (p.Ile451Thr)
NM_001371928.1(AHDC1):c.3289G>A (p.Glu1097Lys)
NM_001376.5(DYNC1H1):c.5557G>A (p.Val1853Met)
NM_001376.5(DYNC1H1):c.7846G>A (p.Glu2616Lys) rs1555410285
NM_001429.4(EP300):c.3098C>T (p.Ser1033Leu)
NM_003070.5(SMARCA2):c.1676GGA[2] (p.Arg561_Arg562del) rs754525705
NM_004187.5(KDM5C):c.2624G>A (p.Gly875Asp) rs2146840102
NM_004380.3(CREBBP):c.1776G>C (p.Trp592Cys)
NM_004606.5(TAF1):c.1291C>T (p.Arg431Cys)
NM_005120.3(MED12):c.6045G>A (p.Arg2015=)
NM_007118.4(TRIO):c.6181T>G (p.Tyr2061Asp)
NM_007325.5(GRIA3):c.949A>G (p.Ile317Val) rs2147381088
NM_013275.6(ANKRD11):c.7753C>T (p.Arg2585Cys) rs1567537304
NM_015335.5(MED13L):c.4789A>G (p.Ser1597Gly) rs2137274550
NM_020717.5(SHROOM4):c.384G>T (p.Trp128Cys)
NM_031407.7(HUWE1):c.1445C>T (p.Pro482Leu) rs2066586691

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.