ClinVar Miner

List of variants in gene combination SNHG14, SNRPN, SNURF reported as uncertain significance for autism spectrum disorder

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003097.6(SNRPN):c.-378C>T rs426541 0.01033
NM_003097.6(SNRPN):c.3+10A>G rs112560608 0.00515
NM_003097.6(SNRPN):c.183T>C (p.Arg61=) rs373215950 0.00031
NM_003097.6(SNRPN):c.-274G>A rs142583293 0.00014
NM_003097.6(SNRPN):c.-86G>A rs886051018 0.00011
NM_003097.6(SNRPN):c.-280C>T rs372295822 0.00009
NM_003097.6(SNRPN):c.-20G>T rs763736287 0.00005
NM_003097.6(SNRPN):c.-295+8C>G rs371808119 0.00004
NM_003097.6(SNRPN):c.-110T>G rs190439178 0.00001
NM_003097.6(SNRPN):c.-386C>T rs776280755 0.00001
NM_003097.6(SNRPN):c.524C>T (p.Pro175Leu) rs886051020 0.00001
NM_003097.6(SNRPN):c.-143-6C>T rs886051017
NM_003097.6(SNRPN):c.-262A>T rs765651266
NM_003097.6(SNRPN):c.-380C>T rs886051016
NM_003097.6(SNRPN):c.421-5C>T rs886051019

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.