List of variants in gene HNRNPU, LOC129932913 studied for Developmental and epileptic encephalopathy, 54

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_031844.3(HNRNPU):c.691+8C>T	rs751316536	0.00013
NM_031844.3(HNRNPU):c.691+18C>T	rs765471448	0.00005
NM_031844.3(HNRNPU):c.691+14T>G	rs1249652847	0.00004
NM_031844.3(HNRNPU):c.691+10G>A	rs1023031250	0.00001
NM_031844.3(HNRNPU):c.143_691+113del	rs2527893248
NM_031844.3(HNRNPU):c.669_691+32del	rs1558190256
NM_031844.3(HNRNPU):c.691+11C>T	rs1558190278
NM_031844.3(HNRNPU):c.691+16T>C
NM_031844.3(HNRNPU):c.691+16T>G	rs2527893820

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.