List of variants studied for Norman-Roberts syndrome by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005045.4(RELN):c.5923G>A (p.Gly1975Ser)	rs114807343	0.00300
NM_005045.4(RELN):c.8843+3A>C	rs200124755	0.00029
NM_005045.4(RELN):c.6874C>T (p.Arg2292Cys)	rs762032224	0.00006
NM_005045.4(RELN):c.7282C>T (p.Arg2428Trp)	rs751431158	0.00002
NM_005045.4(RELN):c.673T>G (p.Cys225Gly)	rs371731772	0.00001
NM_005045.4(RELN):c.1901G>A (p.Arg634Gln)	rs779205093
NM_005045.4(RELN):c.217G>C (p.Glu73Gln)
NM_005045.4(RELN):c.3136_3140del (p.Gly1046fs)
NM_005045.4(RELN):c.3485dup (p.Ile1163fs)	rs1831540545
NM_005045.4(RELN):c.3711+2T>C
NM_005045.4(RELN):c.541G>C (p.Gly181Arg)	rs1342417375
NM_005045.4(RELN):c.8654C>T (p.Thr2885Ile)
NM_005045.4(RELN):c.9841del (p.Ala3281fs)	rs1586472959

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.