List of variants in gene SI reported by Gharavi Laboratory, Columbia University

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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001041.4(SI):c.3896C>A (p.Ala1299Glu)	rs1559990008	0.00001
NM_001041.4(SI):c.1271T>A (p.Ile424Asn)	rs1560012386
NM_001041.4(SI):c.1347ACA[1] (p.Gln450del)	rs1446666305
NM_001041.4(SI):c.1849dup (p.Thr617fs)	rs1560006328
NM_001041.4(SI):c.2273C>A (p.Pro758His)	rs758287074
NM_001041.4(SI):c.2353G>C (p.Asp785His)	rs1560001335
NM_001041.4(SI):c.2654_2657del (p.Asp885fs)	rs1221816681
NM_001041.4(SI):c.2764_2767del (p.Asn922fs)	rs1559997823
NM_001041.4(SI):c.3482dup (p.Asn1161fs)	rs1316317368
NM_001041.4(SI):c.3505A>G (p.Asn1169Asp)	rs1559991401
NM_001041.4(SI):c.3865G>A (p.Gly1289Arg)	rs1559990351
NM_001041.4(SI):c.528T>A (p.Tyr176Ter)	rs1560016661

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.