List of variants in gene KCNJ1 reported by Martin Pollak Laboratory, Beth Israel Deaconess Medical Center

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: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_153766.3(KCNJ1):c.262A>G (p.Lys88Glu)	rs185212943	0.00043
NM_153766.3(KCNJ1):c.242A>G (p.Tyr81Cys)	rs387907439	0.00001
NM_153766.3(KCNJ1):c.*5G>A	rs387907437
NM_153766.3(KCNJ1):c.1027G>A (p.Glu343Lys)	rs387907436
NM_153766.3(KCNJ1):c.1028A>C (p.Glu343Ala)	rs387907435
NM_153766.3(KCNJ1):c.719A>C (p.Asn240Thr)	rs387907440
NM_153766.3(KCNJ1):c.98A>C (p.Glu33Ala)	rs387907438

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.