List of variants in gene KCNJ11 reported as likely benign for Maturity-onset diabetes of the young type 13

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile)	rs5215	0.71351
NM_000525.4(KCNJ11):c.*215C>T	rs5210	0.44390
NM_000525.4(KCNJ11):c.570C>T (p.Ala190=)	rs5218	0.22765
NM_000525.4(KCNJ11):c.1089A>G (p.Ser363=)	rs5214	0.00120
NM_000525.4(KCNJ11):c.678C>T (p.Pro226=)	rs74162102	0.00109
NM_000525.4(KCNJ11):c.1034C>T (p.Thr345Met)	rs114215135	0.00003
NM_000525.4(KCNJ11):c.*40C>T	rs746850899	0.00002
NM_000525.4(KCNJ11):c.804C>T (p.Tyr268=)	rs778225010	0.00002
NM_000525.4(KCNJ11):c.819C>T (p.Ser273=)	rs202238153	0.00001

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.