List of variants in gene KCNJ11 reported as benign

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: 50

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.*441T>C	rs2285676	0.43747
NM_001166290.2(KCNJ11):c.-17+438G>A	rs5222	0.43622
NM_000525.4(KCNJ11):c.570C>T (p.Ala190=)	rs5218	0.22765
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val)	rs1800467	0.03859
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=)	rs5216	0.01521
NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=)	rs8175351	0.01289
NM_000525.4(KCNJ11):c.*376C>T	rs5208	0.01164
NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys)	rs41282930	0.00987
NM_000525.4(KCNJ11):c.*76G>A	rs193076739	0.00819
NM_000525.4(KCNJ11):c.*766G>A	rs193101892	0.00683
NM_000525.4(KCNJ11):c.*92C>T	rs5212	0.00626
NM_000525.4(KCNJ11):c.*288G>A	rs5209	0.00590
NM_000525.4(KCNJ11):c.*487A>G	rs79457490	0.00588
NM_000525.4(KCNJ11):c.*529G>A	rs115826080	0.00510
NM_000525.4(KCNJ11):c.*1168G>A	rs182349583	0.00391
NM_000525.4(KCNJ11):c.*686A>G	rs147282653	0.00324
NM_000525.4(KCNJ11):c.*848A>G	rs5206	0.00291
NM_000525.4(KCNJ11):c.*1197G>A	rs191682072	0.00187
NM_000525.4(KCNJ11):c.1095C>T (p.Arg365=)	rs143276279	0.00187
NM_000525.4(KCNJ11):c.584G>A (p.Arg195His)	rs5217	0.00131
NM_000525.4(KCNJ11):c.1089A>G (p.Ser363=)	rs5214	0.00120
NM_000525.4(KCNJ11):c.852C>A (p.Ile284=)	rs1800854	0.00038
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=)	rs116392938	0.00029
NM_000525.4(KCNJ11):c.*697G>A	rs117976105	0.00014
NM_000525.4(KCNJ11):c.80G>A (p.Arg27His)	rs774714794	0.00004
NM_000525.4(KCNJ11):c.1034C>T (p.Thr345Met)	rs114215135	0.00003
NM_000525.4(KCNJ11):c.575G>A (p.Arg192His)	rs750778014	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
GRCh37/hg19 11p15.1(chr11:17405208-17409773)x1
NM_000525.4(KCNJ11):c.*62G>A	rs5213
NM_000525.4(KCNJ11):c.-507del	rs35513985
NM_000525.4(KCNJ11):c.1001G>A (p.Gly334Asp)	rs193929358
NM_000525.4(KCNJ11):c.103T>C (p.Phe35Leu)	rs193929333
NM_000525.4(KCNJ11):c.155A>G (p.Gln52Arg)	rs193929337
NM_000525.4(KCNJ11):c.158G>A (p.Gly53Asp)	rs80356615
NM_000525.4(KCNJ11):c.161G>A (p.Arg54His)	rs587783666
NM_000525.4(KCNJ11):c.175G>A (p.Val59Met)	rs80356616
NM_000525.4(KCNJ11):c.28G>A (p.Glu10Lys)	rs587783667
NM_000525.4(KCNJ11):c.309C>T (p.Ser103=)	rs376773562
NM_000525.4(KCNJ11):c.499A>C (p.Ile167Leu)	rs80356620
NM_000525.4(KCNJ11):c.510G>C (p.Lys170Asn)	rs80356622
NM_000525.4(KCNJ11):c.544A>G (p.Ile182Val)	rs193929348
NM_000525.4(KCNJ11):c.601C>T (p.Arg201Cys)	rs80356625
NM_000525.4(KCNJ11):c.679G>A (p.Glu227Lys)	rs587783672
NM_000525.4(KCNJ11):c.755T>C (p.Val252Ala)	rs193929352
NM_000525.4(KCNJ11):c.997T>A (p.Phe333Ile)	rs193929357

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.