List of variants in gene KCNJ2 reported as likely pathogenic for Andersen-Tawil syndrome

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: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000891.3(KCNJ2):c.637C>T (p.Arg213Ter)	rs764523123	0.00001
NM_000891.3(KCNJ2):c.200G>A (p.Arg67Gln)	rs199473368
NM_000891.3(KCNJ2):c.211G>C (p.Asp71His)	rs199473369
NM_000891.3(KCNJ2):c.407_409delinsTTT (p.Ser136_Ile137delinsPhePhe)	rs864622292
NM_000891.3(KCNJ2):c.434A>G (p.Tyr145Cys)	rs2074387117
NM_000891.3(KCNJ2):c.461G>A (p.Cys154Tyr)	rs199473380
NM_000891.3(KCNJ2):c.557C>A (p.Pro186Gln)	rs104894581
NM_000891.3(KCNJ2):c.566G>A (p.Arg189Lys)	rs199473381
NM_000891.3(KCNJ2):c.598G>A (p.Val200Met)
NM_000891.3(KCNJ2):c.646A>T (p.Asn216Tyr)	rs104894583
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp)	rs104894578
NM_000891.3(KCNJ2):c.653G>C (p.Arg218Pro)	rs199473384
NM_000891.3(KCNJ2):c.779G>A (p.Arg260His)	rs199473385
NM_000891.3(KCNJ2):c.896A>G (p.Glu299Gly)	rs786205817
NM_000891.3(KCNJ2):c.913A>G (p.Thr305Ala)	rs199473387
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His)	rs786205820
NM_000891.3(KCNJ2):c.939_944del (p.Ser314_Tyr315del)	rs2074390325

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.