List of variants studied for Andersen-Tawil syndrome by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000891.3(KCNJ2):c.973C>T (p.Arg325Cys)	rs202067116	0.00007
NM_000891.3(KCNJ2):c.953A>G (p.Asn318Ser)	rs367560052	0.00001
NM_000891.3(KCNJ2):c.1196G>C (p.Ser399Thr)	rs1598211624
NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp)	rs199473373
NM_000891.3(KCNJ2):c.245G>A (p.Arg82Gln)	rs199473653
NM_000891.3(KCNJ2):c.388A>G (p.Thr130Ala)	rs1555603936
NM_000891.3(KCNJ2):c.574A>G (p.Thr192Ala)	rs199473382
NM_000891.3(KCNJ2):c.653G>A (p.Arg218Gln)	rs199473384
NM_000891.3(KCNJ2):c.794C>T (p.Ser265Phe)	rs1598211406
NM_000891.3(KCNJ2):c.934C>T (p.Arg312Cys)	rs199473389
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His)	rs786205820

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.