List of variants in gene KCNJ8 reported as likely benign for Brugada syndrome 1

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: 47

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004982.4(KCNJ8):c.1265C>T (p.Ser422Leu)	rs72554071	0.00121
NM_004982.4(KCNJ8):c.1036G>A (p.Val346Ile)	rs147316959	0.00028
NM_004982.4(KCNJ8):c.132C>T (p.Asn44=)	rs139389011	0.00008
NM_004982.4(KCNJ8):c.138G>T (p.Ala46=)	rs568067955	0.00008
NM_004982.4(KCNJ8):c.144G>A (p.Lys48=)	rs368274950	0.00006
NM_004982.4(KCNJ8):c.600C>T (p.Ala200=)	rs755870233	0.00005
NM_004982.4(KCNJ8):c.870G>A (p.Leu290=)	rs549973587	0.00005
NM_004982.4(KCNJ8):c.807C>T (p.His269=)	rs745683723	0.00004
NM_004982.4(KCNJ8):c.1266G>A (p.Ser422=)	rs772569559	0.00003
NM_004982.4(KCNJ8):c.768C>T (p.Ser256=)	rs1215164211	0.00003
NM_004982.4(KCNJ8):c.189C>T (p.Thr63=)	rs375355931	0.00002
NM_004982.4(KCNJ8):c.387T>C (p.Ser129=)	rs750398506	0.00002
NM_004982.4(KCNJ8):c.588T>C (p.His196=)	rs373707000	0.00002
NC_000012.12:g.21766263T>C	rs760966729	0.00001
NM_004982.4(KCNJ8):c.1066C>A (p.Arg356=)	rs778531267	0.00001
NM_004982.4(KCNJ8):c.1104C>T (p.Thr368=)	rs757713514	0.00001
NM_004982.4(KCNJ8):c.1257A>G (p.Gln419=)	rs751945188	0.00001
NM_004982.4(KCNJ8):c.12A>G (p.Arg4=)	rs775249538	0.00001
NM_004982.4(KCNJ8):c.225C>T (p.Ile75=)	rs1940806660	0.00001
NM_004982.4(KCNJ8):c.243C>T (p.Leu81=)	rs771727850	0.00001
NM_004982.4(KCNJ8):c.352A>G (p.Thr118Ala)	rs761526890	0.00001
NM_004982.4(KCNJ8):c.636G>A (p.Val212=)	rs1203539861	0.00001
NM_004982.4(KCNJ8):c.720G>A (p.Val240=)	rs876661349	0.00001
NM_004982.4(KCNJ8):c.786G>A (p.Val262=)	rs768927826	0.00001
NC_000012.12:g.21766209G>A	rs1032999622
NC_000012.12:g.21766281C>T	rs1940618882
NM_004982.4(KCNJ8):c.1122G>A (p.Leu374=)	rs974908995
NM_004982.4(KCNJ8):c.1143G>A (p.Arg381=)	rs1940605737
NM_004982.4(KCNJ8):c.18T>C (p.Ser6=)
NM_004982.4(KCNJ8):c.198C>T (p.Asp66=)	rs2137051977
NM_004982.4(KCNJ8):c.306T>C (p.Tyr102=)	rs752928813
NM_004982.4(KCNJ8):c.36T>C (p.Tyr12=)	rs1482460942
NM_004982.4(KCNJ8):c.374+8T>C	rs2540728080
NM_004982.4(KCNJ8):c.375-11A>C
NM_004982.4(KCNJ8):c.45G>A (p.Ala15=)	rs1162681542
NM_004982.4(KCNJ8):c.471G>C (p.Thr157=)	rs143319002
NM_004982.4(KCNJ8):c.483C>T (p.Leu161=)	rs2540721081
NM_004982.4(KCNJ8):c.591T>A (p.Ala197=)	rs145490575
NM_004982.4(KCNJ8):c.631C>A (p.Arg211=)
NM_004982.4(KCNJ8):c.642C>T (p.Asp214=)	rs2137047449
NM_004982.4(KCNJ8):c.648G>A (p.Arg216=)	rs2137047441
NM_004982.4(KCNJ8):c.66G>A (p.Leu22=)	rs770628869
NM_004982.4(KCNJ8):c.693G>A (p.Lys231=)
NM_004982.4(KCNJ8):c.762C>A (p.Ile254=)	rs772424315
NM_004982.4(KCNJ8):c.801C>T (p.Ile267=)
NM_004982.4(KCNJ8):c.819G>A (p.Lys273=)	rs1940614320
NM_004982.4(KCNJ8):c.969C>A (p.Arg323=)	rs1311193970

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.