ClinVar Miner

List of variants in gene KCNJ8 reported as uncertain significance for Cardiovascular phenotype

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 47
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004982.4(KCNJ8):c.263C>G (p.Ala88Gly) rs117808169 0.00019
NM_004982.4(KCNJ8):c.332A>G (p.Glu111Gly) rs138391404 0.00018
NM_004982.4(KCNJ8):c.821G>A (p.Arg274His) rs149127157 0.00010
NM_004982.4(KCNJ8):c.1196G>A (p.Arg399Gln) rs142014286 0.00002
NM_004982.4(KCNJ8):c.353C>T (p.Thr118Ile) rs770087869 0.00002
NM_004982.4(KCNJ8):c.820C>T (p.Arg274Cys) rs781083385 0.00002
NM_004982.4(KCNJ8):c.1054C>T (p.Arg352Trp) rs556299317 0.00001
NM_004982.4(KCNJ8):c.1145A>G (p.Lys382Arg) rs752063865 0.00001
NM_004982.4(KCNJ8):c.1166A>G (p.Asn389Ser) rs368674776 0.00001
NM_004982.4(KCNJ8):c.352A>G (p.Thr118Ala) rs761526890 0.00001
NM_004982.4(KCNJ8):c.676C>T (p.Arg226Cys) rs763650307 0.00001
NM_004982.4(KCNJ8):c.6G>T (p.Leu2Phe) rs886038917 0.00001
NM_004982.4(KCNJ8):c.103C>G (p.Arg35Gly)
NM_004982.4(KCNJ8):c.1055G>A (p.Arg352Gln)
NM_004982.4(KCNJ8):c.1067G>A (p.Arg356Gln)
NM_004982.4(KCNJ8):c.1174A>G (p.Met392Val)
NM_004982.4(KCNJ8):c.1182G>C (p.Arg394Ser) rs730880120
NM_004982.4(KCNJ8):c.1192_1209dup (p.Ile398_Ser403dup) rs768365303
NM_004982.4(KCNJ8):c.1214T>C (p.Leu405Pro)
NM_004982.4(KCNJ8):c.148A>G (p.Ile50Val)
NM_004982.4(KCNJ8):c.289G>C (p.Ala97Pro)
NM_004982.4(KCNJ8):c.327_341dup (p.Gly114_Leu115insMetGluLysSerGly)
NM_004982.4(KCNJ8):c.353C>G (p.Thr118Ser) rs770087869
NM_004982.4(KCNJ8):c.43G>T (p.Ala15Ser)
NM_004982.4(KCNJ8):c.47G>A (p.Arg16His)
NM_004982.4(KCNJ8):c.49A>G (p.Ile17Val)
NM_004982.4(KCNJ8):c.538A>G (p.Lys180Glu)
NM_004982.4(KCNJ8):c.55G>T (p.Ala19Ser)
NM_004982.4(KCNJ8):c.620G>T (p.Cys207Phe)
NM_004982.4(KCNJ8):c.677G>A (p.Arg226His)
NM_004982.4(KCNJ8):c.707C>G (p.Pro236Arg)
NM_004982.4(KCNJ8):c.719T>C (p.Val240Ala) rs146747000
NM_004982.4(KCNJ8):c.727A>G (p.Ile243Val)
NM_004982.4(KCNJ8):c.760A>G (p.Ile254Val) rs1235054283
NM_004982.4(KCNJ8):c.765G>C (p.Glu255Asp)
NM_004982.4(KCNJ8):c.788C>T (p.Ala263Val)
NM_004982.4(KCNJ8):c.802T>C (p.Cys268Arg)
NM_004982.4(KCNJ8):c.808G>A (p.Val270Met)
NM_004982.4(KCNJ8):c.83G>C (p.Arg28Pro) rs768851540
NM_004982.4(KCNJ8):c.848C>T (p.Thr283Ile)
NM_004982.4(KCNJ8):c.852C>A (p.Asp284Glu)
NM_004982.4(KCNJ8):c.867C>G (p.Asp289Glu)
NM_004982.4(KCNJ8):c.88C>A (p.Arg30Ser) rs749697322
NM_004982.4(KCNJ8):c.88C>T (p.Arg30Cys) rs749697322
NM_004982.4(KCNJ8):c.89G>A (p.Arg30His)
NM_004982.4(KCNJ8):c.952A>G (p.Ile318Val)
NM_004982.4(KCNJ8):c.98A>G (p.Lys33Arg)

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.