ClinVar Miner

List of variants in gene KCNJ2 reported as likely benign for congenital heart disease

Included ClinVar conditions (290):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 119
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HGVS dbSNP gnomAD frequency
NM_000891.3(KCNJ2):c.-163_-162insTC rs61077847 0.02248
NM_000891.3(KCNJ2):c.-162_-161insGAGTAGT rs58144126 0.02246
NM_000891.3(KCNJ2):c.1200G>A (p.Thr400=) rs201253055 0.00042
NM_000891.3(KCNJ2):c.1229A>G (p.Asn410Ser) rs141069645 0.00042
NM_000891.3(KCNJ2):c.174C>T (p.Phe58=) rs587781006 0.00014
NM_000891.3(KCNJ2):c.-2C>T rs144760658 0.00013
NM_000891.3(KCNJ2):c.132G>A (p.Arg44=) rs551369705 0.00011
NM_000891.3(KCNJ2):c.168T>C (p.Val56=) rs370111593 0.00011
NM_000891.3(KCNJ2):c.867C>T (p.Asn289=) rs201909993 0.00010
NM_000891.3(KCNJ2):c.327C>T (p.Leu109=) rs140274795 0.00009
NM_000891.3(KCNJ2):c.60G>A (p.Lys20=) rs768120590 0.00009
NM_000891.3(KCNJ2):c.1080C>T (p.Asp360=) rs66476803 0.00007
NM_000891.3(KCNJ2):c.366T>C (p.Cys122=) rs748924113 0.00006
NM_000891.3(KCNJ2):c.51C>T (p.Asp17=) rs141965142 0.00006
NM_000891.3(KCNJ2):c.1164C>T (p.Asp388=) rs150855087 0.00004
NM_000891.3(KCNJ2):c.570C>T (p.Asn190=) rs183993685 0.00004
NM_000891.3(KCNJ2):c.597C>T (p.Ala199=) rs771056622 0.00004
NM_000891.3(KCNJ2):c.1206G>A (p.Thr402=) rs1279223538 0.00003
NM_000891.3(KCNJ2):c.1227C>T (p.His409=) rs933444870 0.00003
NM_000891.3(KCNJ2):c.1259C>T (p.Pro420Leu) rs749707062 0.00003
NM_000891.3(KCNJ2):c.513C>T (p.Ile171=) rs573888708 0.00003
NM_000891.3(KCNJ2):c.1002G>A (p.Lys334=) rs372264881 0.00002
NM_000891.3(KCNJ2):c.282G>A (p.Leu94=) rs776798798 0.00002
NM_000891.3(KCNJ2):c.411T>C (p.Ile137=) rs775567368 0.00002
NM_000891.3(KCNJ2):c.858C>T (p.Asp286=) rs142750807 0.00002
NM_000891.3(KCNJ2):c.882C>T (p.Ile294=) rs751279819 0.00002
NM_000891.3(KCNJ2):c.1083A>G (p.Leu361=) rs767166881 0.00001
NM_000891.3(KCNJ2):c.1104C>T (p.Leu368=) rs753839703 0.00001
NM_000891.3(KCNJ2):c.1212T>C (p.Pro404=) rs763917912 0.00001
NM_000891.3(KCNJ2):c.1275G>A (p.Ser425=) rs555386610 0.00001
NM_000891.3(KCNJ2):c.138C>T (p.Arg46=) rs997406384 0.00001
NM_000891.3(KCNJ2):c.219C>T (p.Phe73=) rs1434901464 0.00001
NM_000891.3(KCNJ2):c.222C>T (p.Thr74=) rs1053161336 0.00001
NM_000891.3(KCNJ2):c.24C>T (p.Arg8=) rs550697411 0.00001
NM_000891.3(KCNJ2):c.261C>T (p.Ile87=) rs1166497262 0.00001
NM_000891.3(KCNJ2):c.276C>T (p.Phe92=) rs556248547 0.00001
NM_000891.3(KCNJ2):c.279C>T (p.Val93=) rs767566718 0.00001
NM_000891.3(KCNJ2):c.303T>C (p.Cys101=) rs376921497 0.00001
NM_000891.3(KCNJ2):c.387C>T (p.Phe129=) rs1402832714 0.00001
NM_000891.3(KCNJ2):c.390G>A (p.Thr130=) rs745672560 0.00001
NM_000891.3(KCNJ2):c.435T>C (p.Tyr145=) rs773185250 0.00001
NM_000891.3(KCNJ2):c.453G>A (p.Thr151=) rs751862699 0.00001
NM_000891.3(KCNJ2):c.465A>G (p.Pro155=) rs759879267 0.00001
NM_000891.3(KCNJ2):c.498C>T (p.Ile166=) rs142049682 0.00001
NM_000891.3(KCNJ2):c.579T>G (p.Leu193=) rs773272852 0.00001
NM_000891.3(KCNJ2):c.675T>C (p.Ala225=) rs201850260 0.00001
NM_000891.3(KCNJ2):c.678T>C (p.His226=) rs559935671 0.00001
NM_000891.3(KCNJ2):c.687A>G (p.Ala229=) rs1276042254 0.00001
NM_000891.3(KCNJ2):c.750C>A (p.Ile250=) rs886039094 0.00001
NM_000891.3(KCNJ2):c.75A>C (p.Ala25=) rs1217136489 0.00001
NM_000891.3(KCNJ2):c.81A>C (p.Ala27=) rs2074384649 0.00001
NM_000891.3(KCNJ2):c.87C>T (p.Gly29=) rs1027878057 0.00001
NM_000891.3(KCNJ2):c.924G>A (p.Thr308=) rs1441547463 0.00001
NM_000891.3(KCNJ2):c.945T>C (p.Tyr315=) rs2074390355 0.00001
NM_000891.3(KCNJ2):c.984T>C (p.Pro328=) rs905657549 0.00001
NM_000891.3(KCNJ2):c.99G>A (p.Gly33=) rs769513425 0.00001
NM_000891.3(KCNJ2):c.9T>C (p.Ser3=) rs1598210962 0.00001
NM_000891.3(KCNJ2):c.1005C>T (p.His335=) rs2144377784
NM_000891.3(KCNJ2):c.102G>A (p.Lys34=) rs1476737505
NM_000891.3(KCNJ2):c.1053C>T (p.Pro351=) rs2144377840
NM_000891.3(KCNJ2):c.1056C>T (p.Asn352=) rs1473243559
NM_000891.3(KCNJ2):c.1086A>G (p.Ala362=)
NM_000891.3(KCNJ2):c.1179A>G (p.Gly393=)
NM_000891.3(KCNJ2):c.1206G>T (p.Thr402=) rs1279223538
NM_000891.3(KCNJ2):c.1215C>T (p.Asp405=) rs863224374
NM_000891.3(KCNJ2):c.1248A>G (p.Leu416=)
NM_000891.3(KCNJ2):c.1254C>A (p.Pro418=)
NM_000891.3(KCNJ2):c.1254C>G (p.Pro418=) rs748445140
NM_000891.3(KCNJ2):c.1260C>G (p.Pro420=) rs1257779655
NM_000891.3(KCNJ2):c.126G>A (p.Gln42=) rs2144376459
NM_000891.3(KCNJ2):c.186T>C (p.Gly62=) rs2144376552
NM_000891.3(KCNJ2):c.18C>A (p.Thr6=) rs2144376313
NM_000891.3(KCNJ2):c.207C>G (p.Leu69=) rs1007358932
NM_000891.3(KCNJ2):c.207C>T (p.Leu69=)
NM_000891.3(KCNJ2):c.225G>T (p.Thr75=)
NM_000891.3(KCNJ2):c.234C>T (p.Asp78=)
NM_000891.3(KCNJ2):c.244C>A (p.Arg82=)
NM_000891.3(KCNJ2):c.246G>A (p.Arg82=)
NM_000891.3(KCNJ2):c.285A>T (p.Ser95=) rs1388829981
NM_000891.3(KCNJ2):c.297T>C (p.Phe99=)
NM_000891.3(KCNJ2):c.306G>C (p.Val102=) rs2144376790
NM_000891.3(KCNJ2):c.321T>C (p.Ala107=) rs2074386434
NM_000891.3(KCNJ2):c.322C>T (p.Leu108=) rs371331394
NM_000891.3(KCNJ2):c.324G>A (p.Leu108=) rs900684102
NM_000891.3(KCNJ2):c.333G>A (p.Gly111=) rs2144376829
NM_000891.3(KCNJ2):c.402C>T (p.Leu134=)
NM_000891.3(KCNJ2):c.417C>A (p.Thr139=)
NM_000891.3(KCNJ2):c.417C>T (p.Thr139=)
NM_000891.3(KCNJ2):c.426C>G (p.Thr142=)
NM_000891.3(KCNJ2):c.42A>G (p.Ser14=) rs2144376348
NM_000891.3(KCNJ2):c.453G>C (p.Thr151=)
NM_000891.3(KCNJ2):c.489C>T (p.Phe163=)
NM_000891.3(KCNJ2):c.48A>G (p.Glu16=) rs1470684052
NM_000891.3(KCNJ2):c.510C>T (p.Ile170=)
NM_000891.3(KCNJ2):c.531C>A (p.Gly177=)
NM_000891.3(KCNJ2):c.564G>A (p.Lys188=)
NM_000891.3(KCNJ2):c.585C>T (p.Phe195=)
NM_000891.3(KCNJ2):c.591C>T (p.His197=)
NM_000891.3(KCNJ2):c.615C>T (p.Asp205=) rs767844416
NM_000891.3(KCNJ2):c.684A>C (p.Arg228=) rs758144475
NM_000891.3(KCNJ2):c.690G>A (p.Gln230=) rs2074388781
NM_000891.3(KCNJ2):c.696C>T (p.Leu232=)
NM_000891.3(KCNJ2):c.699A>G (p.Lys233=)
NM_000891.3(KCNJ2):c.6C>T (p.Gly2=)
NM_000891.3(KCNJ2):c.723G>A (p.Glu241=)
NM_000891.3(KCNJ2):c.762T>C (p.Phe254=)
NM_000891.3(KCNJ2):c.774C>T (p.Ile258=) rs1057524125
NM_000891.3(KCNJ2):c.789G>C (p.Leu263=)
NM_000891.3(KCNJ2):c.792G>A (p.Val264=) rs2144377441
NM_000891.3(KCNJ2):c.795C>T (p.Ser265=) rs1381202025
NM_000891.3(KCNJ2):c.810C>T (p.Val270=) rs1049263340
NM_000891.3(KCNJ2):c.828C>T (p.Asp276=)
NM_000891.3(KCNJ2):c.849T>C (p.Ser283=) rs2074389639
NM_000891.3(KCNJ2):c.864C>T (p.Asp288=) rs2144377560
NM_000891.3(KCNJ2):c.87C>A (p.Gly29=) rs1027878057
NM_000891.3(KCNJ2):c.885G>A (p.Val295=)
NM_000891.3(KCNJ2):c.93G>A (p.Gly31=)
NM_000891.3(KCNJ2):c.993T>C (p.Phe331=)
NM_000891.3(KCNJ2):c.999G>A (p.Glu333=) rs2144377764

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