ClinVar Miner

List of variants in gene KCNJ2 reported by Ambry Genetics

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Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_000891.3(KCNJ2):c.1146C>T (p.Leu382=) rs173135 0.12771
NM_000891.3(KCNJ2):c.660C>T (p.Ser220=) rs7221086 0.06793
NM_000891.3(KCNJ2):c.1065T>G (p.Leu355=) rs139564374 0.00073
NM_000891.3(KCNJ2):c.213C>T (p.Asp71=) rs150671256 0.00070
NM_000891.3(KCNJ2):c.1044C>T (p.Tyr348=) rs146330042 0.00049
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.372C>T (p.Ser124=) rs138877244 0.00024
NM_000891.3(KCNJ2):c.1045G>A (p.Glu349Lys) rs375330016 0.00015
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.1244C>T (p.Pro415Leu) rs373799322 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.616G>A (p.Gly206Ser) rs141035459 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.277G>A (p.Val93Ile) rs147750704 0.00007
NM_000891.3(KCNJ2):c.973C>T (p.Arg325Cys) rs202067116 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.208G>T (p.Ala70Ser) rs375605948 0.00005
NM_000891.3(KCNJ2):c.96C>T (p.Asn32=) rs67120636 0.00005
NM_000891.3(KCNJ2):c.1164C>T (p.Asp388=) rs150855087 0.00004
NM_000891.3(KCNJ2):c.1199C>T (p.Thr400Met) rs144022753 0.00004
NM_000891.3(KCNJ2):c.119G>A (p.Arg40Gln) rs766143485 0.00004
NM_000891.3(KCNJ2):c.511A>G (p.Ile171Val) rs150326473 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.1205C>T (p.Thr402Met) rs759070406 0.00003
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.225G>A (p.Thr75=) rs192172778 0.00003
NM_000891.3(KCNJ2):c.359A>C (p.Lys120Thr) rs375646186 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.1165G>A (p.Asp389Asn) rs140053197 0.00002
NM_000891.3(KCNJ2):c.128G>A (p.Cys43Tyr) rs774424161 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.531C>T (p.Gly177=) rs544384907 0.00002
NM_000891.3(KCNJ2):c.858C>T (p.Asp286=) rs142750807 0.00002
NM_000891.3(KCNJ2):c.102G>C (p.Lys34Asn) rs1476737505 0.00001
NM_000891.3(KCNJ2):c.1035C>T (p.His345=) rs201747514 0.00001
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.1268G>A (p.Arg423Gln) rs745372216 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.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.389C>T (p.Thr130Met) rs151168735 0.00001
NM_000891.3(KCNJ2):c.435T>C (p.Tyr145=) rs773185250 0.00001
NM_000891.3(KCNJ2):c.466A>G (p.Ile156Val) rs767934529 0.00001
NM_000891.3(KCNJ2):c.476T>C (p.Phe159Ser) rs1236228202 0.00001
NM_000891.3(KCNJ2):c.498C>T (p.Ile166=) rs142049682 0.00001
NM_000891.3(KCNJ2):c.499G>A (p.Val167Met) rs140147979 0.00001
NM_000891.3(KCNJ2):c.532G>A (p.Ala178Thr) rs771965504 0.00001
NM_000891.3(KCNJ2):c.678T>C (p.His226=) rs559935671 0.00001
NM_000891.3(KCNJ2):c.694C>T (p.Leu232Phe) rs779856198 0.00001
NM_000891.3(KCNJ2):c.750C>A (p.Ile250=) rs886039094 0.00001
NM_000891.3(KCNJ2):c.845T>G (p.Leu282Trp) rs758092571 0.00001
NM_000891.3(KCNJ2):c.87C>T (p.Gly29=) rs1027878057 0.00001
NM_000891.3(KCNJ2):c.945T>C (p.Tyr315=) rs2074390355 0.00001
NM_000891.3(KCNJ2):c.953A>G (p.Asn318Ser) rs367560052 0.00001
NM_000891.3(KCNJ2):c.974G>A (p.Arg325His) rs1555604000 0.00001
NM_000891.3(KCNJ2):c.984T>C (p.Pro328=) rs905657549 0.00001
NM_000891.3(KCNJ2):c.-1G>A
NM_000891.3(KCNJ2):c.-1G>T
NM_000891.3(KCNJ2):c.1043A>G (p.Tyr348Cys) rs2144377812
NM_000891.3(KCNJ2):c.1050C>G (p.Val350=)
NM_000891.3(KCNJ2):c.1056C>T (p.Asn352=) rs1473243559
NM_000891.3(KCNJ2):c.1063C>T (p.Leu355Phe) rs1411366891
NM_000891.3(KCNJ2):c.1140T>C (p.Val380=)
NM_000891.3(KCNJ2):c.1142C>G (p.Ala381Gly)
NM_000891.3(KCNJ2):c.1147A>C (p.Thr383Pro)
NM_000891.3(KCNJ2):c.114C>T (p.His38=)
NM_000891.3(KCNJ2):c.1179A>G (p.Gly393=)
NM_000891.3(KCNJ2):c.1185A>G (p.Pro395=)
NM_000891.3(KCNJ2):c.1206G>T (p.Thr402=) rs1279223538
NM_000891.3(KCNJ2):c.1221C>A (p.Asp407Glu)
NM_000891.3(KCNJ2):c.1248A>G (p.Leu416=)
NM_000891.3(KCNJ2):c.1254C>G (p.Pro418=) rs748445140
NM_000891.3(KCNJ2):c.1264C>G (p.Arg422Gly)
NM_000891.3(KCNJ2):c.135C>T (p.Ser45=)
NM_000891.3(KCNJ2):c.13C>T (p.Arg5Ter) rs1042485
NM_000891.3(KCNJ2):c.171G>T (p.Gln57His)
NM_000891.3(KCNJ2):c.192G>A (p.Lys64=)
NM_000891.3(KCNJ2):c.199C>A (p.Arg67=)
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp) rs104894580
NM_000891.3(KCNJ2):c.207C>G (p.Leu69=) rs1007358932
NM_000891.3(KCNJ2):c.208G>A (p.Ala70Thr) rs375605948
NM_000891.3(KCNJ2):c.21C>G (p.Asn7Lys)
NM_000891.3(KCNJ2):c.226T>C (p.Cys76Arg)
NM_000891.3(KCNJ2):c.235A>G (p.Ile79Val)
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.2T>C (p.Met1Thr) rs786205810
NM_000891.3(KCNJ2):c.321T>C (p.Ala107=) rs2074386434
NM_000891.3(KCNJ2):c.33C>T (p.Ile11=) rs1463813330
NM_000891.3(KCNJ2):c.365G>A (p.Cys122Tyr) rs1555603931
NM_000891.3(KCNJ2):c.417C>A (p.Thr139=)
NM_000891.3(KCNJ2):c.417C>T (p.Thr139=)
NM_000891.3(KCNJ2):c.425C>T (p.Thr142Ile)
NM_000891.3(KCNJ2):c.46G>C (p.Glu16Gln)
NM_000891.3(KCNJ2):c.494C>T (p.Ser165Leu)
NM_000891.3(KCNJ2):c.510C>G (p.Ile170Met) rs1555603943
NM_000891.3(KCNJ2):c.585C>T (p.Phe195=)
NM_000891.3(KCNJ2):c.597C>A (p.Ala199=)
NM_000891.3(KCNJ2):c.615C>T (p.Asp205=) rs767844416
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp) rs104894578
NM_000891.3(KCNJ2):c.653G>A (p.Arg218Gln) rs199473384
NM_000891.3(KCNJ2):c.6C>T (p.Gly2=)
NM_000891.3(KCNJ2):c.786T>A (p.Phe262Leu)
NM_000891.3(KCNJ2):c.795C>T (p.Ser265=) rs1381202025
NM_000891.3(KCNJ2):c.819A>G (p.Ile273Met)
NM_000891.3(KCNJ2):c.864C>T (p.Asp288=) rs2144377560
NM_000891.3(KCNJ2):c.917C>T (p.Ala306Val)
NM_000891.3(KCNJ2):c.919A>G (p.Met307Val) rs1555603994

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