ClinVar Miner

List of variants in gene KCNJ5 reported as likely benign for long QT syndrome

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 98
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HGVS dbSNP gnomAD frequency
NM_000890.5(KCNJ5):c.*34G>T rs116494206 0.01052
NM_000890.5(KCNJ5):c.*759C>T rs75453162 0.00373
NM_000890.5(KCNJ5):c.*547G>A rs114896724 0.00370
NM_000890.5(KCNJ5):c.121C>T (p.Arg41Cys) rs115012103 0.00300
NM_000890.5(KCNJ5):c.*1216C>T rs566376081 0.00293
NM_000890.5(KCNJ5):c.*1091G>A rs565178107 0.00218
NM_000890.5(KCNJ5):c.*96G>A rs77092337 0.00200
NM_000890.5(KCNJ5):c.*1302C>T rs552826605 0.00089
NM_000890.5(KCNJ5):c.1149C>T (p.Pro383=) rs143219149 0.00078
NM_000890.5(KCNJ5):c.*977T>C rs181648220 0.00068
NM_000890.5(KCNJ5):c.957G>A (p.Arg319=) rs192889782 0.00051
NM_000890.5(KCNJ5):c.-63G>C rs557063967 0.00044
NM_000890.5(KCNJ5):c.273C>T (p.Leu91=) rs146853795 0.00037
NM_000890.5(KCNJ5):c.744G>A (p.Glu248=) rs144040058 0.00037
NM_000890.5(KCNJ5):c.825C>A (p.Ile275=) rs113012271 0.00034
NM_000890.5(KCNJ5):c.*1310C>T rs537850039 0.00033
NM_000890.5(KCNJ5):c.1158G>C (p.Leu386=) rs141325005 0.00026
NM_000890.5(KCNJ5):c.122G>A (p.Arg41His) rs139073333 0.00025
NM_000890.5(KCNJ5):c.*960G>C rs186315097 0.00022
NM_000890.5(KCNJ5):c.645G>A (p.Leu215=) rs147245544 0.00021
NM_000890.5(KCNJ5):c.1123C>T (p.Arg375Trp) rs142454198 0.00017
NM_000890.5(KCNJ5):c.630G>A (p.Met210Ile) rs138295501 0.00016
NM_000890.5(KCNJ5):c.133G>A (p.Glu45Lys) rs372447456 0.00011
NM_000890.5(KCNJ5):c.312C>T (p.Phe104=) rs201217363 0.00009
NM_000890.5(KCNJ5):c.792C>T (p.Gly264=) rs750600982 0.00009
NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg) rs199830292 0.00008
NM_000890.5(KCNJ5):c.738G>A (p.Glu246=) rs372736753 0.00008
NM_000890.5(KCNJ5):c.1254G>A (p.Ser418=) rs528463709 0.00005
NM_000890.5(KCNJ5):c.739G>A (p.Gly247Arg) rs200170681 0.00005
NM_000890.5(KCNJ5):c.843C>T (p.Asn281=) rs370673577 0.00005
NM_000890.5(KCNJ5):c.366C>T (p.Gly122=) rs375205252 0.00004
NM_000890.5(KCNJ5):c.1230T>G (p.Gly410=) rs772009654 0.00003
NM_000890.5(KCNJ5):c.351C>T (p.Asp117=) rs765873474 0.00003
NM_000890.5(KCNJ5):c.405C>T (p.Gly135=) rs1249014742 0.00003
NM_000890.5(KCNJ5):c.438C>T (p.Thr146=) rs140697732 0.00003
NM_000890.5(KCNJ5):c.591G>A (p.Ala197=) rs750048771 0.00003
NM_000890.5(KCNJ5):c.615C>T (p.Asn205=) rs370546974 0.00003
NM_000890.5(KCNJ5):c.795C>T (p.Asp265=) rs757895735 0.00003
NM_000890.5(KCNJ5):c.10G>A (p.Asp4Asn) rs529755922 0.00002
NM_000890.5(KCNJ5):c.1190A>G (p.Glu397Gly) rs780934792 0.00002
NM_000890.5(KCNJ5):c.430A>G (p.Ile144Val) rs369703183 0.00002
NM_000890.5(KCNJ5):c.447C>T (p.Thr149=) rs140491115 0.00002
NM_000890.5(KCNJ5):c.492G>T (p.Gly164=) rs540291475 0.00002
NM_000890.5(KCNJ5):c.687C>T (p.Ile229=) rs149327599 0.00002
NM_000890.5(KCNJ5):c.1137C>T (p.Tyr379=) rs781130958 0.00001
NM_000890.5(KCNJ5):c.1155G>T (p.Leu385=) rs1202155314 0.00001
NM_000890.5(KCNJ5):c.120G>A (p.Thr40=) rs370114584 0.00001
NM_000890.5(KCNJ5):c.183C>T (p.Asn61=) rs760931417 0.00001
NM_000890.5(KCNJ5):c.198C>T (p.Asn66=) rs371347693 0.00001
NM_000890.5(KCNJ5):c.408C>T (p.Phe136=) rs780052854 0.00001
NM_000890.5(KCNJ5):c.414C>T (p.Ser138=) rs149219318 0.00001
NM_000890.5(KCNJ5):c.618A>G (p.Ala206=) rs758377412 0.00001
NM_000890.5(KCNJ5):c.732C>T (p.Thr244=) rs545729688 0.00001
NM_000890.5(KCNJ5):c.906G>T (p.Val302=) rs533482437 0.00001
NM_000890.5(KCNJ5):c.937+9C>T rs781582486 0.00001
NM_000890.5(KCNJ5):c.938-4C>T rs753186315 0.00001
NM_000890.5(KCNJ5):c.990C>A (p.Gly330=) rs1370256653 0.00001
NM_000890.5(KCNJ5):c.*121G>T rs78979538
NM_000890.5(KCNJ5):c.*936C>T rs77525858
NM_000890.5(KCNJ5):c.1026C>T (p.Gly342=)
NM_000890.5(KCNJ5):c.1071C>T (p.Thr357=) rs1159900612
NM_000890.5(KCNJ5):c.1098G>A (p.Glu366=)
NM_000890.5(KCNJ5):c.1161G>C (p.Gly387=) rs2136004112
NM_000890.5(KCNJ5):c.1194T>C (p.Ala398=)
NM_000890.5(KCNJ5):c.1200G>A (p.Gln400=)
NM_000890.5(KCNJ5):c.1227G>C (p.Leu409=)
NM_000890.5(KCNJ5):c.1237A>C (p.Arg413=)
NM_000890.5(KCNJ5):c.123C>T (p.Arg41=)
NM_000890.5(KCNJ5):c.1245C>G (p.Ala415=) rs919890581
NM_000890.5(KCNJ5):c.1248G>A (p.Arg416=)
NM_000890.5(KCNJ5):c.132C>T (p.Ala44=) rs757867512
NM_000890.5(KCNJ5):c.204G>A (p.Gln68=) rs1735429450
NM_000890.5(KCNJ5):c.246G>A (p.Val82=)
NM_000890.5(KCNJ5):c.276C>G (p.Val92=) rs1944499040
NM_000890.5(KCNJ5):c.297C>T (p.Val99=)
NM_000890.5(KCNJ5):c.330C>T (p.Leu110=) rs762272154
NM_000890.5(KCNJ5):c.411G>A (p.Val137=)
NM_000890.5(KCNJ5):c.597C>T (p.Thr199=) rs2135999272
NM_000890.5(KCNJ5):c.636C>T (p.Asp212=)
NM_000890.5(KCNJ5):c.666C>A (p.Gly222=)
NM_000890.5(KCNJ5):c.741G>A (p.Gly247=)
NM_000890.5(KCNJ5):c.741G>C (p.Gly247=)
NM_000890.5(KCNJ5):c.774C>T (p.Asn258=)
NM_000890.5(KCNJ5):c.789G>A (p.Thr263=)
NM_000890.5(KCNJ5):c.810T>A (p.Leu270=)
NM_000890.5(KCNJ5):c.810T>C (p.Leu270=) rs7118824
NM_000890.5(KCNJ5):c.813G>T (p.Val271=)
NM_000890.5(KCNJ5):c.828C>A (p.Ile276=)
NM_000890.5(KCNJ5):c.843_844delinsTG (p.Gln282Glu) rs1060503834
NM_000890.5(KCNJ5):c.849G>A (p.Lys283=)
NM_000890.5(KCNJ5):c.880C>T (p.Leu294=) rs2135999678
NM_000890.5(KCNJ5):c.938-11_938-10delinsTA rs2136003778
NM_000890.5(KCNJ5):c.938-13T>G rs2136003773
NM_000890.5(KCNJ5):c.938-20T>C
NM_000890.5(KCNJ5):c.966C>T (p.Tyr322=)
NM_000890.5(KCNJ5):c.96T>A (p.Tyr32Ter)
NM_000890.5(KCNJ5):c.96T>C (p.Tyr32=) rs767651199
NM_000890.5(KCNJ5):c.9C>T (p.Gly3=)

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