ClinVar Miner

List of variants in gene KCNJ5 reported as benign for congenital anomaly of cardiovascular system

Included ClinVar conditions (334):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000890.5(KCNJ5):c.844C>G (p.Gln282Glu) rs7102584 0.98759
NM_000890.5(KCNJ5):c.*410C>T rs2846675 0.84898
NM_000890.5(KCNJ5):c.171T>C (p.Ser57=) rs6590357 0.84812
NM_000890.5(KCNJ5):c.834T>C (p.His278=) rs7118833 0.84299
NM_000890.5(KCNJ5):c.810T>G (p.Leu270=) rs7118824 0.84187
NM_000890.5(KCNJ5):c.*928C>T rs7925056 0.82830
NM_000890.5(KCNJ5):c.938-10G>A rs4937391 0.74403
NM_000890.5(KCNJ5):c.*804G>T rs2604204 0.74160
NM_000890.5(KCNJ5):c.*1063G>A rs2846696 0.68788
NM_000890.5(KCNJ5):c.*1338del rs144472942 0.47522
NM_000890.5(KCNJ5):c.*1338C>A rs6590358 0.27661
NM_000890.5(KCNJ5):c.*779G>T rs4373934 0.19421
NM_000890.5(KCNJ5):c.*1168C>G rs1137937 0.18319
NM_000890.5(KCNJ5):c.*976G>A rs7102315 0.06508
NM_000890.5(KCNJ5):c.*528C>T rs3867250 0.06451
NM_000890.5(KCNJ5):c.937+7C>T rs45516097 0.06448
NM_000890.5(KCNJ5):c.938-11C>T rs72542772 0.00376
NM_000890.5(KCNJ5):c.121C>T (p.Arg41Cys) rs115012103 0.00300
NM_000890.5(KCNJ5):c.192C>T (p.His64=) rs140848236 0.00182
NM_000890.5(KCNJ5):c.837G>A (p.Glu279=) rs149861510 0.00087
NM_000890.5(KCNJ5):c.1149C>T (p.Pro383=) rs143219149 0.00078
NM_000890.5(KCNJ5):c.957G>A (p.Arg319=) rs192889782 0.00051
NM_000890.5(KCNJ5):c.744G>A (p.Glu248=) rs144040058 0.00037
NM_000890.5(KCNJ5):c.312C>T (p.Phe104=) rs201217363 0.00009
NM_000890.5(KCNJ5):c.738G>A (p.Glu246=) rs372736753 0.00008
NM_000890.5(KCNJ5):c.53C>T (p.Thr18Ile) rs375669366 0.00006
NM_000890.5(KCNJ5):c.1133A>C (p.Gln378Pro) rs544093099 0.00001
NM_000890.5(KCNJ5):c.*378dup rs397799938
NM_000890.5(KCNJ5):c.*861GTTTT[7] rs36205004
NM_000890.5(KCNJ5):c.1231G>A (p.Gly411Arg)
NM_000890.5(KCNJ5):c.144G>A (p.Lys48=)

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