ClinVar Miner

List of variants in gene KCNJ2 reported as benign for short QT syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000891.3(KCNJ2):c.*1267A>G rs236514 0.52229
NM_000891.3(KCNJ2):c.1146C>T (p.Leu382=) rs173135 0.12771
NM_000891.3(KCNJ2):c.*1069C>T rs45603434 0.09819
NM_000891.3(KCNJ2):c.*624G>A rs9302915 0.07098
NM_000891.3(KCNJ2):c.*558C>T rs9302914 0.06842
NM_000891.3(KCNJ2):c.*136G>A rs73998781 0.06798
NM_000891.3(KCNJ2):c.660C>T (p.Ser220=) rs7221086 0.06793
NM_000891.3(KCNJ2):c.*1198A>G rs9895478 0.06787
NM_000891.3(KCNJ2):c.*1251C>T rs9894661 0.06785
NM_000891.3(KCNJ2):c.*1266C>T rs9894677 0.06783
NM_000891.3(KCNJ2):c.*832G>A rs10083831 0.06743
NM_000891.3(KCNJ2):c.*2752T>C rs993085233 0.04719
NM_000891.3(KCNJ2):c.*2758T>C rs1324652195 0.04554
NM_000891.3(KCNJ2):c.*1596A>C rs117409545 0.02347
NM_000891.3(KCNJ2):c.*3496T>C rs3815307 0.01760
NM_000891.3(KCNJ2):c.*211T>C rs56194813 0.00513
NM_000891.3(KCNJ2):c.*1350G>A rs116077770 0.00360
NM_000891.3(KCNJ2):c.*79C>T rs55970278 0.00327
NM_000891.3(KCNJ2):c.*2262C>T rs575383136 0.00279
NM_000891.3(KCNJ2):c.*3163T>A rs149224363 0.00248
NM_000891.3(KCNJ2):c.*3208A>G rs188533495 0.00233
NM_000891.3(KCNJ2):c.*2893C>T rs137870461 0.00231
NM_000891.3(KCNJ2):c.*732T>G rs150985434 0.00145
NM_000891.3(KCNJ2):c.*210A>T rs146282466 0.00140
NM_000891.3(KCNJ2):c.-314T>C rs566186294 0.00140
NM_000891.3(KCNJ2):c.*766C>T rs186842823 0.00130
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.*996C>T rs77958248 0.00035
NM_000891.3(KCNJ2):c.*1125G>A rs191729421 0.00033
NM_000891.3(KCNJ2):c.*35A>C rs72552029 0.00033
NM_000891.3(KCNJ2):c.372C>T (p.Ser124=) rs138877244 0.00024
NM_000891.3(KCNJ2):c.*1465A>G rs183514608 0.00018
NM_000891.3(KCNJ2):c.*108G>A rs188588568 0.00017
NM_000891.3(KCNJ2):c.*1815G>A rs552577704 0.00008
NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile) rs147750704 0.00007
NM_000891.3(KCNJ2):c.96C>T (p.Asn32=) rs67120636 0.00005
NM_000891.3(KCNJ2):c.225G>A (p.Thr75=) rs192172778 0.00003
NM_000891.3(KCNJ2):c.531C>T (p.Gly177=) rs544384907 0.00002
NM_000891.3(KCNJ2):c.*572G>T rs566129544 0.00001
NM_000891.3(KCNJ2):c.1035C>T (p.His345=) rs201747514 0.00001
NM_000891.3(KCNJ2):c.1275G>A (p.Ser425=) rs555386610 0.00001
NM_000891.3(KCNJ2):c.*1678dup rs145779709
NM_000891.3(KCNJ2):c.*640GTT[4] rs397705636
NM_000891.3(KCNJ2):c.1254C>G (p.Pro418=) rs748445140

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