ClinVar Miner

Variants from Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust

Location: United Kingdom — Primary collection method: literature only
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
0 103 64 1 0 1347 1512

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination likely pathogenic uncertain significance likely benign not provided total
SCN5A 0 0 0 455 455
KCNH2 0 0 0 415 415
KCNQ1 0 0 0 311 311
TTN 101 64 0 0 162
KCNJ2 0 0 0 49 49
KCNE1 0 0 0 35 35
LOC110121269, SCN5A 0 0 0 33 33
ANK2 0 0 0 20 20
KCNE2 0 0 0 19 19
CACNA1C 0 0 0 8 8
KCNQ1, KCNQ1OT1 0 0 0 2 2
FAM135A 0 0 1 0 1
LOC101927055, TTN 1 0 0 0 1
NDUFB11 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 18
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Condition likely pathogenic uncertain significance likely benign not provided total
Congenital long QT syndrome 0 0 0 892 892
Brugada syndrome 0 0 0 222 222
Primary dilated cardiomyopathy 102 64 0 6 169
not provided 0 0 0 155 155
Atrial fibrillation 0 0 0 17 17
SUDDEN INFANT DEATH SYNDROME 0 0 0 14 14
short QT syndrome 0 0 0 7 7
Acquired long QT syndrome 0 0 0 6 6
Arrhythmia 0 0 0 6 6
Cardiac conduction defect, nonspecific 0 0 0 6 6
Torsades de pointes 0 0 0 4 4
Ventricular tachycardia 0 0 0 4 4
Atrioventricular block 0 0 0 2 2
Infantile histiocytoid cardiomyopathy 1 0 1 0 2
Sudden cardiac death 0 0 0 2 2
Ventricular fibrillation 0 0 0 2 2
Familial periodic paralysis 0 0 0 1 1
Sick sinus syndrome 0 0 0 1 1

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