ClinVar Miner

Variants from Biesecker Lab/Clinical Genomics Section, National Institutes of Health

Location: United States  Primary collection method: research
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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 total
25 17 1216 432 553 2243

Gene and significance breakdown #

Total genes and gene combinations: 151
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TTN 0 0 319 154 189 662
RYR1 3 1 58 5 7 74
AKAP9 0 0 17 33 15 65
BRCA2 7 0 25 10 13 55
DSP 0 0 20 17 12 49
APC 0 0 38 0 6 44
MYBPC3 2 0 19 7 10 38
ANK2 0 0 15 11 11 37
LAMA4 0 0 21 6 10 37
RYR2 0 0 22 7 7 36
DSG2 0 0 14 6 12 32
MYPN 0 0 16 6 10 32
PKP2 0 1 11 10 10 32
SCN5A 0 1 17 8 6 32
BRCA1 2 0 12 4 11 29
MYH6 0 0 16 6 5 27
TMPO 0 0 13 5 9 27
PMS2 0 1 13 0 12 26
TSC2 0 0 12 11 3 26
CACNA1C 0 0 12 5 7 24
MET 0 0 19 0 5 24
LDB3 0 0 10 3 7 20
MYH7 1 1 13 3 2 20
ACTN2 0 0 14 3 2 19
CACNB2 0 0 11 5 3 19
MUTYH 2 2 9 1 5 19
VCL 0 0 13 6 0 19
BAG3 0 0 8 4 6 18
DSC2 0 0 9 5 4 18
KCNH2 0 0 7 6 4 17
LOC126806432, TTN 0 0 10 5 2 17
TMEM43 0 0 9 2 6 17
DTNA 0 0 15 0 1 16
RET 1 0 10 1 4 16
TSC1 0 0 10 4 2 16
MSH6 1 0 11 0 3 15
PTCH1 0 0 11 0 4 15
HCN4 0 0 10 2 2 14
KCNA5 0 0 10 0 4 14
LOC101927055, TTN 0 0 5 1 8 14
MLH1 0 0 6 0 8 14
MSH2 0 0 12 0 2 14
JUP 0 0 10 0 3 13
NF1 0 0 11 0 2 13
PDGFRA 0 0 11 0 2 13
ABCC9 0 0 7 3 2 12
CASQ2 0 0 9 0 3 12
EYA4 0 0 9 1 2 12
PSEN2 0 0 8 3 1 12
MYLK2 0 0 8 2 1 11
SNTA1 0 0 9 1 1 11
FLCN 0 0 8 0 2 10
KCNQ1 1 1 3 4 1 10
KIT 0 0 9 0 1 10
LOC126806427, TTN 0 0 4 3 3 10
ANKRD1 0 0 5 2 2 9
BRCA1, LOC126862571 0 0 6 1 2 9
CDKN2A 0 0 7 0 2 9
ANK2, LOC126807137 0 0 3 3 2 8
LOC126806428, TTN 0 0 3 0 5 8
SGCD 0 0 5 1 2 8
GPD1L 0 0 4 3 0 7
KCNE1 0 0 4 1 2 7
LMNA 0 0 3 1 3 7
ABCC9, KCNJ8 0 0 3 3 0 6
ANK2, LOC126807136 0 0 3 3 0 6
CDH1 0 0 4 0 2 6
DES 0 0 4 0 2 6
LOC114827851, MYH6 0 0 3 0 3 6
LOC126806422, TTN 0 0 3 1 2 6
LOC126806425, TTN 0 0 1 3 2 6
LOC126806430, TTN 0 0 2 3 1 6
LOC126861896, MYH6 0 0 4 0 2 6
MEN1 0 0 4 0 2 6
MYOZ2 0 0 5 1 0 6
SCN1B 0 0 2 0 4 6
TCAP 0 0 3 2 1 6
CALR3 0 0 2 1 2 5
FH 0 0 5 0 0 5
LOC100507346, PTCH1 0 0 5 0 0 5
LOC126806420, TTN 0 0 3 0 2 5
LOC126806424, TTN 0 0 2 2 1 5
LOC126806426, TTN 0 0 3 2 0 5
PSEN1 0 0 3 0 2 5
SCN4B 0 0 4 1 0 5
SDHB 0 1 3 0 1 5
SDHC 1 0 2 0 2 5
TNNT2 0 0 4 0 1 5
BMPR1A 0 0 3 0 1 4
CAV3, OXTR 0 0 1 2 1 4
EYA4, TARID 0 0 3 1 0 4
JPH2 0 0 3 0 1 4
KCNE2, LOC105372791 0 0 2 1 1 4
LOC126806423, TTN 0 0 4 0 0 4
LOC126806429, TTN 0 0 2 1 1 4
LOC126806433, TTN 0 0 3 0 1 4
LOC129935183, TTN 0 0 0 0 4 4
MYL2 0 0 4 0 0 4
MYO1A 0 0 0 4 0 4
LDB3, LOC110121486 0 0 2 0 1 3
LOC110121269, SCN5A 0 0 1 0 2 3
LOC126806421, TTN 0 0 1 0 2 3
NAA10 0 3 0 0 0 3
RB1 0 0 3 0 0 3
SCN2B 0 0 3 0 0 3
SCN3B 0 0 3 0 0 3
TGFB3 0 0 2 1 0 3
CSRP3 0 0 0 1 1 2
IFT38 0 2 0 0 0 2
KCNE3 0 0 1 1 0 2
KCNJ2 0 0 2 0 0 2
LOC126806068, RYR2 0 0 0 2 0 2
LOC126806431, TTN 0 0 1 0 1 2
LOC126861538, MYO1A 0 0 0 2 0 2
LOC126861897, MHRT, MYH7 0 0 2 0 0 2
LOC126861898, MYH7 0 1 1 0 0 2
LOC126862902, RYR1 0 0 0 1 1 2
LOC129391106, RYR1 0 0 2 0 0 2
LOC129935182, TTN 0 0 1 1 0 2
MHRT, MYH7 0 0 1 0 1 2
SDHAF2 0 0 2 0 0 2
SDHD 0 0 2 0 0 2
SMAD4 0 0 2 0 0 2
TP53 0 0 1 0 1 2
TPM1 0 0 2 0 0 2
AKAP9, CYP51A1 0 0 0 0 1 1
AKT1 1 0 0 0 0 1
BBS10 0 1 0 0 0 1
CDC73 0 0 1 0 0 1
CEP85L, PLN 1 0 0 0 0 1
CNGB3 1 0 0 0 0 1
DSC2, DSG2 0 0 0 1 0 1
HCN4, LOC105370890 0 0 1 0 0 1
KCNE3, LIPT2 0 0 0 0 1 1
KCNK12, MSH2 0 0 0 0 1 1
LAMA4, LOC126859766 0 0 1 0 0 1
LDLR 0 1 0 0 0 1
LOC114827850, MYL2 0 0 0 0 1 1
LOC126861339, SDHD 0 0 0 0 1 1
LOC129935184, TTN 0 0 0 0 1 1
LOC129935185, TTN 0 0 0 0 1 1
LOC130065678, SNTA1 0 0 1 0 0 1
NF2 0 0 1 0 0 1
PKD1, TSC2 0 0 0 0 1 1
PTEN 0 0 1 0 0 1
SGCB 1 0 0 0 0 1
SMARCB1 0 0 1 0 0 1
TNNC1 0 0 1 0 0 1
TNNI3 0 0 1 0 0 1
VHL 0 0 1 0 0 1
WT1 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 58
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 0 0 1096 367 96 1559
not specified 0 0 0 1 398 399
Malignant hyperthermia, susceptibility to, 1 3 1 60 6 8 78
Long QT syndrome 0 0 10 10 4 24
Primary dilated cardiomyopathy 1 0 11 7 5 24
Arrhythmogenic right ventricular cardiomyopathy 0 1 4 9 9 23
Hypertrophic cardiomyopathy 0 1 12 2 6 21
Primary familial hypertrophic cardiomyopathy 1 1 3 4 4 13
Brugada syndrome 0 0 3 4 1 8
Cardiac arrhythmia 0 0 1 4 3 8
Breast-ovarian cancer, familial, susceptibility to, 2 4 0 0 1 2 7
Autosomal dominant nonsyndromic hearing loss 48 0 0 0 6 0 6
Alzheimer disease 0 0 2 1 2 5
Hereditary breast ovarian cancer syndrome 5 0 0 0 0 5
Familial adenomatous polyposis 2 2 2 0 0 0 4
Polymorphic ventricular tachycardia 0 0 4 0 0 4
Microphthalmia, syndromic 1 0 3 0 0 0 3
Breast-ovarian cancer, familial, susceptibility to, 1 0 0 0 2 0 2
Catecholaminergic polymorphic ventricular tachycardia 1 0 0 0 2 0 2
Colorectal cancer, hereditary nonpolyposis, type 2 0 0 0 0 2 2
Familial isolated arrhythmogenic right ventricular dysplasia 0 0 1 0 1 2
Joubert syndrome 0 2 0 0 0 2
Limb-girdle muscular dystrophy 0 0 0 1 1 2
Long QT syndrome 1 1 1 0 0 0 2
Long QT syndrome, drug-associated 0 0 0 1 1 2
Lynch syndrome 5 1 0 0 0 1 2
SUDDEN INFANT DEATH SYNDROME 0 0 1 1 0 2
Sudden cardiac death 0 0 0 1 1 2
Achromatopsia 3 1 0 0 0 0 1
Atrial fibrillation 0 0 0 0 1 1
Atrial fibrillation; Brugada syndrome 0 0 0 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2E 1 0 0 0 0 1
Bardet-Biedl syndrome 10 0 1 0 0 0 1
CDH1-related diffuse gastric and lobular breast cancer syndrome 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 1 1
Dilated cardiomyopathy 1E 0 1 0 0 0 1
Emery-Dreifuss muscular dystrophy 0 0 1 0 0 1
Familial medullary thyroid carcinoma 1 0 0 0 0 1
Hypercholesterolemia, familial, 1 0 1 0 0 0 1
Hypertrophic cardiomyopathy 4 1 0 0 0 0 1
Increased left ventricular wall thickness 0 0 0 1 0 1
Left ventricular noncompaction cardiomyopathy 1 0 0 0 0 1
Long QT syndrome 3 0 0 1 0 0 1
Long QT syndrome; Brugada syndrome 0 0 0 0 1 1
Lynch syndrome 4 0 1 0 0 0 1
Myocardial infarction 0 0 0 0 1 1
Noise induced hearing loss 0 0 0 0 1 1
Periodic paralysis 0 0 0 0 1 1
Pheochromocytoma/paraganglioma syndrome 3 1 0 0 0 0 1
Pheochromocytoma/paraganglioma syndrome 4 0 1 0 0 0 1
Primary dilated cardiomyopathy; Heart failure 0 0 1 0 0 1
Proteus syndrome 1 0 0 0 0 1
Pulmonary hypertension, primary, 1 0 0 1 0 0 1
SUDDEN INFANT DEATH SYNDROME; Brugada syndrome 0 0 1 0 0 1
Sinoatrial node disorder 0 0 1 0 0 1
Torsades de pointes 0 0 0 0 1 1
Ventricular tachycardia 0 0 1 0 0 1
altered potassium channel function 0 0 1 0 0 1

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