ClinVar Miner

Variants from UniProtKB/Swiss-Prot

Location: Switzerland  Primary collection method: not provided
Minimum submission review status: Collection method:
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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 not provided total
0 1 2 2 0 916 921

Gene and significance breakdown #

Total genes and gene combinations: 66
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Gene or gene combination likely pathogenic uncertain significance likely benign not provided total
LOC102724058, SCN1A 0 1 0 106 107
SCN1A 0 1 0 85 86
NF1 0 0 0 73 73
CYBB 0 0 0 61 61
ARSA 0 0 0 60 60
F11 0 0 0 41 41
CACNA1A 0 0 1 38 39
OCRL 0 0 0 35 35
ADAMTS13 0 0 0 32 32
SLC37A4 0 0 0 32 32
SMARCA2 0 0 0 28 28
ADA 0 0 0 26 26
TPP1 0 0 0 23 23
DKC1 0 0 0 22 22
INS, INS-IGF2 0 0 1 20 21
RAG1 0 0 0 20 20
NCF2 0 0 0 17 17
AIRE 0 0 0 15 15
SERPING1 0 0 0 15 15
CARD14 0 0 0 13 13
IKBKG 0 0 0 10 10
ACTG1 0 0 0 9 9
ERCC8 0 0 0 7 7
SEMA3A 0 0 0 7 7
SLC46A1 0 0 0 7 7
SMAD4 0 0 0 7 7
CYBA 0 0 0 6 6
FREM1 0 0 0 6 6
MLC1 0 0 0 6 6
WDR11 0 0 0 6 6
CCBE1 0 0 0 5 5
CFHR5 0 0 0 5 5
SMARCA4 0 0 0 5 5
ACTB 0 0 0 4 4
GPR179 0 0 0 4 4
ITGB2 0 0 0 4 4
RAB7A 0 0 0 4 4
CARD14, SGSH 0 0 0 3 3
HAX1 0 0 0 3 3
LOC125446261, MLC1 0 0 0 3 3
PYCR1 0 0 0 3 3
SARM1, SLC46A1 0 0 0 3 3
TRPV3 0 0 0 3 3
WNT10A 0 0 0 3 3
ADA, LOC107303343 0 0 0 2 2
CACNA1A, LOC126862864 0 0 0 2 2
CBX2 0 0 0 2 2
CHST14 0 0 0 2 2
CYP26B1 0 0 0 2 2
ENPP1 0 0 0 2 2
HTRA1 0 0 0 2 2
RTTN 0 0 0 2 2
TACR3 0 0 0 2 2
VAPB 0 0 0 2 2
ABCD4 0 0 0 1 1
ADA, PKIG 0 0 0 1 1
ADAMTS13, LOC130002910 0 0 0 1 1
BMP1, LOC129999976 0 0 0 1 1
GFER 0 0 0 1 1
HCFC1 0 0 0 1 1
ITK 0 0 0 1 1
LOC126859653, SKIC2 0 0 0 1 1
MATR3 1 0 0 0 1
PRX 0 0 0 1 1
SLC33A1 0 0 0 1 1
TAC3 0 0 0 1 1

Condition and significance breakdown #

Total conditions: 31
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Condition likely pathogenic uncertain significance likely benign not provided total
not provided 0 0 2 534 536
Severe myoclonic epilepsy in infancy 0 0 0 150 150
Lowe syndrome 0 0 0 32 32
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 0 0 0 29 29
Generalized epilepsy with febrile seizures plus, type 1 0 0 0 23 23
Dyskeratosis congenita, X-linked 0 0 0 22 22
Neuronal ceroid lipofuscinosis 2 0 0 0 22 22
Episodic ataxia type 2 0 0 0 20 20
Permanent neonatal diabetes mellitus 0 0 0 16 16
Migraine, familial hemiplegic, 1 0 0 0 15 15
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 0 0 0 14 14
Hennekam lymphangiectasia-lymphedema syndrome 1 0 0 0 5 5
Generalized epilepsy 0 0 0 4 4
Migraine, familial hemiplegic, 3 0 0 0 4 4
Dent disease type 2 0 0 0 3 3
Focal epilepsy 0 0 0 3 3
Maturity-onset diabetes of the young type 10 0 0 0 3 3
46,XY sex reversal 5 0 0 0 2 2
Autism 0 2 0 0 2
CARASIL syndrome 0 0 0 2 2
Ehlers-Danlos syndrome, musculocontractural type 0 0 0 2 2
Hypophosphatemic rickets, autosomal recessive, 2 0 0 0 2 2
Spinocerebellar ataxia type 6 0 0 0 2 2
Amyotrophic lateral sclerosis type 21 1 0 0 0 1
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome 0 0 0 1 1
Generalized epilepsy with febrile seizures plus, type 2 0 0 0 1 1
Lymphoproliferative syndrome 1 0 0 0 1 1
Macrocephaly and epileptic encephalopathy 0 0 0 1 1
Myoclonic encephalopathy 0 0 0 1 1
Type 1 diabetes mellitus 2 0 0 0 1 1
West syndrome 0 0 0 1 1

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