ClinVar Miner

Variants from ClinVar Staff, National Center for Biotechnology Information (NCBI)

Location: United States — 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 protective risk factor not provided total
24 21 112 1 0 5 1 994 1158

Gene and significance breakdown #

Total genes and gene combinations: 70
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign protective risk factor not provided total
CFTR 0 0 0 0 0 0 371 371
BRCA1 0 0 0 0 0 0 264 264
BRCA2 0 0 0 0 0 0 180 180
CFTR, LOC111674472 0 0 0 0 0 0 44 44
MAN2B1 0 0 41 0 0 0 0 41
RBP3 1 0 38 0 0 0 0 39
KCNQ1 0 0 0 0 0 0 28 28
ALB 0 0 0 0 0 0 19 19
KCNQ4 17 0 0 0 0 0 1 18
CFTR, LOC111674475 0 0 0 0 0 0 15 15
MYPN 0 2 13 0 0 0 0 15
PAX2 0 0 0 0 0 0 12 12
PRKAG3 0 0 10 0 0 0 0 10
ADAR 0 8 0 0 0 0 0 8
ATP7B 0 0 0 0 0 0 7 7
CFTR, LOC113664106 0 0 0 0 0 0 7 7
EGFR 0 0 5 0 0 0 0 5
FAM111A 0 3 2 0 0 0 0 5
APOC3 0 0 0 0 4 0 0 4
B3GALNT2 0 4 0 0 0 0 0 4
ACVRL1 0 0 0 0 0 0 2 2
CFTR, LOC111674477 0 0 0 0 0 0 2 2
EPB42 0 0 2 0 0 0 0 2
ESR1 0 0 0 0 0 1 1 2
FCGR3A, FCGR3B 0 0 0 0 0 0 2 2
HARS2 0 2 0 0 0 0 0 2
IGH, IGHM 0 0 0 0 0 0 2 2
KCNQ1, KCNQ1OT1 0 0 0 0 0 0 2 2
MECP2 0 0 0 0 0 0 2 2
PTPRQ 0 0 0 0 0 0 2 2
RHCE 0 0 0 0 0 0 2 2
SACS 0 0 0 0 0 0 2 2
ADD3 1 0 0 0 0 0 0 1
AQP2, LOC101927318 0 0 0 0 0 0 1 1
ARHGAP11A-SCG5, LOC105370757, SCG5 1 0 0 0 0 0 0 1
ATM, C11orf65 0 0 0 0 0 0 1 1
ATRX 0 0 0 0 0 0 1 1
CACNA1S 0 0 0 0 0 0 1 1
CFTR, LOC111674467 0 0 0 0 0 0 1 1
CNGA3 0 0 0 0 0 0 1 1
COL7A1 0 0 0 0 0 0 1 1
CSRP3 0 0 0 0 0 0 1 1
FAM126A 0 0 0 0 0 0 1 1
FGFR2 1 0 0 0 0 0 0 1
GALC 0 0 1 0 0 0 0 1
GALT, IL11RA 1 0 0 0 0 0 0 1
GLRA1 0 0 0 0 0 0 1 1
HBB, LOC107133510, LOC110006319 0 0 0 0 0 0 1 1
HLA-B 0 0 0 0 0 0 1 1
KRAS 0 0 0 0 0 0 1 1
MMAB 0 0 0 1 0 0 0 1
MMP2 0 0 0 0 0 0 1 1
MYH11 0 0 0 0 0 0 1 1
NOTCH3 1 0 0 0 0 0 0 1
PACS1 0 1 0 0 0 0 0 1
PAX8 0 0 0 0 0 0 1 1
PECAM1 0 0 0 0 0 0 1 1
PEX1 0 0 0 0 0 0 1 1
POU3F4 0 0 0 0 0 0 1 1
PTCH1 0 0 0 0 0 0 1 1
PYGM 0 0 0 0 0 0 1 1
RET 0 0 0 0 0 0 1 1
SLC45A2 0 0 0 0 1 0 0 1
SPTLC2 1 0 0 0 0 0 0 1
STAT3 0 0 0 0 0 0 1 1
TMEM70 0 0 0 0 0 0 1 1
USB1 0 0 0 0 0 0 1 1
VWF 0 0 0 0 0 0 1 1
WRN 0 0 0 0 0 0 1 1
ZNF141 0 1 0 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 53
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Condition pathogenic likely pathogenic uncertain significance likely benign protective risk factor not provided total
Familial cancer of breast 0 0 0 0 0 1 444 445
Cystic fibrosis 0 0 0 0 0 0 440 440
Deficiency of alpha-mannosidase 0 0 41 0 0 0 0 41
Retinitis pigmentosa 66 1 0 38 0 0 0 0 39
not provided 0 0 0 0 0 0 30 30
Long QT syndrome, LQT1 subtype 0 0 0 0 0 0 26 26
DFNA 2 Nonsyndromic Hearing Loss 17 0 0 0 0 0 0 17
Dilated cardiomyopathy 1KK 0 2 13 0 0 0 0 15
Alloalbuminemia 0 0 0 0 0 0 10 10
Glycogen content in skeletal muscle, increased 0 0 10 0 0 0 0 10
Analbuminemia 0 0 0 0 0 0 9 9
Aicardi-Goutieres syndrome 6 0 8 0 0 0 0 0 8
Wilson disease 0 0 0 0 0 0 7 7
Lung cancer 0 0 5 0 0 0 0 5
Coronary heart disease 0 0 0 0 4 0 0 4
Jervell and Lange-Nielsen syndrome 1 0 0 0 0 0 0 4 4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 0 4 0 0 0 0 0 4
Gracile bone dysplasia 0 3 0 0 0 0 0 3
Agammaglobulinemia, non-Bruton type 0 0 0 0 0 0 2 2
Deafness, autosomal recessive 84 0 0 0 0 0 0 2 2
Hereditary hemorrhagic telangiectasia type 2 0 0 0 0 0 0 2 2
Kenny-Caffey syndrome type 2 0 0 2 0 0 0 0 2
Perrault syndrome 2 0 2 0 0 0 0 0 2
Spherocytosis type 5 0 0 2 0 0 0 0 2
ATR-X syndrome 0 0 0 0 0 0 1 1
Achromatopsia 2 0 0 0 0 0 0 1 1
Allopurinol response 0 0 0 0 0 0 1 1
Aortic aneurysm, familial thoracic 4 0 0 0 0 0 0 1 1
Ataxia-telangiectasia syndrome 0 0 0 0 0 0 1 1
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 1 0 0 0 0 0 0 1
Cerebral palsy 1 0 0 0 0 0 0 1
Deafness, X-linked 2 0 0 0 0 0 0 1 1
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 1 0 0 0 0 0 0 1
Dominant dystrophic epidermolysis bullosa with absence of skin 0 0 0 0 0 0 1 1
Estrogen resistance 0 0 0 0 0 0 1 1
Familial hypertrophic cardiomyopathy 12 0 0 0 0 0 0 1 1
Galactosylceramide beta-galactosidase deficiency 0 0 1 0 0 0 0 1
Glycogen storage disease, type V 0 0 0 0 0 0 1 1
Gorlin syndrome 0 0 0 0 0 0 1 1
Hereditary mixed polyposis syndrome 1 1 0 0 0 0 0 0 1
Hereditary sensory and autonomic neuropathy type IC 1 0 0 0 0 0 0 1
Hyperekplexia hereditary 0 0 0 0 0 0 1 1
Hypomyelination and Congenital Cataract 0 0 0 0 0 0 1 1
Leber congenital amaurosis 0 0 0 0 0 0 1 1
Malignant melanoma of skin 0 0 0 0 1 0 0 1
Methylmalonic aciduria cblB type 0 0 0 1 0 0 0 1
Multiple endocrine neoplasia, type 2a 0 0 0 0 0 0 1 1
Noonan syndrome 1 0 0 0 0 0 0 1 1
Pfeiffer syndrome 1 0 0 0 0 0 0 1
Poikiloderma with neutropenia 0 0 0 0 0 0 1 1
Postaxial polydactyly type A6 0 1 0 0 0 0 0 1
Schuurs-hoeijmakers syndrome 0 1 0 0 0 0 0 1
Werner syndrome 0 0 0 0 0 0 1 1

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