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
25 21 112 1 1 5 1 994 1160

Gene and significance breakdown #

Total genes and gene combinations: 81
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign protective risk factor not provided total
CFTR 0 0 0 0 0 0 0 371 371
BRCA1 0 0 0 0 0 0 0 225 225
BRCA2 0 0 0 0 0 0 0 180 180
CFTR, LOC111674472 0 0 0 0 0 0 0 44 44
BRCA1, LOC126862571 0 0 0 0 0 0 0 39 39
RBP3 1 0 38 0 0 0 0 0 39
MAN2B1 0 0 36 0 0 0 0 0 36
KCNQ1 0 0 0 0 0 0 0 28 28
ALB 0 0 0 0 0 0 0 19 19
KCNQ4 16 0 0 0 0 0 0 1 17
CFTR, LOC111674475 0 0 0 0 0 0 0 15 15
MYPN 0 2 13 0 0 0 0 0 15
PAX2 0 0 0 0 0 0 0 11 11
PRKAG3 0 0 10 0 0 0 0 0 10
CFTR, LOC113664106 0 0 0 0 0 0 0 7 7
ATP7B 0 0 0 0 0 0 0 6 6
ADAR 0 5 0 0 0 0 0 0 5
EGFR 0 0 5 0 0 0 0 0 5
APOC3 0 0 0 0 0 4 0 0 4
B3GALNT2 0 4 0 0 0 0 0 0 4
FAM111A 0 2 2 0 0 0 0 0 4
LOC129391064, MAN2B1 0 0 4 0 0 0 0 0 4
ADAR, LOC126805874 0 3 0 0 0 0 0 0 3
ACVRL1 0 0 0 0 0 0 0 2 2
CFTR, LOC111674477 0 0 0 0 0 0 0 2 2
EPB42 0 0 2 0 0 0 0 0 2
ESR1 0 0 0 0 0 0 1 1 2
HARS2 0 2 0 0 0 0 0 0 2
IGH, IGHM 0 0 0 0 0 0 0 2 2
KCNQ1, KCNQ1OT1 0 0 0 0 0 0 0 2 2
MECP2 0 0 0 0 0 0 0 2 2
PTPRQ 0 0 0 0 0 0 0 2 2
RHCE 0 0 0 0 0 0 0 2 2
SACS 0 0 0 0 0 0 0 2 2
ADD3 1 0 0 0 0 0 0 0 1
AQP2, AQP5 0 0 0 0 0 0 0 1 1
ARHGAP11A-SCG5, LOC125078054, SCG5 1 0 0 0 0 0 0 0 1
ATM, C11orf65 0 0 0 0 0 0 0 1 1
ATRX 0 0 0 0 0 0 0 1 1
CACNA1S 0 0 0 0 0 0 0 1 1
CFTR, LOC111674467 0 0 0 0 0 0 0 1 1
CNGA3 0 0 0 0 0 0 0 1 1
COL5A1 0 0 0 0 0 0 0 1 1
COL7A1 0 0 0 0 0 0 0 1 1
CSRP3 0 0 0 0 0 0 0 1 1
DYNC1H1 0 0 0 0 0 0 0 1 1
FAM111A, LOC130005740 0 1 0 0 0 0 0 0 1
FGFR2 1 0 0 0 0 0 0 0 1
GALC 0 0 1 0 0 0 0 0 1
GALT, IL11RA, LOC121331325, LOC130001682, LOC130001683, LOC130001684 1 0 0 0 0 0 0 0 1
GAN 0 0 0 0 1 0 0 0 1
GLRA1 0 0 0 0 0 0 0 1 1
HBB, LOC107133510, LOC110006319 0 0 0 0 0 0 0 1 1
HLA-B 0 0 0 0 0 0 0 1 1
HYCC1 0 0 0 0 0 0 0 1 1
KCNQ4, LOC129930282 1 0 0 0 0 0 0 0 1
KRAS 0 0 0 0 0 0 0 1 1
LOC130063648, MAN2B1 0 0 1 0 0 0 0 0 1
MED25 0 0 0 0 0 0 0 1 1
MMAB, MVK 0 0 0 1 0 0 0 0 1
MMP2 0 0 0 0 0 0 0 1 1
MYH11 0 0 0 0 0 0 0 1 1
NAGLU 0 0 0 0 0 0 0 1 1
NEFL 0 0 0 0 0 0 0 1 1
NOTCH3 1 0 0 0 0 0 0 0 1
PACS1 0 1 0 0 0 0 0 0 1
PAX8 0 0 0 0 0 0 0 1 1
PECAM1 0 0 0 0 0 0 0 1 1
PEX1 0 0 0 0 0 0 0 1 1
POU3F4 0 0 0 0 0 0 0 1 1
PSEN1 0 0 0 0 0 0 0 1 1
PTCH1 0 0 0 0 0 0 0 1 1
PYGM 0 0 0 0 0 0 0 1 1
SCN1A 1 0 0 0 0 0 0 0 1
SLC45A2 0 0 0 0 0 1 0 0 1
SPTLC2 1 0 0 0 0 0 0 0 1
STAT3 0 0 0 0 0 0 0 1 1
TMEM70 0 0 0 0 0 0 0 1 1
USB1 0 0 0 0 0 0 0 1 1
VWF 0 0 0 0 0 0 0 1 1
ZNF141 0 1 0 0 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 59
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Condition pathogenic likely pathogenic uncertain significance likely benign benign protective risk factor not provided total
Familial cancer of breast 0 0 0 0 0 0 1 444 445
Cystic fibrosis 0 0 0 0 0 0 0 440 440
Deficiency of alpha-mannosidase 0 0 41 0 0 0 0 0 41
Retinitis pigmentosa 66 1 0 38 0 0 0 0 0 39
not provided 0 0 0 0 0 0 0 27 27
Long QT syndrome 1 0 0 0 0 0 0 0 26 26
Autosomal dominant nonsyndromic hearing loss 2A 17 0 0 0 0 0 0 0 17
Dilated cardiomyopathy 1KK 0 2 13 0 0 0 0 0 15
Alloalbuminemia 0 0 0 0 0 0 0 10 10
Increased muscle glycogen content 0 0 10 0 0 0 0 0 10
Analbuminemia 0 0 0 0 0 0 0 9 9
Aicardi-Goutieres syndrome 6 0 8 0 0 0 0 0 0 8
Wilson disease 0 0 0 0 0 0 0 6 6
Lung carcinoma 0 0 5 0 0 0 0 0 5
Coronary heart disease 0 0 0 0 0 4 0 0 4
Jervell and Lange-Nielsen syndrome 1 0 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 0 4
Osteocraniostenosis 0 3 0 0 0 0 0 0 3
Autosomal dominant Kenny-Caffey syndrome 0 0 2 0 0 0 0 0 2
Autosomal recessive agammaglobulinemia 1 0 0 0 0 0 0 0 2 2
Autosomal recessive nonsyndromic hearing loss 84A 0 0 0 0 0 0 0 2 2
Hereditary spherocytosis type 5 0 0 2 0 0 0 0 0 2
Perrault syndrome 2 0 2 0 0 0 0 0 0 2
Telangiectasia, hereditary hemorrhagic, type 2 0 0 0 0 0 0 0 2 2
Achromatopsia 2 0 0 0 0 0 0 0 1 1
Allopurinol response 0 0 0 0 0 0 0 1 1
Alpha thalassemia-X-linked intellectual disability syndrome 0 0 0 0 0 0 0 1 1
Alzheimer disease 3 0 0 0 0 0 0 0 1 1
Aortic aneurysm, familial thoracic 4 0 0 0 0 0 0 0 1 1
Ataxia-telangiectasia syndrome 0 0 0 0 0 0 0 1 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 1 0 0 0 0 0 0 0 1
Cerebral palsy 1 0 0 0 0 0 0 0 1
Charcot-Marie-Tooth disease 0 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease axonal type 2V 0 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease type 2B2 0 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease type 2E 0 0 0 0 0 0 0 1 1
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 1 0 0 0 0 0 0 0 1
Dominant dystrophic epidermolysis bullosa with absence of skin 0 0 0 0 0 0 0 1 1
Ehlers-Danlos syndrome, classic type, 1 0 0 0 0 0 0 0 1 1
Estrogen resistance syndrome 0 0 0 0 0 0 0 1 1
Galactosylceramide beta-galactosidase deficiency 0 0 1 0 0 0 0 0 1
Giant axonal neuropathy 1 0 0 0 0 1 0 0 0 1
Glycogen storage disease, type V 0 0 0 0 0 0 0 1 1
Gorlin syndrome 0 0 0 0 0 0 0 1 1
Hyperekplexia 1 0 0 0 0 0 0 0 1 1
Hypertrophic cardiomyopathy 12 0 0 0 0 0 0 0 1 1
Hypomyelination and Congenital Cataract 0 0 0 0 0 0 0 1 1
Leber congenital amaurosis 0 0 0 0 0 0 0 1 1
Malignant melanoma of skin 0 0 0 0 0 1 0 0 1
Methylmalonic aciduria, cblB type 0 0 0 1 0 0 0 0 1
Neuropathy, hereditary sensory and autonomic, type 1C 1 0 0 0 0 0 0 0 1
Noonan syndrome 1 0 0 0 0 0 0 0 1 1
Pfeiffer syndrome 1 0 0 0 0 0 0 0 1
Poikiloderma with neutropenia 0 0 0 0 0 0 0 1 1
Polydactyly, postaxial, type A6 0 1 0 0 0 0 0 0 1
Polyposis syndrome, hereditary mixed, 1 1 0 0 0 0 0 0 0 1
Schuurs-Hoeijmakers syndrome 0 1 0 0 0 0 0 0 1
Severe myoclonic epilepsy in infancy 1 0 0 0 0 0 0 0 1
X-linked mixed hearing loss with perilymphatic gusher 0 0 0 0 0 0 0 1 1

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