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:
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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 affects protective not provided total
40 21 111 1 1 1 6 1009 1190

Gene and significance breakdown #

Total genes and gene combinations: 101
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects protective 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 35 0 0 0 0 1 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
ATP7B 0 0 0 0 0 0 0 7 7
CFTR, LOC113664106 0 0 0 0 0 0 0 7 7
​intergenic 5 0 0 0 0 0 0 1 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 0 4 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
BEST1 0 0 0 0 0 0 0 3 3
MECP2 1 0 0 0 0 0 0 2 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 1 0 0 0 0 0 0 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
PTCH1 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
AHCY, ASIP, ITCH, LOC130065711, LOC130065712, LOC130065713, LOC130065714, LOC130065715, LOC130065716, LOC130065717, LOC130065718, LOC130065719, LOC130065720, LOC130065721 1 0 0 0 0 0 0 0 1
APC 0 0 0 0 0 0 0 1 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
BTRC, DPCD, FBXW4, FGF8, NPM3, OGA, POLL 1 0 0 0 0 0 0 0 1
BTRC, DPCD, FBXW4, FGF8, NPM3, POLL 1 0 0 0 0 0 0 0 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
CNRIP1, LOC101927723, LOC115945159, LOC122757962, LOC129933976, LOC129933977, LOC129933978, LOC129933979, LOC129933980, LOC129933981, LOC129933982, LOC129933983, LOC129933984, LOC129933985, LOC129933986, LOC129933987, LOC129933988, LOC129933989, LOC129933990, LOC129933991, LOC132088853, LOC132088854, PLEK, PPP3R1 1 0 0 0 0 0 0 0 1
COL5A1 0 0 0 0 0 0 0 1 1
COL7A1 0 0 0 0 0 0 0 1 1
CRNDE, IRX5, IRX6, LOC101927480, LOC110120574, LOC110120575, LOC110120576, LOC110120835, LOC125177315, LOC126862355, LOC126862356, LOC126862357, LOC130059036, LOC130059037, LOC130059038, LOC130059039, LPCAT2, MMP2 1 0 0 0 0 0 0 0 1
CRNDE, IRX5, IRX6, LOC110120574, LOC110120575, LOC110120576, LOC110120835, LOC125177315, LOC126862355, LOC126862356, LOC126862357, LOC130059036, LOC130059037, LOC130059038, LOC130059039, MMP2 1 0 0 0 0 0 0 0 1
CRYGC, LOC100507443 1 0 0 0 0 0 0 0 1
CSRP3 0 0 0 0 0 0 0 1 1
DYNC1H1 0 0 0 0 0 0 0 1 1
F7 0 0 0 0 0 0 0 1 1
FAAH, LOC129930482 0 0 0 0 0 1 0 0 1
FAM111A, LOC130005740 0 1 0 0 0 0 0 0 1
FGFR2 1 0 0 0 0 0 0 0 1
FOXJ1 0 0 0 0 0 0 0 1 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
GJB2 0 0 0 0 0 0 0 1 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
IRF2BP2, LOC129932812 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
LMO1 0 0 0 0 0 0 1 0 1
LOC108281177, SOX2, SOX2-OT 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
MT-ND3 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
POFUT1 1 0 0 0 0 0 0 0 1
POU3F4 0 0 0 0 0 0 0 1 1
PSEN1 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 0 1 0 1
SPAST 0 0 0 0 0 0 0 1 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: 83
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects protective not provided total
Familial cancer of breast 1 0 0 0 0 0 0 444 445
Cystic fibrosis 0 0 0 0 0 0 0 440 440
Deficiency of alpha-mannosidase 0 0 40 0 0 0 0 1 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 7 7
Lung carcinoma 0 0 5 0 0 0 0 0 5
Coronary heart disease 0 0 0 0 0 0 4 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
Chromosome 16q12 duplication syndrome 3 0 0 0 0 0 0 0 3
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 bestrophinopathy 0 0 0 0 0 0 0 2 2
Autosomal recessive nonsyndromic hearing loss 84A 0 0 0 0 0 0 0 2 2
Hearing loss, autosomal recessive 118, with cochlear aplasia 2 0 0 0 0 0 0 0 2
Hereditary spherocytosis type 5 0 0 2 0 0 0 0 0 2
Hypoplastic femurs and pelvis 2 0 0 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
Autosomal dominant nonsyndromic hearing loss 3A 0 0 0 0 0 0 0 1 1
Autosomal dominant nonsyndromic hearing loss 58 1 0 0 0 0 0 0 0 1
Basal cell nevus syndrome 1 0 0 0 0 0 0 0 1 1
Cataract - microcornea syndrome 0 0 0 0 0 0 0 1 1
Cataract 2, multiple types 1 0 0 0 0 0 0 0 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
Ciliary dyskinesia, primary, 43 0 0 0 0 0 0 0 1 1
Congenital factor VII deficiency 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
Dowling-Degos disease 2 1 0 0 0 0 0 0 0 1
ENDOVE syndrome, limb-only type 1 0 0 0 0 0 0 0 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
Familial median cleft of the upper and lower lips 1 0 0 0 0 0 0 0 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
Global developmental delay; Generalized hypotonia; Metatarsus adductus 1 0 0 0 0 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
Hereditary spastic paraplegia 4 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
Inborn error of immunity 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 0 1 0 1
Malignant tumor of pancreas 0 0 0 0 0 0 0 1 1
Methylmalonic aciduria, cblB type 0 0 0 1 0 0 0 0 1
Monocytopenia with susceptibility to infections 0 0 0 0 0 0 0 1 1
Neuroblastoma, susceptibility to, 7 0 0 0 0 0 0 1 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
Obesity and hypopigmentation 1 0 0 0 0 0 0 0 1
PAIN SENSITIVITY QUANTITATIVE TRAIT LOCUS 1 0 0 0 0 0 1 0 0 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
Vitelliform macular dystrophy 2 0 0 0 0 0 0 0 1 1
X-linked mixed hearing loss with perilymphatic gusher 0 0 0 0 0 0 0 1 1
sensorimotor axonal polyneuropathy 0 0 0 0 0 0 0 1 1

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