ClinVar Miner

Variants reported as affects

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Total variants: 239
Total variants unanimously reported as affects: 145

Breakdown by submitter #

Total submitters: 13
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Submitter Variants
OMIM 163
National Institute of Sensory Organs,National Hospital Organization Tokyo Medical Center 41
Pediatrics,All India Institute of Medical Sciences, New Delhi 13
Australian Red Cross Blood Service 8
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 3
Yunnan Provincial Key Laboratory of Clinical Virology, Institution of Basic and Clinical Medicine of Yunnan Province,The First People's Hospital of Yunnan Province 3
Children’s Center Hospital,Tehran University of Medical Sciences 2
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1
Cancer Genomics Laboratory, Texas Children's Hospital 1
Department of Pediatric Endocrinology, Cukurova University Medical Faculty 1
Institute of Reproductive and Child Health,Peking University 1
Laboratory of Clinical and Experimental Pathology,Xuzhou Medical University 1
Centro Nacional de Biotecnologia,Consejo Superior de Investigaciones Cientificas 1

Breakdown by condition #

Total conditions: 81
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Condition Variants
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 41
Mucopolysaccharidosis, MPS-II 13
Premature chromatid separation trait 11
p phenotype 11
Primary familial polycythemia due to EPO receptor mutation 9
Langereis blood group 8
Blood group, Dombrock system 5
Fleck retina, familial benign 5
Gilbert syndrome 5
John Milton Hagen blood group system 5
ABO blood group system 4
Blood group, Junior system 4
Chitotriosidase deficiency 4
Histidinemia 4
Lactate dehydrogenase B deficiency 4
Maleylacetoacetate isomerase deficiency 4
Proteinuria, chronic benign 4
Sarcosine dehydrogenase deficiency 4
Skin/hair/eye pigmentation, variation in, 1 4
Anhaptoglobinemia 3
Blood group, Gerbich system 3
Cromer blood group system 3
Eosinophil peroxidase deficiency 3
High molecular weight kininogen deficiency 3
Uridine-cytidineuria 3
Alpha-fetoprotein, hereditary persistence of 2
BLOOD GROUP--LUTHERAN INHIBITOR 2
Bombay phenotype 2
C3HEX, ability to smell 2
Dystransthyretinemic euthyroidal hyperthyroxinemia 2
Eculizumab, poor response to 2
Epilepsy, progressive myoclonic 3 2
Essential pentosuria 2
Fructosuria, essential 2
Hereditary spastic paraplegia 2
Increased analgesia from kappa-opioid receptor agonist, female-specific 2
Inosine triphosphatase deficiency 2
Landsteiner-Wiener phenotype 2
Sedoheptulokinase deficiency 2
Short sleep, familial natural, 1 2
Skin/hair/eye pigmentation, variation in, 7 2
ACTN3 deficiency 1
ALDH9A1*2 POLYMORPHISM 1
Antigen in Scianna blood group system 1
Apocrine gland secretion, variation in 1
BETA-GLUCOPYRANOSIDE TASTING 1
BLOOD GROUP, MN 1
BLOOD GROUP--FROESE 1
BLOOD GROUP--OK 1
BLOOD GROUP--WALDNER TYPE 1
BLOOD GROUP--WRIGHT ANTIGEN 1
Beta-aminoisobutyric aciduria 1
Blood group antigen abnormality 1
Bone mineral density quantitative trait locus 1 1
Cerebellar medulloblastoma 1
Charlevoix-Saguenay spastic ataxia 1
Erythrocyte AMP deaminase deficiency 1
Fucosyltransferase 6 deficiency 1
GIL BLOOD GROUP 1
GNE myopathy 1
Glycerol release during exercise, defective 1
Hemoglobin, high altitude adaptation 1
Hypogonadotrophic hypogonadism 1
Ige responsiveness, atopic 1
Impdh2 enzyme activity, variation in 1
Ischemic stroke, susceptibility to 1
Kallikrein, decreased urinary activity of 1
Limb-girdle muscular dystrophy, type 2L; Miyoshi muscular dystrophy 3 1
Neural tube defect 1
Protein Z deficiency 1
Radin blood group 1
Rheumatoid arthritis 1
SHORT SLEEP, FAMILIAL NATURAL, 2 1
Skin/hair/eye pigmentation, variation in, 11 1
Skin/hair/eye pigmentation, variation in, 8 1
Spastic paraplegia 11, autosomal recessive 1
Susceptibility to malaria 1
Type 2 diabetes mellitus 1
Vel blood group system 1
Weakened expression of D antigen 1
not provided 1

Breakdown by gene #

Total genes and gene combinations: 87
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Gene Variants
SLC26A4 41
BUB1B 9
ABCB6 8
A4GALT 7
EPOR 7
IDS, LOC106050102 7
IDS 6
ART4 5
PLA2G5 5
SEMA7A 5
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 5
ABCG2 4
ABO 4
B3GALNT1 4
CHIT1 4
CUBN 4
GSTZ1 4
HAL 4
LDHB 4
SARDH 4
CD55 3
EPX 3
GYPC 3
KNG1 3
OCA2 3
SLC28A1 3
SLC4A1 3
BHLHE41, SSPN 2
BUB1B, BUB1B-PAK6 2
C5 2
DCXR 2
ERMAP 2
FUT1 2
HP 2
ICAM4 2
ITPA 2
KCTD7 2
KHK 2
KITLG 2
MC1R 2
OR2J3 2
RHD, RSRP1 2
SHPK 2
TTR 2
ABCC11 1
ACTN3 1
ADAM28, LOC101929294 1
ADRB1 1
AFP 1
AFP, LOC111832670 1
AGXT2 1
ALDH9A1 1
AMPD3 1
ANO5 1
AQP3 1
AQP7 1
ARSG, PRKAR1A, WIPI1 1
BSG 1
CISH, MAPKAPK3 1
EGLN1 1
FUT6 1
GNE 1
GRN 1
GYPA 1
HAVCR1 1
HERC2 1
HP, TXNL4B 1
IMPDH2 1
INSL6, JAK2 1
IRF4 1
KEL 1
KLF1 1
KLF1, LOC117125591 1
KLK1 1
LRP5 1
MSH6 1
PROZ 1
SACS 1
SEMA3F 1
SH2B3 1
SLC2A2 1
SMIM1 1
SOCS1 1
SPG11 1
TAS2R16 1
TUBB 1
TYRP1 1

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