ClinVar Miner

Variants from Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

Location: India  Primary collection method: research
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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 association association not found drug response likely risk allele uncertain risk allele total
71 144 922 306 685 9 1 2 187 281 2588

Gene and significance breakdown #

Total genes and gene combinations: 58
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association association not found drug response likely risk allele uncertain risk allele total
ABCC8 0 0 457 0 16 1 0 0 0 0 464
WFS1 13 17 48 56 234 0 0 0 27 63 458
GCK 14 48 19 17 80 0 0 0 49 53 280
HNF1A 28 41 24 24 70 0 0 0 31 25 240
HNF4A 2 9 38 31 114 0 0 0 14 22 230
KCNJ11 0 2 168 3 19 1 1 2 8 1 201
HNF1B 13 12 23 44 23 0 0 0 19 17 151
TGFBR2 1 0 0 48 0 0 0 0 4 43 96
HADH 0 8 4 23 12 0 0 0 7 13 67
INS, INS-IGF2 0 2 21 4 14 0 0 0 13 4 58
ALMS1 0 0 24 5 10 0 0 0 1 8 48
C12orf43, HNF1A 0 1 2 2 23 1 0 0 0 1 30
INSR 0 0 4 18 1 0 0 0 0 3 26
BLK 0 0 1 2 16 1 0 0 2 0 22
GLIS3 0 0 4 2 10 0 0 0 0 2 18
HNF1B, LOC126862549 0 2 3 4 2 0 0 0 2 2 15
LMNA 0 0 4 3 2 0 0 0 3 3 15
DCAF17 0 0 2 1 9 0 0 0 0 0 12
ABCC8, LOC110121471 0 0 11 0 3 0 0 0 0 0 11
DRD4 0 0 11 0 0 0 0 0 0 0 11
PDX1 0 0 5 1 1 0 0 0 0 4 11
HADH, LOC129992931 0 0 0 6 2 0 0 0 0 2 10
LOC129992166, WFS1 0 0 0 2 8 0 0 0 0 0 10
BSCL2, HNRNPUL2-BSCL2 0 0 2 0 0 0 0 0 0 5 7
FOXP3 0 0 1 1 1 0 0 0 3 1 7
ABCC8, KCNJ11 0 0 5 0 1 0 0 0 0 0 6
GATA6 0 0 2 0 1 0 0 0 0 3 6
IL36RN 0 0 6 0 0 0 0 0 0 0 6
INS, INS-IGF2, TH 0 0 3 1 1 1 0 0 0 0 6
AGPAT2 0 0 2 0 0 0 0 0 1 2 5
LOC129936399, TGFBR2 0 0 0 3 0 0 0 0 0 2 5
BAIAP2 0 0 4 0 0 0 0 0 0 0 4
INS 0 0 1 2 1 0 0 0 0 0 4
AKT2 0 0 2 1 0 0 0 0 0 0 3
AVP 0 0 1 0 0 0 0 0 0 2 3
CARD14 0 0 2 0 0 1 0 0 0 0 3
CARD14, SGSH 0 0 3 0 0 0 0 0 0 0 3
ENPP1 0 0 2 0 1 0 0 0 0 0 3
INS, TH 0 0 1 0 2 0 0 0 0 0 3
PAX4 0 0 2 0 1 0 0 0 0 0 3
SLC2A2 0 0 1 0 2 0 0 0 0 0 3
ALMS1, LOC126806252 0 0 1 0 0 0 0 0 1 0 2
BLK, LOC126860303 0 0 0 0 2 0 0 0 0 0 2
CARD14, LOC126862662, SGSH 0 1 0 0 0 1 0 0 0 0 2
DRD5, SLC2A9 0 0 2 0 0 0 0 0 0 0 2
GATA4 0 0 1 1 0 0 0 0 0 0 2
PTF1A 0 0 2 0 0 0 0 0 0 0 2
ZFP57 0 0 1 0 1 0 0 0 0 0 2
ACADS 0 0 0 0 0 0 0 0 1 0 1
CEL 0 0 0 0 1 0 0 0 0 0 1
HNF4A, R3HDML 0 0 0 0 1 0 0 0 0 0 1
KLF11 0 0 0 0 0 0 0 0 1 0 1
LMNA, LOC126805877 0 0 0 1 0 0 0 0 0 0 1
NEUROD1 0 0 1 0 0 0 0 0 0 0 1
PAX6 0 0 1 0 0 0 0 0 0 0 1
PCSK9 0 0 0 0 0 1 0 0 0 0 1
SLC29A3 0 0 0 0 0 1 0 0 0 0 1
TP53 0 1 0 0 0 0 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 55
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association association not found drug response likely risk allele uncertain risk allele total
Maturity onset diabetes mellitus in young 56 111 712 123 327 0 0 0 114 120 1563
Transitory neonatal diabetes mellitus 0 1 464 3 18 0 0 0 1 1 488
Wolfram syndrome 1 13 17 47 58 239 0 0 0 27 63 464
Diabetic retinopathy 1 0 0 51 0 0 0 0 4 45 101
Hyperinsulinemic hypoglycemia 0 7 4 24 14 0 0 0 5 15 69
Alstrom syndrome 0 0 25 5 10 0 0 0 2 8 50
Type 2 diabetes mellitus 0 2 18 2 16 2 1 0 6 0 47
Neonatal insulin-dependent diabetes mellitus 0 2 6 5 18 0 0 0 3 2 36
Hyperinsulinism due to INSR deficiency 0 0 3 18 1 0 0 0 0 3 25
Systemic lupus erythematosus 0 0 1 2 18 1 0 0 2 0 24
Diabetes mellitus, permanent neonatal 4 0 0 12 2 0 0 0 0 7 0 21
Hereditary attention deficit-hyperactivity disorder 0 0 12 0 0 0 0 0 0 0 12
Woodhouse-Sakati syndrome 0 0 2 1 9 0 0 0 0 0 12
Hyperinsulinemia 0 0 10 0 0 0 0 0 0 1 11
Pancreatic hypoplasia 0 0 5 1 1 0 0 0 0 4 11
Dilated cardiomyopathy 1A 0 0 1 3 0 0 0 0 2 2 8
Hyperinsulinemic hypoglycemia, familial, 4 0 1 0 4 1 0 0 0 2 0 8
Pityriasis rubra pilaris 0 1 5 0 0 2 0 0 0 0 8
Congenital generalized lipodystrophy type 2 0 0 2 0 0 0 0 0 0 5 7
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 0 0 1 1 1 0 0 0 3 1 7
Maturity-onset diabetes of the young type 10 0 0 4 0 0 0 0 0 1 2 7
Neonatal hypoglycemia 0 0 3 0 4 0 0 0 0 0 7
Primary dilated cardiomyopathy 0 0 3 0 2 0 0 0 1 1 7
Acrodermatitis continua suppurativa of Hallopeau 0 0 6 0 0 0 0 0 0 0 6
Diabetes mellitus 1 0 0 0 5 0 0 0 0 0 6
Congenital generalized lipodystrophy type 1 0 0 2 0 0 0 0 0 1 2 5
Neonatal diabetes mellitus with congenital hypothyroidism 0 0 4 0 0 0 0 0 0 1 5
Attention deficit hyperactivity disorder 0 0 4 0 0 0 0 0 0 0 4
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome 0 0 1 0 0 0 0 0 0 3 4
Diabetes mellitus type 1 0 0 2 0 0 0 0 0 1 0 3
Hyperproinsulinemia 0 0 3 0 0 0 0 0 0 0 3
Maturity-onset diabetes of the young type 13 0 0 1 2 0 0 0 0 0 0 3
Neurohypophyseal diabetes insipidus 0 0 1 0 0 0 0 0 0 2 3
Diabetes mellitus, transient neonatal, 2 0 0 2 0 0 0 0 0 0 0 2
Hypoglycemia 0 0 0 0 0 0 0 0 2 0 2
Hypoinsulinemia 0 0 1 0 0 1 0 0 0 0 2
Maturity-onset diabetes of the young type 3 0 1 0 0 0 0 0 0 1 0 2
Abnormality of refraction 0 0 1 0 0 0 0 0 0 0 1
Acanthosis nigricans 0 0 0 0 0 1 0 0 0 0 1
Cerebral edema 0 0 1 0 0 0 0 0 0 0 1
Deficiency of butyryl-CoA dehydrogenase 0 0 0 0 0 0 0 0 1 0 1
Familial hypercholesterolemia 0 0 0 0 0 1 0 0 0 0 1
Gastric cancer 0 1 0 0 0 0 0 0 0 0 1
Generalized dystonia 0 0 1 0 0 0 0 0 0 0 1
Gestational diabetes 0 0 0 0 0 1 0 0 0 0 1
Glibenclamide response 0 0 0 0 0 0 0 1 0 0 1
Glycosuria 0 0 0 0 1 0 0 0 0 0 1
Hyperinsulinemic hypoglycemia, familial, 1 0 0 0 1 0 0 0 0 0 0 1
Insulin-resistant diabetes mellitus 0 0 1 0 0 0 0 0 0 0 1
Maturity-onset diabetes of the young type 2 0 0 0 0 0 0 0 0 1 0 1
Pancreatic beta cell agenesis with neonatal diabetes mellitus 0 0 1 0 0 0 0 0 0 0 1
Schizophrenia; Hereditary attention deficit-hyperactivity disorder 0 0 1 0 0 0 0 0 0 0 1
Sensorineural hearing loss disorder 0 0 0 0 1 0 0 0 0 0 1
Type 1 diabetes mellitus 2 0 0 0 0 0 0 0 0 1 0 1
sulfonylureas response 0 0 0 0 0 0 0 1 0 0 1

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