ClinVar Miner

List of variants in gene INSL6, JAK2 studied for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004972.4(JAK2):c.3188G>A (p.Arg1063His) rs41316003 0.00500
NM_004972.4(JAK2):c.1641+6T>C rs182123615 0.00109
NM_004972.4(JAK2):c.380G>A (p.Gly127Asp) rs56118985 0.00048
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_004972.4(JAK2):c.*1337T>C rs1057515601 0.00006
NM_004972.4(JAK2):c.*1288_*1289insGT rs1057515597
NM_004972.4(JAK2):c.*1291GT[19] rs139964957
NM_004972.4(JAK2):c.*1291GT[23] rs139964957
NM_004972.4(JAK2):c.*1388_*1392dup rs1038207109
NM_004972.4(JAK2):c.*91TAT[1] rs1057515594
NM_004972.4(JAK2):c.2762-10_2762-9del rs529050943

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.