ClinVar Miner

List of variants in gene combination ELP4, PAX6 reported as likely benign for abdominal and pelvic region disorder

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NM_019040.5(ELP4):c.*1302T>C rs146579778
NM_019040.5(ELP4):c.*1714C>G rs180780893
NM_019040.5(ELP4):c.*1783T>G rs140971065
NM_019040.5(ELP4):c.*1811A>C rs185968715
NM_019040.5(ELP4):c.*2040G>C rs183115097
NM_019040.5(ELP4):c.*2525C>A rs183433948
NM_019040.5(ELP4):c.*2664G>A rs567720234
NM_019040.5(ELP4):c.*2740G>A rs149777109
NM_019040.5(ELP4):c.*3092T>C rs371438311
NM_019040.5(ELP4):c.*3242G>A rs187705792
NM_019040.5(ELP4):c.*3383C>T rs541022955
NM_019040.5(ELP4):c.*3425C>T rs3026399
NM_019040.5(ELP4):c.*3433G>T rs192709453
NM_019040.5(ELP4):c.*3509A>G rs542906080
NM_019040.5(ELP4):c.*3713A>T rs138881442
NM_019040.5(ELP4):c.*3904G>A rs3026397
NM_019040.5(ELP4):c.*3994C>A rs79739975
NM_019040.5(ELP4):c.*4172A>C rs73477658
NM_019040.5(ELP4):c.*4251G>A rs3026396
NM_019040.5(ELP4):c.*4806T>A rs189545730
NM_019040.5(ELP4):c.*4932G>A rs181818313
NM_019040.5(ELP4):c.*5123T>A rs576321279
NM_019040.5(ELP4):c.*5569G>A rs530931929
NM_019040.5(ELP4):c.*5993G>A rs55756603

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.