ClinVar Miner

List of variants in gene INPP5E reported as uncertain significance for Joubert syndrome 1

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP
NM_019892.6(INPP5E):c.*235A>G rs376604726
NM_019892.6(INPP5E):c.*630G>A rs539039743
NM_019892.6(INPP5E):c.*721C>T rs886063710
NM_019892.6(INPP5E):c.*727C>T rs886063709
NM_019892.6(INPP5E):c.*747T>C rs191248562
NM_019892.6(INPP5E):c.*763G>C rs564573606
NM_019892.6(INPP5E):c.*913T>C rs886063708
NM_019892.6(INPP5E):c.-174G>A rs544247720
NM_019892.6(INPP5E):c.-239C>G rs562519905
NM_019892.6(INPP5E):c.-271C>T rs886063714
NM_019892.6(INPP5E):c.-31G>C rs554931078
NM_019892.6(INPP5E):c.-343T>C rs886063715
NM_019892.6(INPP5E):c.-347G>A rs886063716
NM_019892.6(INPP5E):c.1034+3A>T rs1564433976
NM_019892.6(INPP5E):c.1104C>T (p.His368=) rs148592275
NM_019892.6(INPP5E):c.1136G>A (p.Arg379Lys) rs200518324
NM_019892.6(INPP5E):c.1191C>T (p.Ile397=) rs558778286
NM_019892.6(INPP5E):c.1279+14T>C rs886063711
NM_019892.6(INPP5E):c.1325C>T (p.Thr442Ile) rs201043370
NM_019892.6(INPP5E):c.1354G>A (p.Val452Met) rs1554793007
NM_019892.6(INPP5E):c.136G>A (p.Glu46Lys) rs886063713
NM_019892.6(INPP5E):c.1380C>T (p.Ser460=) rs145543466
NM_019892.6(INPP5E):c.1384G>A (p.Ala462Thr) rs200837258
NM_019892.6(INPP5E):c.1388-5C>T rs187956407
NM_019892.6(INPP5E):c.1407C>T (p.Phe469=) rs377483407
NM_019892.6(INPP5E):c.1506G>A (p.Pro502=) rs74880446
NM_019892.6(INPP5E):c.1550-14C>T rs181576122
NM_019892.6(INPP5E):c.1565G>C (p.Gly522Ala) rs771866500
NM_019892.6(INPP5E):c.1743G>A (p.Thr581=) rs368026621
NM_019892.6(INPP5E):c.1763A>G (p.Tyr588Cys) rs1564431175
NM_019892.6(INPP5E):c.1791G>C (p.Pro597=) rs10870182
NM_019892.6(INPP5E):c.1846C>A (p.Leu616Ile) rs1564430711
NM_019892.6(INPP5E):c.1919T>C (p.Ile640Thr) rs753001340
NM_019892.6(INPP5E):c.197G>A (p.Arg66Gln)
NM_019892.6(INPP5E):c.21T>C (p.Asn7=) rs571588033
NM_019892.6(INPP5E):c.547C>T (p.Pro183Ser) rs754964359
NM_019892.6(INPP5E):c.554T>A (p.Leu185Gln) rs372412898
NM_019892.6(INPP5E):c.812+3AGGG[3] rs5901103
NM_019892.6(INPP5E):c.813-8C>T rs373176644
NM_019892.6(INPP5E):c.944C>T (p.Pro315Leu) rs754637179

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.