ClinVar Miner

List of variants in gene INPP5E reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 49
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_019892.6(INPP5E):c.844G>A (p.Gly282Arg) rs138068434 0.00018
NM_019892.6(INPP5E):c.1388C>T (p.Ala463Val) rs199956627 0.00006
NM_019892.6(INPP5E):c.1861C>T (p.Arg621Trp) rs142759730 0.00006
NM_019892.6(INPP5E):c.1754G>A (p.Arg585His) rs752300607 0.00005
NM_019892.6(INPP5E):c.746C>T (p.Ser249Phe) rs550485638 0.00005
NM_019892.6(INPP5E):c.1456C>T (p.Arg486Cys) rs75939033 0.00004
NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln) rs121918129 0.00003
NM_019892.6(INPP5E):c.1133G>A (p.Arg378His) rs758951947 0.00002
NM_019892.6(INPP5E):c.1402C>T (p.Arg468Cys) rs375909217 0.00002
NM_019892.6(INPP5E):c.1615G>A (p.Gly539Arg) rs375126841 0.00002
NM_019892.6(INPP5E):c.1753C>T (p.Arg585Cys) rs763992407 0.00002
NM_019892.6(INPP5E):c.1760del (p.Val587fs) rs775518991 0.00002
NM_019892.6(INPP5E):c.1052G>A (p.Arg351His) rs775094328 0.00001
NM_019892.6(INPP5E):c.1303C>T (p.Arg435Trp) rs756789619 0.00001
NM_019892.6(INPP5E):c.1543C>T (p.Arg515Trp) rs13297509 0.00001
NM_019892.6(INPP5E):c.1665G>A (p.Thr555=) rs774331779 0.00001
NM_019892.6(INPP5E):c.1669C>T (p.Arg557Cys) rs1024279229 0.00001
NM_019892.6(INPP5E):c.1670G>A (p.Arg557His) rs992814593 0.00001
NM_019892.6(INPP5E):c.1687C>T (p.Arg563Cys) rs371960390 0.00001
NM_019892.6(INPP5E):c.1787G>C (p.Arg596Thr) rs765327224 0.00001
NM_019892.6(INPP5E):c.1790C>T (p.Pro597Leu) rs760790290 0.00001
NM_019892.6(INPP5E):c.1862G>A (p.Arg621Gln) rs1588830568 0.00001
NM_019892.6(INPP5E):c.907G>A (p.Val303Met) rs746212325 0.00001
NM_019892.6(INPP5E):c.1024T>C (p.Cys342Arg) rs188488264
NM_019892.6(INPP5E):c.1073C>T (p.Pro358Leu) rs1835755632
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys) rs121918130
NM_019892.6(INPP5E):c.1156T>C (p.Ser386Pro)
NM_019892.6(INPP5E):c.1224del (p.Ile409fs) rs2131608743
NM_019892.6(INPP5E):c.1280-2A>C
NM_019892.6(INPP5E):c.1312G>A (p.Asp438Asn) rs1835733198
NM_019892.6(INPP5E):c.1361A>G (p.Asp454Gly) rs1057517749
NM_019892.6(INPP5E):c.1368C>A (p.Asn456Lys)
NM_019892.6(INPP5E):c.136G>T (p.Glu46Ter)
NM_019892.6(INPP5E):c.1442G>A (p.Arg481His)
NM_019892.6(INPP5E):c.1564G>C (p.Gly522Arg) rs2131605763
NM_019892.6(INPP5E):c.1608dup (p.Asp537Ter) rs2131605715
NM_019892.6(INPP5E):c.1740G>C (p.Lys580Asn)
NM_019892.6(INPP5E):c.1747G>T (p.Asp583Tyr) rs756888841
NM_019892.6(INPP5E):c.1757_1758del (p.Pro586fs)
NM_019892.6(INPP5E):c.1762T>C (p.Tyr588His)
NM_019892.6(INPP5E):c.1844_1846delinsGAA (p.Leu615_Leu616delinsTer)
NM_019892.6(INPP5E):c.1862G>T (p.Arg621Leu) rs1588830568
NM_019892.6(INPP5E):c.1897C>T (p.Gln633Ter) rs763184652
NM_019892.6(INPP5E):c.2_10del (p.Met1_Ser3del) rs2131620472
NM_019892.6(INPP5E):c.473del (p.Gly158fs) rs779450345
NM_019892.6(INPP5E):c.473dup (p.Gly158_Asn159insTer) rs779450345
NM_019892.6(INPP5E):c.874C>T (p.Arg292Cys)
NM_019892.6(INPP5E):c.943_965dup (p.Leu323fs) rs2131610473
NM_019892.6(INPP5E):c.[1787G>C;746C>T]

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.