List of variants in gene INPP5E reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_019892.6(INPP5E):c.791G>A (p.Arg264His)	rs202197173	0.00415
NM_019892.6(INPP5E):c.1730C>G (p.Pro577Arg)	rs147967974	0.00405
NM_019892.6(INPP5E):c.1299G>A (p.Ala433=)	rs56931633	0.00272
NM_019892.6(INPP5E):c.1506G>A (p.Pro502=)	rs74880446	0.00100
NM_019892.6(INPP5E):c.1623C>T (p.Asp541=)	rs77248046	0.00068
NM_019892.6(INPP5E):c.469G>T (p.Gly157Trp)	rs78211353	0.00057
NM_019892.6(INPP5E):c.1191C>T (p.Ile397=)	rs558778286	0.00029
NM_019892.6(INPP5E):c.906C>T (p.Phe302=)	rs140222295	0.00006
NM_019892.6(INPP5E):c.1665G>A (p.Thr555=)	rs774331779	0.00001
NM_019892.6(INPP5E):c.957C>T (p.Asp319=)	rs1032007993	0.00001
NM_019892.6(INPP5E):c.1791G>C (p.Pro597=)	rs10870182
NM_019892.6(INPP5E):c.1837C>T (p.Leu613=)

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.