List of variants reported as pathogenic for Hypophosphatasia by JKU Lab, Dept of Paediatrics, Johannes Kepler University

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000478.6(ALPL):c.1402G>A (p.Ala468Thr)	rs1196976671	0.00001
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp)	rs763159520	0.00001
NM_000478.6(ALPL):c.1023T>A (p.His341Gln)	rs1280398041
NM_000478.6(ALPL):c.1098CTC[1] (p.Ser368del)	rs1558557341
NM_000478.6(ALPL):c.1532_1533insC (p.Leu512fs)
NM_000478.6(ALPL):c.364_365del (p.Lys122fs)
NM_000478.6(ALPL):c.412del (p.Arg138fs)	rs1312528958
NM_000478.6(ALPL):c.412dup (p.Arg138fs)
NM_000478.6(ALPL):c.558G>A (p.Trp186Ter)	rs2148161624
NM_000478.6(ALPL):c.649_650insC (p.Val217fs)
NM_000478.6(ALPL):c.659G>C (p.Gly220Ala)	rs1644592603
NM_000478.6(ALPL):c.768G>A (p.Trp256Ter)
NM_000478.6(ALPL):c.814del (p.Arg272fs)

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.