List of variants in gene ALPL reported as pathogenic for Infantile hypophosphatasia

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

Total variants: 25

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)	rs121918007	0.00200
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr)	rs121918019	0.00016
NM_000478.6(ALPL):c.881A>C (p.Asp294Ala)	rs121918002	0.00007
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser)	rs121918014	0.00006
NM_000478.6(ALPL):c.407G>A (p.Arg136His)	rs121918011	0.00006
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu)	rs121918010	0.00004
NM_000478.6(ALPL):c.892G>A (p.Glu298Lys)	rs121918017	0.00003
NM_000478.6(ALPL):c.1133A>T (p.Asp378Val)	rs121918008	0.00001
NM_000478.6(ALPL):c.1559del (p.Leu520fs)	rs387906525	0.00001
NM_000478.6(ALPL):c.535G>A (p.Ala179Thr)	rs121918000	0.00001
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu)	rs199590449	0.00001
NM_000478.6(ALPL):c.648+1G>A	rs749544042	0.00001
NM_000478.6(ALPL):c.814C>T (p.Arg272Cys)	rs121918020	0.00001
NM_000478.6(ALPL):c.98C>T (p.Ala33Val)	rs121918005	0.00001
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp)	rs121918009
NM_000478.6(ALPL):c.1098CTC[1] (p.Ser368del)	rs1558557341
NM_000478.6(ALPL):c.1306T>C (p.Tyr436His)	rs121918006
NM_000478.6(ALPL):c.1328C>T (p.Ala443Val)	rs768053120
NM_000478.6(ALPL):c.1366G>A (p.Gly456Arg)	rs121918016
NM_000478.6(ALPL):c.1426G>A (p.Glu476Lys)	rs1057517173
NM_000478.6(ALPL):c.18del (p.Val7fs)	rs1558543066
NM_000478.6(ALPL):c.211C>T (p.Arg71Cys)	rs121918001
NM_000478.6(ALPL):c.212G>C (p.Arg71Pro)	rs121918003
NM_000478.6(ALPL):c.620A>C (p.Gln207Pro)	rs121918004
NM_000478.6(ALPL):c.997+2T>G	rs1057517391

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.