ClinVar Miner

List of variants reported as likely benign for Hypophosphatasia

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000478.6(ALPL):c.1482C>T (p.Leu494=) rs142545037 0.00102
NM_000478.6(ALPL):c.*337A>G rs538549134 0.00098
NM_000478.6(ALPL):c.612C>T (p.Ile204=) rs141448778 0.00067
NM_000478.6(ALPL):c.468C>T (p.Asp156=) rs143621566 0.00052
NM_000478.6(ALPL):c.1002C>T (p.Gly334=) rs370122334 0.00026
NM_000478.6(ALPL):c.413G>A (p.Arg138Gln) rs140167865 0.00017
NM_000478.6(ALPL):c.62-29G>A rs200054024 0.00015
NM_000478.6(ALPL):c.1014C>T (p.His338=) rs147688908 0.00011
NM_000478.6(ALPL):c.1245T>C (p.Tyr415=) rs747539132 0.00007
NM_000478.6(ALPL):c.1506G>A (p.Ser502=) rs751195005 0.00006
NM_000478.6(ALPL):c.961C>T (p.Arg321Trp) rs200133602 0.00006
NM_000478.6(ALPL):c.398C>G (p.Ala133Gly) rs184095519 0.00004
NM_000478.6(ALPL):c.648C>T (p.Asp216=) rs201739155 0.00004
NM_000478.6(ALPL):c.1425C>T (p.His475=) rs183381346 0.00003
NM_000478.6(ALPL):c.528C>T (p.Ala176=) rs758330265 0.00003
NM_000478.6(ALPL):c.1470C>T (p.Ile490=) rs771120248 0.00002
NM_000478.6(ALPL):c.*14G>A rs571140206 0.00001
NM_000478.6(ALPL):c.*124del rs140511985
NM_000478.6(ALPL):c.*694dup rs200291738
NM_000478.6(ALPL):c.1290T>C (p.Asn430=) rs200330153
NM_000478.6(ALPL):c.1542G>A (p.Ala514=) rs3200256
NM_000478.6(ALPL):c.1557C>A (p.Pro519=) rs376020180
NM_000478.6(ALPL):c.369C>A (p.Ala123=) rs201342272
NM_000478.6(ALPL):c.472+12del rs35423948
NM_000478.6(ALPL):c.831C>T (p.Thr277=) rs1458491740

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.