ClinVar Miner

List of variants in gene ALPL studied for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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.818C>T (p.Thr273Met) rs148405563 0.00106
NM_000478.6(ALPL):c.1574del (p.Phe524_Ter525insTer) rs764994176 0.00035
NM_000478.6(ALPL):c.436G>A (p.Glu146Lys) rs138587317 0.00015
NM_000478.6(ALPL):c.529G>A (p.Ala177Thr) rs199669988 0.00004
NM_000478.6(ALPL):c.610A>G (p.Ile204Val) rs374558572 0.00003
NM_000478.6(ALPL):c.26C>T (p.Ala9Val) rs772679576 0.00002
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu) rs199590449 0.00001
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp) rs763159520 0.00001
NM_000478.6(ALPL):c.884T>C (p.Met295Thr) rs1220125702 0.00001
NM_000478.6(ALPL):c.962G>A (p.Arg321Gln) rs138679161 0.00001
NM_000478.6(ALPL):c.997+2T>A rs1057517391 0.00001
NM_000478.6(ALPL):c.1068C>G (p.Asp356Glu)
NM_000478.6(ALPL):c.1183A>T (p.Ile395Phe) rs772682471
NM_000478.6(ALPL):c.1340T>C (p.Val447Ala) rs1570309482
NM_000478.6(ALPL):c.25G>T (p.Ala9Ser)
NM_000478.6(ALPL):c.937G>C (p.Val313Leu)
NM_000478.6(ALPL):c.957C>G (p.Ile319Met) rs1310593535
NM_000478.6(ALPL):c.970C>G (p.Pro324Ala)
NM_000478.6(ALPL):c.976G>C (p.Gly326Arg) rs1644687066

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.