List of variants in gene ALPL reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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: 41

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HGVS	dbSNP	gnomAD frequency
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)	rs121918007	0.00200
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.979T>C (p.Phe327Leu)	rs121918010	0.00004
NM_000478.6(ALPL):c.892G>A (p.Glu298Lys)	rs121918017	0.00003
NM_000478.6(ALPL):c.667C>T (p.Arg223Trp)	rs766076920	0.00002
NM_000478.6(ALPL):c.1133A>T (p.Asp378Val)	rs121918008	0.00001
NM_000478.6(ALPL):c.1183A>G (p.Ile395Val)	rs772682471	0.00001
NM_000478.6(ALPL):c.119C>T (p.Ala40Val)	rs770093969	0.00001
NM_000478.6(ALPL):c.1282C>T (p.Arg428Ter)	rs759017288	0.00001
NM_000478.6(ALPL):c.1471G>A (p.Gly491Arg)	rs1413274209	0.00001
NM_000478.6(ALPL):c.1559del (p.Leu520fs)	rs387906525	0.00001
NM_000478.6(ALPL):c.331G>A (p.Ala111Thr)	rs773257111	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.550C>T (p.Arg184Trp)	rs763159520	0.00001
NM_000478.6(ALPL):c.648+1G>A	rs749544042	0.00001
NM_000478.6(ALPL):c.809G>A (p.Trp270Ter)	rs786204634	0.00001
NM_000478.6(ALPL):c.814C>T (p.Arg272Cys)	rs121918020	0.00001
NM_000478.6(ALPL):c.920C>T (p.Pro307Leu)	rs768555495	0.00001
NM_000478.6(ALPL):c.997+2T>A	rs1057517391	0.00001
NC_000001.10:g.(21836011_21880470)_(21880636_21887118)del
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp)	rs121918009
NM_000478.6(ALPL):c.1132G>C (p.Asp378His)	rs1553414611
NM_000478.6(ALPL):c.1240C>A (p.Leu414Met)	rs2148192444
NM_000478.6(ALPL):c.1328C>T (p.Ala443Val)	rs768053120
NM_000478.6(ALPL):c.1361del (p.His454fs)
NM_000478.6(ALPL):c.1474del (p.Ala492fs)	rs1558558976
NM_000478.6(ALPL):c.18del (p.Val7fs)	rs1558543066
NM_000478.6(ALPL):c.203C>T (p.Thr68Met)	rs1644478533
NM_000478.6(ALPL):c.346G>A (p.Ala116Thr)	rs121918013
NM_000478.6(ALPL):c.406C>T (p.Arg136Cys)	rs747762186
NM_000478.6(ALPL):c.46_49del (p.Asn16fs)	rs1057516230
NM_000478.6(ALPL):c.512A>G (p.His171Arg)
NM_000478.6(ALPL):c.561C>A (p.Tyr187Ter)
NM_000478.6(ALPL):c.661G>C (p.Gly221Arg)	rs769020799
NM_000478.6(ALPL):c.662del (p.Gly221fs)	rs769948289
NM_000478.6(ALPL):c.738G>T (p.Arg246Ser)	rs1223142821
NM_000478.6(ALPL):c.746G>T (p.Gly249Val)	rs121918018
NM_000478.6(ALPL):c.896T>C (p.Leu299Pro)	rs2148184404
NM_000478.6(ALPL):c.978CTT[2] (p.Phe328del)	rs753338851

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