List of variants in gene ALPL reported as uncertain significance 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: 36

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HGVS	dbSNP	gnomAD frequency
NM_000478.6(ALPL):c.1574del (p.Phe524_Ter525insTer)	rs764994176	0.00035
NM_000478.6(ALPL):c.649-11G>C	rs376565308	0.00005
NM_000478.6(ALPL):c.529G>A (p.Ala177Thr)	rs199669988	0.00004
NM_000478.6(ALPL):c.1540G>A (p.Ala514Thr)	rs367657406	0.00003
NM_000478.6(ALPL):c.109C>T (p.Leu37=)	rs1205971311	0.00001
NM_000478.6(ALPL):c.1172G>A (p.Arg391His)	rs1442918125	0.00001
NM_000478.6(ALPL):c.1349G>A (p.Arg450His)	rs150799088	0.00001
NM_000478.6(ALPL):c.1375G>A (p.Val459Met)	rs1054159992	0.00001
NM_000478.6(ALPL):c.629A>G (p.His210Arg)	rs748031071	0.00001
NM_000478.6(ALPL):c.1010A>G (p.Asp337Gly)	rs1219494274
NM_000478.6(ALPL):c.1042G>A (p.Ala348Thr)	rs1553414563
NM_000478.6(ALPL):c.1062G>C (p.Glu354Asp)	rs1553414568
NM_000478.6(ALPL):c.1132G>C (p.Asp378His)	rs1553414611
NM_000478.6(ALPL):c.1181_1186del (p.Ser394_Ile395del)	rs1553414630
NM_000478.6(ALPL):c.1285G>A (p.Glu429Lys)	rs1553414868
NM_000478.6(ALPL):c.1333T>C (p.Ser445Pro)	rs1553415041
NM_000478.6(ALPL):c.1375G>T (p.Val459Leu)	rs1054159992
NM_000478.6(ALPL):c.1460C>T (p.Ala487Val)	rs1229517379
NM_000478.6(ALPL):c.1575A>G (p.Ter525Trp)	rs1553415176
NM_000478.6(ALPL):c.162CAT[1] (p.Ile55del)	rs766831104
NM_000478.6(ALPL):c.262G>A (p.Glu88Lys)	rs1045735640
NM_000478.6(ALPL):c.318G>C (p.Gln106His)	rs1553412268
NM_000478.6(ALPL):c.334G>A (p.Gly112Ser)	rs1384701659
NM_000478.6(ALPL):c.368C>A (p.Ala123Asp)	rs1188506084
NM_000478.6(ALPL):c.407G>C (p.Arg136Pro)	rs121918011
NM_000478.6(ALPL):c.422C>A (p.Thr141Asn)	rs916300043
NM_000478.6(ALPL):c.485G>T (p.Gly162Val)	rs121918012
NM_000478.6(ALPL):c.497C>T (p.Thr166Ile)	rs1176474582
NM_000478.6(ALPL):c.61G>A (p.Glu21Lys)	rs1553410728
NM_000478.6(ALPL):c.650delinsCTAA (p.Val217delinsAlaLys)	rs1553413155
NM_000478.6(ALPL):c.658G>A (p.Gly220Arg)	rs747488546
NM_000478.6(ALPL):c.661G>C (p.Gly221Arg)	rs769020799
NM_000478.6(ALPL):c.670A>G (p.Lys224Glu)	rs1226800998
NM_000478.6(ALPL):c.746G>T (p.Gly249Val)	rs121918018
NM_000478.6(ALPL):c.880G>T (p.Asp294Tyr)	rs1553414079
NM_000478.6(ALPL):c.997+3A>G	rs1553414147

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