SLC29A3 (NM_018344.5) sequence variants
(ENT3, HJCD, PHID, HCLAP)

Editor(s): Guilaine BOURSIER   

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Total current number of sequence variants for SLC29A3 : 30

* If you have new data: please send us a re-evaluation proposal here

HGVS sequence name
HGVS protein name
Classification *
Status *
Simple variant
Complex alleles
exon 2c.42delp.(Ser15Profs*86)Likely pathogenicTo be validated
 2019-01-22
exon 2c.243delp.(Lys81Asnfs*20)PathogenicTo be validated
 2019-01-22
intron 2c.300+1G>Cp.Asn101Leufs*34Not classifiedTo be validated
 2014-07-24
intron 2c.300+1G>Ap.?Likely pathogenicTo be validated
 2019-01-22
intron 2c.300+2T>Gp.?Likely pathogenicTo be validated
 2019-01-22
exon 3c.303_319dupp.(Leu107Profs*39)Likely pathogenicTo be validated
 2019-01-22
exon 3c.308_309delp.(Phe103*)Likely pathogenicTo be validated
 2019-01-22
exon 3c.347T>Gp.(Met116Arg)Likely pathogenicTo be validated
 2019-01-22
exon 4c.400C>Tp.(Arg134Cys)Likely pathogenicTo be validated
 2019-01-22
exon 4c.401G>Ap.(Arg134His)Likely pathogenicTo be validated
 2019-01-22
exon 4c.607T>Cp.(Ser203Pro)Likely pathogenicTo be validated
 2019-01-22
intron 4c.610+1G>Cp.?Likely pathogenicTo be validated
 2019-01-22
exon 5c.625G>Ap.(Gly209Arg)Likely pathogenicTo be validated
 2019-01-22
intron 5c.774-2A>Gp.?Likely pathogenicTo be validated
 2019-01-21
exon 6c.933T>Ap.(Cys311*)Likely pathogenicTo be validated
 2019-01-22
exon 6c.940delp.(Tyr314Thrfs*91)Likely pathogenicTo be validated
 2019-01-22
exon 6c.946T>Gp.Phe316ValNot classifiedTo be validated
 2015-12-04
exon 6c.971C>Tp.(Pro324Leu)Likely pathogenicTo be validated
 2019-01-22
exon 6c.1045delp.(Leu349Serfs*56)Likely pathogenicTo be validated
 2019-01-22
exon 6c.1087C>Tp.(Arg363Trp)Likely pathogenicTo be validated
 2019-01-22
exon 6c.1088G>Ap.Arg363GlnNot classifiedTo be validated
 2014-07-24
exon 6c.1157G>Ap.(Arg386Gln)Likely pathogenicTo be validated
 2019-01-22
exon 6c.1172C>Ap.(Pro391His)Likely pathogenicTo be validated
 2019-01-22
exon 6c.1269_1270delinsTp.Leu424Serfs*29Not classifiedTo be validated
 2015-05-16
exon 6c.1269_1270delinsAp.(Leu424Serfs*29)Likely pathogenicTo be validated
 2019-01-22
exon 6c.1279G>Ap.(Gly427Ser)PathogenicTo be validated
 2019-01-21
exon 6c.1309G>Ap.(Gly437Arg)PathogenicTo be validated
 2019-01-22
exon 6c.1330G>Tp.(Glu444*)Likely pathogenicTo be validated
 2019-01-22
exon 6c.1339G>Ap.(Glu447Lys)Likely pathogenicTo be validated
 2019-01-22
exon 6c.1346C>Gp.(Thr449Arg)Likely pathogenicTo be validated
 2019-01-22