ClinVar Miner

List of variants in gene XYLT2 reported as uncertain significance for Inborn genetic diseases

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_022167.4(XYLT2):c.1841C>T (p.Ala614Val) rs149423854 0.00084
NM_022167.4(XYLT2):c.1708G>A (p.Ala570Thr) rs199816555 0.00024
NM_022167.4(XYLT2):c.1859C>T (p.Thr620Met) rs368387862 0.00014
NM_022167.4(XYLT2):c.2048A>G (p.Asn683Ser) rs201333400 0.00007
NM_022167.4(XYLT2):c.2080A>G (p.Thr694Ala) rs145098209 0.00004
NM_022167.4(XYLT2):c.1132G>A (p.Asp378Asn) rs142963935 0.00002
NM_022167.4(XYLT2):c.1319C>T (p.Thr440Met) rs758112079 0.00001
NM_022167.4(XYLT2):c.1129T>C (p.Cys377Arg)
NM_022167.4(XYLT2):c.1158G>C (p.Glu386Asp)
NM_022167.4(XYLT2):c.1270C>T (p.Arg424Cys)
NM_022167.4(XYLT2):c.1271G>A (p.Arg424His)
NM_022167.4(XYLT2):c.1540G>A (p.Val514Met)
NM_022167.4(XYLT2):c.158G>A (p.Arg53Gln)
NM_022167.4(XYLT2):c.1600A>G (p.Lys534Glu)
NM_022167.4(XYLT2):c.1627G>A (p.Ala543Thr)
NM_022167.4(XYLT2):c.1850C>T (p.Pro617Leu)
NM_022167.4(XYLT2):c.1892T>C (p.Leu631Pro)
NM_022167.4(XYLT2):c.1903G>A (p.Gly635Arg)
NM_022167.4(XYLT2):c.1931A>G (p.Gln644Arg)
NM_022167.4(XYLT2):c.1970G>A (p.Arg657His)
NM_022167.4(XYLT2):c.2039G>A (p.Arg680Gln)
NM_022167.4(XYLT2):c.212G>A (p.Arg71Gln)
NM_022167.4(XYLT2):c.2176C>T (p.Pro726Ser) rs1598353144
NM_022167.4(XYLT2):c.2378C>T (p.Ala793Val)
NM_022167.4(XYLT2):c.299C>T (p.Thr100Ile)
NM_022167.4(XYLT2):c.437G>A (p.Ser146Asn)
NM_022167.4(XYLT2):c.463G>A (p.Asp155Asn)
NM_022167.4(XYLT2):c.560A>G (p.Asn187Ser)
NM_022167.4(XYLT2):c.602C>T (p.Ala201Val)
NM_022167.4(XYLT2):c.772G>C (p.Glu258Gln)
NM_022167.4(XYLT2):c.801C>G (p.Asp267Glu)
NM_022167.4(XYLT2):c.823C>G (p.Arg275Gly)
NM_022167.4(XYLT2):c.863G>A (p.Arg288Gln)
NM_022167.4(XYLT2):c.878G>A (p.Arg293His)
NM_022167.4(XYLT2):c.8C>T (p.Ala3Val)
NM_022167.4(XYLT2):c.901G>A (p.Ala301Thr)
NM_022167.4(XYLT2):c.925C>G (p.Arg309Gly)

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