ClinVar Miner

List of variants in gene XYLT1 studied for Desbuquois dysplasia 2

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_022166.4(XYLT1):c.2028-37A>C rs3812961 0.34884
NM_022166.4(XYLT1):c.2675G>A (p.Arg892Gln) rs35309694 0.09774
NM_022166.4(XYLT1):c.2655C>T (p.Pro885=) rs924260 0.07364
NM_022166.4(XYLT1):c.2515G>A (p.Val839Ile) rs7200466 0.06145
NM_022166.4(XYLT1):c.2224-12C>T rs12325442 0.06125
NM_022166.4(XYLT1):c.668C>G (p.Ala223Gly) rs113276942 0.04661
NM_022166.4(XYLT1):c.343G>T (p.Ala115Ser) rs61758388 0.01927
NM_022166.4(XYLT1):c.1077C>T (p.His359=) rs35488326 0.01851
NM_022166.4(XYLT1):c.913+9C>T rs79173410 0.01757
NM_022166.4(XYLT1):c.2768G>A (p.Gly923Asp) rs137935194 0.00048
NM_022166.4(XYLT1):c.1216C>T (p.Arg406Trp) rs201009902 0.00006
NM_022166.4(XYLT1):c.1086+44G>A rs11075341
NM_022166.4(XYLT1):c.1108C>T (p.Gln370Ter)
NM_022166.4(XYLT1):c.1284C>G (p.Pro428=) rs28709752
NM_022166.4(XYLT1):c.1290-1G>A rs1567300982
NM_022166.4(XYLT1):c.1290-2A>C rs587777370
NM_022166.4(XYLT1):c.1441C>T (p.Arg481Trp) rs587777366
NM_022166.4(XYLT1):c.2169dup (p.Val724fs)
NM_022166.4(XYLT1):c.2267T>G (p.Phe756Cys) rs758010563
NM_022166.4(XYLT1):c.2331T>C (p.Asn777=) rs7201590
NM_022166.4(XYLT1):c.2631C>T (p.Pro877=) rs34511974
NM_022166.4(XYLT1):c.276dup (p.Pro93fs) rs587777369
NM_022166.4(XYLT1):c.281_306del (p.Gln94fs) rs1567215615
NM_022166.4(XYLT1):c.319G>T (p.Gly107Ter) rs1567215600
NM_022166.4(XYLT1):c.962T>G (p.Met321Arg) rs2032522623
NW_019805500.1:g.472169CCG[(100-833)]

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