ClinVar Miner

List of variants studied for Desbuquois dysplasia 2

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_022166.4(XYLT1):c.1989C>T (p.Ala663=) rs12708815 0.51842
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 0.07855
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 0.04995
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 0.01688
NM_022166.4(XYLT1):c.1994C>T (p.Thr665Met) rs79030430 0.01493
NM_022166.4(XYLT1):c.1588-3C>T rs201818754 0.00132
NM_022166.4(XYLT1):c.1216C>T (p.Arg406Trp) rs201009902 0.00005
NM_022166.4(XYLT1):c.1651C>T (p.Arg551Cys) rs776422861 0.00001
NM_022166.4(XYLT1):c.1792C>T (p.Arg598Cys) rs587777367 0.00001
NM_022166.4(XYLT1):c.439C>T (p.Arg147Ter) rs587777368 0.00001
NM_022166.4(XYLT1):c.1086+44G>A rs11075341
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.1730_1733dup (p.Asp578delinsGluTer) rs1085307563
NM_022166.4(XYLT1):c.2267T>G (p.Phe756Cys)
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.2768G>A (p.Gly923Asp)
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)
NW_019805500.1:g.472169CCG[(100-833)]

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