ClinVar Miner

List of variants reported as benign for Desbuquois dysplasia

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 58
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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_001159773.2(CANT1):c.159T>C (p.Ala53=) rs8077024 0.34524
NM_001159773.2(CANT1):c.-239A>G rs12949479 0.25147
NM_001159773.2(CANT1):c.*1440G>A rs4861 0.14246
NM_001159773.2(CANT1):c.-23+25G>A rs3744171 0.12298
NM_001159773.2(CANT1):c.*847C>T rs11891 0.12297
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_001159773.2(CANT1):c.1056C>T (p.Asn352=) rs3803781 0.03451
NM_001159773.2(CANT1):c.*964A>G rs75126416 0.03342
NM_001159773.2(CANT1):c.*664T>C rs79189369 0.03215
NM_001159773.2(CANT1):c.*671T>C rs114125762 0.03215
NM_001159773.2(CANT1):c.*829G>A rs115856545 0.02343
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_001159773.2(CANT1):c.-153G>T rs531435158 0.00972
NM_001159773.2(CANT1):c.*1093C>T rs8078860 0.00775
NM_022166.4(XYLT1):c.606A>G (p.Lys202=) rs114030556 0.00708
NM_022166.4(XYLT1):c.1743G>A (p.Pro581=) rs34653270 0.00640
NM_001159773.2(CANT1):c.*1149C>T rs114706748 0.00568
NM_001159773.2(CANT1):c.*1476G>A rs73999357 0.00503
NM_022166.4(XYLT1):c.2370C>A (p.Val790=) rs74750647 0.00372
NM_022166.4(XYLT1):c.2226C>T (p.Val742=) rs139693964 0.00304
NM_022166.4(XYLT1):c.1848G>C (p.Leu616=) rs150301505 0.00258
NM_022166.4(XYLT1):c.1854G>T (p.Gly618=) rs77836443 0.00230
NM_022166.4(XYLT1):c.363+18C>G rs367589791 0.00225
NM_022166.4(XYLT1):c.2028-15C>T rs150179077 0.00203
NM_001159773.2(CANT1):c.*1056T>C rs77565945 0.00109
NM_022166.4(XYLT1):c.2296C>G (p.Pro766Ala) rs12325439 0.00051
NM_022166.4(XYLT1):c.1918G>A (p.Gly640Ser) rs146288199 0.00046
NM_001159773.2(CANT1):c.*1732T>C rs184171534 0.00041
NM_022166.4(XYLT1):c.1272G>A (p.Ala424=) rs144531370 0.00031
NM_022166.4(XYLT1):c.657C>T (p.Pro219=) rs146043560 0.00026
NM_022166.4(XYLT1):c.2358T>C (p.Asp786=) rs145615486 0.00024
NM_022166.4(XYLT1):c.2656G>T (p.Ala886Ser) rs143481827 0.00019
NM_022166.4(XYLT1):c.951C>T (p.Ser317=) rs145318002 0.00017
NM_022166.4(XYLT1):c.1044C>T (p.Ala348=) rs372015293 0.00011
NM_022166.4(XYLT1):c.1289+13A>G rs759329282 0.00010
NM_022166.4(XYLT1):c.1626C>T (p.Cys542=) rs377097003 0.00006
NM_022166.4(XYLT1):c.1935C>T (p.Ser645=) rs543473631 0.00001
NM_022166.4(XYLT1):c.624C>T (p.Phe208=) rs372923585 0.00001
NM_001159773.2(CANT1):c.*570G>A rs8079368
NM_022166.4(XYLT1):c.1086+44G>A rs11075341
NM_022166.4(XYLT1):c.1284C>G (p.Pro428=) rs28709752
NM_022166.4(XYLT1):c.1588-28_1588-3dup rs545474455
NM_022166.4(XYLT1):c.2028-16G>C
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.366T>C (p.Asp122=)
NM_022166.4(XYLT1):c.402+18C>T rs111904908
NM_022166.4(XYLT1):c.630G>A (p.Gly210=)
NM_022166.4(XYLT1):c.913+15del rs2141757493

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