ClinVar Miner

List of variants in gene CCN6 studied for bone development disease

Included ClinVar conditions (618):
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Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_198239.2(CCN6):c.168G>T (p.Gln56His) rs1230345 0.32081
NM_198239.2(CCN6):c.-254A>G rs3806964 0.25539
NM_198239.2(CCN6):c.72T>C (p.Thr24=) rs1230346 0.04506
NM_198239.2(CCN6):c.807A>G (p.Gln269=) rs17219737 0.04415
NM_198239.2(CCN6):c.178C>T (p.Arg60Cys) rs17073260 0.03059
NM_198239.2(CCN6):c.237C>T (p.Ala79=) rs112665393 0.01588
NM_198239.2(CCN6):c.78A>T (p.Pro26=) rs9487806 0.01017
NM_198239.2(CCN6):c.366C>T (p.Cys122=) rs112686348 0.00843
NM_198239.2(CCN6):c.892A>C (p.Ile298Leu) rs34686812 0.00417
NM_198239.2(CCN6):c.77C>T (p.Pro26Leu) rs149609367 0.00210
NM_198239.2(CCN6):c.533A>T (p.Asn178Ile) rs35374349 0.00180
NM_198239.2(CCN6):c.91C>A (p.Pro31Thr) rs145590972 0.00175
NM_198239.2(CCN6):c.327C>T (p.Tyr109=) rs145747429 0.00108
NM_198239.2(CCN6):c.248G>A (p.Gly83Glu) rs147337485 0.00039
NM_198239.2(CCN6):c.131G>A (p.Arg44His) rs782703789 0.00011
NM_198239.2(CCN6):c.862_863dup (p.Gln289fs) rs863223286 0.00007
NM_198239.2(CCN6):c.757G>A (p.Asp253Asn) rs140750750 0.00004
NM_198239.2(CCN6):c.156C>A (p.Cys52Ter) rs121908901 0.00003
NM_198239.2(CCN6):c.48+13C>T rs375836805 0.00002
NM_198239.2(CCN6):c.434G>A (p.Cys145Tyr) rs121908899 0.00001
NM_198239.2(CCN6):c.43_44del (p.Ala15fs) rs1554311394 0.00001
NM_198239.2(CCN6):c.589G>C (p.Ala197Pro) rs1554313639 0.00001
NM_198239.2(CCN6):c.707del (p.Ser236fs) rs1583586843 0.00001
NM_198239.2(CCN6):c.783+14A>G rs781966767 0.00001
NM_198239.2(CCN6):c.1000T>C (p.Ser334Pro) rs121908903
NM_198239.2(CCN6):c.1010G>A (p.Cys337Tyr) rs781986930
NM_198239.2(CCN6):c.1011_1014delinsATT (p.Cys337_Gln338delinsTer) rs2114473419
NM_198239.2(CCN6):c.149G>A (p.Trp50Ter) rs927750682
NM_198239.2(CCN6):c.183C>T (p.Cys61=) rs886060987
NM_198239.2(CCN6):c.232T>C (p.Cys78Arg) rs121908902
NM_198239.2(CCN6):c.233G>A (p.Cys78Tyr) rs1562595388
NM_198239.2(CCN6):c.246del (p.Glu84fs) rs797044438
NM_198239.2(CCN6):c.296_298delinsTTA (p.Tyr99_Cys100delinsPheSer)
NM_198239.2(CCN6):c.29T>C (p.Leu10Pro) rs1776282450
NM_198239.2(CCN6):c.346+5G>A
NM_198239.2(CCN6):c.40_44del (p.Leu14fs)
NM_198239.2(CCN6):c.48+2dup rs797044439
NM_198239.2(CCN6):c.535T>G (p.Cys179Gly) rs782783177
NM_198239.2(CCN6):c.589+1G>A rs879255273
NM_198239.2(CCN6):c.624dup (p.Cys209fs) rs781790231
NM_198239.2(CCN6):c.626_627del (p.Cys209fs) rs2114469138
NM_198239.2(CCN6):c.648G>T (p.Trp216Cys) rs781860587
NM_198239.2(CCN6):c.667T>G (p.Cys223Gly)
NM_198239.2(CCN6):c.692del (p.Val231fs) rs1562599153
NM_198239.2(CCN6):c.737del (p.Leu246fs)
NM_198239.2(CCN6):c.740_741del (p.Cys247fs) rs727503755
NM_198239.2(CCN6):c.799dup (p.Thr267fs) rs1776805400
NM_198239.2(CCN6):c.80T>A (p.Leu27Ter) rs2114444927
NM_198239.2(CCN6):c.840del (p.Phe280fs) rs797044440
NM_198239.2(CCN6):c.868_869del (p.Ser290fs) rs781838640
NM_198239.2(CCN6):c.897C>A (p.Cys299Ter)
NM_198239.2(CCN6):c.993G>A (p.Trp331Ter) rs121908900

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