ClinVar Miner

List of variants in gene CCN6 reported as pathogenic for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_198239.2(CCN6):c.862_863dup (p.Gln289fs) rs863223286 0.00007
NM_198239.2(CCN6):c.156C>A (p.Cys52Ter) rs121908901 0.00003
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.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.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.48+2dup rs797044439
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.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.993G>A (p.Trp331Ter) rs121908900

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