ClinVar Miner

List of variants in gene CCN6 reported as pathogenic by OMIM

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Total variants: 11
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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.1000T>C (p.Ser334Pro) rs121908903
NM_198239.2(CCN6):c.232T>C (p.Cys78Arg) rs121908902
NM_198239.2(CCN6):c.246del (p.Glu84fs) rs797044438
NM_198239.2(CCN6):c.48+2dup rs797044439
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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