ClinVar Miner

List of variants in gene CCDC40 reported as pathogenic by Invitae

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Gene type:
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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393 0.00029
NM_017950.4(CCDC40):c.2824_2825insCTGT (p.Arg942fs) rs587778819 0.00004
NM_017950.4(CCDC40):c.1073dup (p.Arg359fs) rs781507988 0.00002
NM_017950.4(CCDC40):c.1312A>T (p.Lys438Ter) rs371595543 0.00001
NM_017950.4(CCDC40):c.2440C>T (p.Arg814Ter) rs747233125 0.00001
NM_017950.4(CCDC40):c.3097A>T (p.Lys1033Ter) rs863224519 0.00001
NM_017950.4(CCDC40):c.3175C>T (p.Arg1059Ter) rs1312712049 0.00001
NM_017950.4(CCDC40):c.415C>T (p.Gln139Ter) rs764551914 0.00001
NM_017950.4(CCDC40):c.901C>T (p.Arg301Ter) rs201223986 0.00001
NM_017950.4(CCDC40):c.940-2A>G rs750708201 0.00001
NM_017950.4(CCDC40):c.961C>T (p.Arg321Ter) rs754867753 0.00001
NC_000017.10:g.(?_78039264)_(78039425_?)del
NC_000017.11:g.(?_80058474)_(80059000_?)del
NM_017950.4(CCDC40):c.1225C>T (p.Gln409Ter) rs1472033145
NM_017950.4(CCDC40):c.1276G>T (p.Glu426Ter) rs775299709
NM_017950.4(CCDC40):c.1345C>T (p.Arg449Ter) rs387907093
NM_017950.4(CCDC40):c.1416del (p.Ile473fs) rs764011276
NM_017950.4(CCDC40):c.1571del (p.Gln524fs)
NM_017950.4(CCDC40):c.1579del (p.Ala527fs) rs2143733843
NM_017950.4(CCDC40):c.1620del (p.Ile541fs) rs878855041
NM_017950.4(CCDC40):c.163del (p.Glu55fs)
NM_017950.4(CCDC40):c.1696C>T (p.Gln566Ter)
NM_017950.4(CCDC40):c.1741_1760del (p.Ser581fs)
NM_017950.4(CCDC40):c.1951C>T (p.Gln651Ter) rs387907092
NM_017950.4(CCDC40):c.1989+1G>A rs745993158
NM_017950.4(CCDC40):c.2183_2184del (p.Gly728fs) rs751191119
NM_017950.4(CCDC40):c.2236-2del rs1336208372
NM_017950.4(CCDC40):c.2457del (p.Ile819fs) rs1277942930
NM_017950.4(CCDC40):c.2498dup (p.Met833fs)
NM_017950.4(CCDC40):c.2590_2591insAC (p.Thr864fs)
NM_017950.4(CCDC40):c.2597A>G (p.Asn866Ser) rs2038617610
NM_017950.4(CCDC40):c.2647C>T (p.Gln883Ter) rs755004291
NM_017950.4(CCDC40):c.2660dup (p.Asn887fs) rs1567811487
NM_017950.4(CCDC40):c.2671G>T (p.Glu891Ter) rs773796940
NM_017950.4(CCDC40):c.2712-1G>A rs370706991
NM_017950.4(CCDC40):c.2712-1G>T rs370706991
NM_017950.4(CCDC40):c.2740del (p.Ile914fs)
NM_017950.4(CCDC40):c.2753_2754del (p.Lys918fs)
NM_017950.4(CCDC40):c.2852dup (p.Lys952fs) rs878855042
NM_017950.4(CCDC40):c.2920C>T (p.Gln974Ter)
NM_017950.4(CCDC40):c.2944dup (p.Asp982fs)
NM_017950.4(CCDC40):c.3004dup (p.Ile1002fs) rs1278589861
NM_017950.4(CCDC40):c.3100C>T (p.Gln1034Ter)
NM_017950.4(CCDC40):c.3129del (p.Phe1044fs) rs1418585908
NM_017950.4(CCDC40):c.3157del (p.Arg1053fs) rs1567818236
NM_017950.4(CCDC40):c.3224T>C (p.Leu1075Pro)
NM_017950.4(CCDC40):c.3349G>T (p.Glu1117Ter) rs145595957
NM_017950.4(CCDC40):c.3354C>A (p.Tyr1118Ter) rs374909386
NM_017950.4(CCDC40):c.3358C>T (p.Gln1120Ter) rs2143789412
NM_017950.4(CCDC40):c.390_391dup (p.Ser131fs)
NM_017950.4(CCDC40):c.394_395del (p.Ser131_Val132insTer) rs2143577665
NM_017950.4(CCDC40):c.397_422dup (p.Phe141fs) rs2037236648
NM_017950.4(CCDC40):c.424C>T (p.Gln142Ter) rs1568667609
NM_017950.4(CCDC40):c.463del (p.Arg155fs)
NM_017950.4(CCDC40):c.687_696del (p.Gly230fs)
NM_017950.4(CCDC40):c.712G>T (p.Glu238Ter)
NM_017950.4(CCDC40):c.783_784del (p.Arg261fs) rs757076408
NM_017950.4(CCDC40):c.940-1G>C rs2037540861

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