ClinVar Miner

List of variants in gene CCDC39 reported as pathogenic by Invitae

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_181426.2(CCDC39):c.1167+1261A>G rs577069249 0.00051
NM_181426.2(CCDC39):c.610-2A>G rs756235547 0.00009
NM_181426.2(CCDC39):c.357+1G>C rs397515392 0.00007
NM_181426.2(CCDC39):c.1874G>T (p.Ser625Ile) rs769223754 0.00006
NM_181426.2(CCDC39):c.1795C>T (p.Arg599Ter) rs201780665 0.00004
NM_181426.2(CCDC39):c.1159del (p.Asp387fs) rs1275367324 0.00001
NM_181426.2(CCDC39):c.1356C>A (p.Tyr452Ter) rs375839864 0.00001
NM_181426.2(CCDC39):c.1665+1G>A rs753580394 0.00001
NM_181426.2(CCDC39):c.286C>T (p.Arg96Ter) rs778577109 0.00001
NM_181426.2(CCDC39):c.451del (p.Ala151fs) rs1553805885 0.00001
NM_181426.2(CCDC39):c.664G>T (p.Glu222Ter) rs1047910260 0.00001
NC_000003.11:g.(?_180369169)_(180369341_?)dup
NC_000003.12:g.(?_180651381)_(180651553_?)del
NC_000003.12:g.(?_180652143)_(180652286_?)del
NC_000003.12:g.180652267_180652268insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAATCCAGC
NM_181426.1(CCDC39):c.1035delG rs1553804640
NM_181426.2(CCDC39):c.1006A>T (p.Lys336Ter)
NM_181426.2(CCDC39):c.1007_1010del (p.Lys336fs)
NM_181426.2(CCDC39):c.1045del (p.Thr349fs) rs747980515
NM_181426.2(CCDC39):c.1059del (p.Asn353fs)
NM_181426.2(CCDC39):c.1072del (p.Thr358fs) rs587778822
NM_181426.2(CCDC39):c.1073_1076del (p.Thr358fs) rs878855279
NM_181426.2(CCDC39):c.1113dup (p.Glu372fs)
NM_181426.2(CCDC39):c.112A>T (p.Arg38Ter)
NM_181426.2(CCDC39):c.114_115del (p.Arg38fs)
NM_181426.2(CCDC39):c.1158del (p.Asp387fs)
NM_181426.2(CCDC39):c.1167+1G>A
NM_181426.2(CCDC39):c.1199del (p.Gly400fs)
NM_181426.2(CCDC39):c.1208_1209insGGTGTGCTGTTGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGTGTGCTGTT (p.Phe403fs) rs2108421980
NM_181426.2(CCDC39):c.1228C>T (p.Gln410Ter)
NM_181426.2(CCDC39):c.1242del (p.Met414fs) rs1553804220
NM_181426.2(CCDC39):c.1252del (p.Ala418fs)
NM_181426.2(CCDC39):c.1257_1258insA (p.Leu420fs)
NM_181426.2(CCDC39):c.1311dup (p.Gln438fs) rs1553804209
NM_181426.2(CCDC39):c.1345G>T (p.Glu449Ter)
NM_181426.2(CCDC39):c.1381del (p.Val461fs)
NM_181426.2(CCDC39):c.1384G>T (p.Glu462Ter)
NM_181426.2(CCDC39):c.139_142del (p.Glu47fs)
NM_181426.2(CCDC39):c.1411G>T (p.Glu471Ter)
NM_181426.2(CCDC39):c.1484_1485del (p.Lys495fs) rs751239231
NM_181426.2(CCDC39):c.1485dup (p.Ser496fs) rs751239231
NM_181426.2(CCDC39):c.1528-2A>G
NM_181426.2(CCDC39):c.1528-2A>T
NM_181426.2(CCDC39):c.1540_1544del (p.Phe514fs) rs2108420039
NM_181426.2(CCDC39):c.1579C>T (p.Gln527Ter)
NM_181426.2(CCDC39):c.157_160del (p.Asn53fs)
NM_181426.2(CCDC39):c.1603G>T (p.Glu535Ter)
NM_181426.2(CCDC39):c.1625_1632del (p.Arg542fs)
NM_181426.2(CCDC39):c.1636G>T (p.Glu546Ter)
NM_181426.2(CCDC39):c.163_164del (p.Met55fs) rs878855280
NM_181426.2(CCDC39):c.1644del (p.Asp548fs) rs863224531
NM_181426.2(CCDC39):c.1674_1675dup (p.Ile559fs) rs2108418891
NM_181426.2(CCDC39):c.1693A>T (p.Lys565Ter)
NM_181426.2(CCDC39):c.1705A>T (p.Lys569Ter)
NM_181426.2(CCDC39):c.1731dup (p.Lys578Ter)
NM_181426.2(CCDC39):c.1753del (p.Ser584_Leu585insTer)
NM_181426.2(CCDC39):c.1756del (p.Glu586fs) rs1285431486
NM_181426.2(CCDC39):c.1801G>T (p.Glu601Ter)
NM_181426.2(CCDC39):c.1833del (p.Ser612fs) rs1256848235
NM_181426.2(CCDC39):c.1848del (p.Arg615_Tyr616insTer) rs1576941580
NM_181426.2(CCDC39):c.1871_1872del (p.Ile624fs) rs1560086701
NM_181426.2(CCDC39):c.1874+1G>A rs1553803540
NM_181426.2(CCDC39):c.1876_1877dup (p.Glu627fs)
NM_181426.2(CCDC39):c.1939_1940del (p.Val647fs)
NM_181426.2(CCDC39):c.1964_1968del (p.Glu655fs) rs1717695462
NM_181426.2(CCDC39):c.2017G>T (p.Glu673Ter) rs762287443
NM_181426.2(CCDC39):c.2040_2043del (p.Cys680fs) rs1174553107
NM_181426.2(CCDC39):c.210+2T>C
NM_181426.2(CCDC39):c.216_217del (p.Cys73fs)
NM_181426.2(CCDC39):c.2190del (p.Glu731fs) rs587778820
NM_181426.2(CCDC39):c.2194C>T (p.Gln732Ter)
NM_181426.2(CCDC39):c.2250del (p.Gln751fs)
NM_181426.2(CCDC39):c.284del (p.Gly95fs)
NM_181426.2(CCDC39):c.341del (p.Lys114fs)
NM_181426.2(CCDC39):c.402T>A (p.Cys134Ter) rs1560092440
NM_181426.2(CCDC39):c.436del (p.Trp146fs) rs2108429507
NM_181426.2(CCDC39):c.485dup (p.Tyr163fs)
NM_181426.2(CCDC39):c.493C>T (p.Gln165Ter) rs1711717951
NM_181426.2(CCDC39):c.526_527del (p.Leu176fs) rs780175755
NM_181426.2(CCDC39):c.529C>T (p.Gln177Ter)
NM_181426.2(CCDC39):c.542dup (p.Thr182fs)
NM_181426.2(CCDC39):c.547_548del (p.Leu183fs) rs758482424
NM_181426.2(CCDC39):c.570_571del (p.Lys190fs) rs1560092160
NM_181426.2(CCDC39):c.590_591dup (p.Glu198fs) rs1553805740
NM_181426.2(CCDC39):c.610-2A>C
NM_181426.2(CCDC39):c.610_613del rs1415346246
NM_181426.2(CCDC39):c.662_663del (p.Gln221fs)
NM_181426.2(CCDC39):c.669_670insTA (p.Ile224Ter)
NM_181426.2(CCDC39):c.706A>T (p.Lys236Ter)
NM_181426.2(CCDC39):c.74del (p.Lys25fs)
NM_181426.2(CCDC39):c.811del (p.Ser271fs)
NM_181426.2(CCDC39):c.830_831del (p.Thr277fs) rs773801386
NM_181426.2(CCDC39):c.840_841del (p.Arg282fs)
NM_181426.2(CCDC39):c.841A>T (p.Lys281Ter)
NM_181426.2(CCDC39):c.891T>G (p.Tyr297Ter)
NM_181426.2(CCDC39):c.931-1G>T
NM_181426.2(CCDC39):c.945_951del (p.Lys315_Ala316insTer) rs1560090006
NM_181426.2(CCDC39):c.949dup (p.Thr317fs)
NM_181426.2(CCDC39):c.95C>G (p.Ser32Ter)

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