ClinVar Miner

List of variants in gene CC2D2A reported as pathogenic for Joubert syndrome with oculorenal defect

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_001378615.1(CC2D2A):c.1762C>T (p.Gln588Ter) rs116358011 0.00057
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter) rs370880399 0.00011
NM_001378615.1(CC2D2A):c.1017+1G>A rs200407856 0.00008
NM_001378615.1(CC2D2A):c.3347C>T (p.Thr1116Met) rs267606709 0.00006
NM_001378615.1(CC2D2A):c.2803C>T (p.Arg935Ter) rs563610095 0.00004
NM_001378615.1(CC2D2A):c.3341C>T (p.Thr1114Met) rs386833752 0.00003
NM_001378615.1(CC2D2A):c.4333C>T (p.Arg1445Ter) rs529437224 0.00003
NM_001378615.1(CC2D2A):c.3596T>C (p.Ile1199Thr) rs760918829 0.00002
NM_001378615.1(CC2D2A):c.3688C>T (p.Arg1230Ter) rs1022325907 0.00002
NM_001378615.1(CC2D2A):c.3850C>T (p.Arg1284Cys) rs779823379 0.00002
NM_001378615.1(CC2D2A):c.1267C>T (p.Arg423Ter) rs757208121 0.00001
NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter) rs781252161 0.00001
NM_001378615.1(CC2D2A):c.2848C>T (p.Arg950Ter) rs118204053 0.00001
NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val) rs773881370 0.00001
NM_001378615.1(CC2D2A):c.3134T>C (p.Val1045Ala) rs863225173 0.00001
NM_001378615.1(CC2D2A):c.3452T>C (p.Val1151Ala) rs863225170 0.00001
NM_001378615.1(CC2D2A):c.3989G>A (p.Arg1330Gln) rs763486732 0.00001
NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys) rs118204052 0.00001
NM_001378615.1(CC2D2A):c.4600T>G (p.Leu1534Val) rs778858648 0.00001
NM_001378615.1(CC2D2A):c.4741A>G (p.Thr1581Ala) rs863225174 0.00001
NM_001378615.1(CC2D2A):c.517C>T (p.Arg173Ter) rs386833763 0.00001
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001378615.1(CC2D2A):c.1149+1G>A rs1553827236
NM_001378615.1(CC2D2A):c.1263_1264insGGCATGTTTTGGCAGCGA (p.Phe421_Ser422insGlyMetPheTrpGlnArg) rs762998472
NM_001378615.1(CC2D2A):c.1339del (p.Ala447fs) rs386833745
NM_001378615.1(CC2D2A):c.1503_1505del (p.Lys501_Asp502delinsAsn) rs863225177
NM_001378615.1(CC2D2A):c.1538G>A (p.Trp513Ter) rs2109029867
NM_001378615.1(CC2D2A):c.1676T>C (p.Leu559Pro) rs754221308
NM_001378615.1(CC2D2A):c.1751G>A (p.Trp584Ter) rs980305935
NM_001378615.1(CC2D2A):c.2338+1G>C rs2109050324
NM_001378615.1(CC2D2A):c.2339-2A>C rs1719092280
NM_001378615.1(CC2D2A):c.2624C>A (p.Ser875Ter) rs200904521
NM_001378615.1(CC2D2A):c.2671G>A (p.Glu891Lys) rs863225178
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter) rs764719093
NM_001378615.1(CC2D2A):c.2710G>T (p.Glu904Ter)
NM_001378615.1(CC2D2A):c.2923-1G>A
NM_001378615.1(CC2D2A):c.3084del (p.Lys1029fs) rs386833749
NM_001378615.1(CC2D2A):c.3145C>T (p.Arg1049Ter) rs386833750
NM_001378615.1(CC2D2A):c.3288G>C (p.Gln1096His) rs863225169
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001378615.1(CC2D2A):c.3613dup (p.Ile1205fs)
NM_001378615.1(CC2D2A):c.3744_3747dup (p.Pro1250fs) rs863225171
NM_001378615.1(CC2D2A):c.3772-1G>T rs863225172
NM_001378615.1(CC2D2A):c.3774dup (p.Glu1259Ter) rs386833757
NM_001378615.1(CC2D2A):c.3892_3893del (p.Val1298fs) rs763735590
NM_001378615.1(CC2D2A):c.3975+4_3975+7del rs386833759
NM_001378615.1(CC2D2A):c.4021_4022del (p.Thr1341fs) rs1577396376
NM_001378615.1(CC2D2A):c.4179+1del rs386833760
NM_001378615.1(CC2D2A):c.4226T>C (p.Ile1409Thr) rs863225176
NM_001378615.1(CC2D2A):c.4256del (p.Gly1419fs) rs772110399
NM_001378615.1(CC2D2A):c.4289T>C (p.Val1430Ala) rs863225168
NM_001378615.1(CC2D2A):c.4437+1G>A rs786205568
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437
NM_001378615.1(CC2D2A):c.4491A>C (p.Gln1497His) rs863225179
NM_001378615.1(CC2D2A):c.4531T>C (p.Trp1511Arg) rs1721483506
NM_001378615.1(CC2D2A):c.4844_4847del (p.Ser1615fs) rs863225175
NM_001378615.1(CC2D2A):c.650del (p.Gly217fs) rs746415983
NM_001378615.1(CC2D2A):c.715del (p.Met239fs)

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