ClinVar Miner

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

Included ClinVar conditions (64):
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Gene type:
ClinVar version:
Total variants: 61
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HGVS dbSNP
CC2D2A, 1-BP DEL, 3289G
CC2D2A, IVS19DS, G-C, +1
NC_000004.11:g.(?_15477537)_(15603068_?)del
NC_000004.11:g.15601250_15601251delCT rs794729226
NC_000004.12:g.(?_15478723)_(15480827_?)del
NC_000004.12:g.(?_15540837)_(15541014_?)del
NM_001080522.2(CC2D2A):c.1017+1G>A rs200407856
NM_001080522.2(CC2D2A):c.1263_1264insGGCATGTTTTGGCAGCGA (p.Ser422_Arg423insGlyMetPheTrpGlnArg) rs762998472
NM_001080522.2(CC2D2A):c.1267C>T (p.Arg423Ter) rs757208121
NM_001080522.2(CC2D2A):c.1503_1505del (p.Lys501_Asp502delinsAsn) rs863225177
NM_001080522.2(CC2D2A):c.1558C>T (p.Arg520Ter) rs781252161
NM_001080522.2(CC2D2A):c.1676T>C (p.Leu559Pro) rs754221308
NM_001080522.2(CC2D2A):c.2624C>A (p.Ser875Ter) rs200904521
NM_001080522.2(CC2D2A):c.2625+1G>A rs1577372471
NM_001080522.2(CC2D2A):c.2671G>A (p.Glu891Lys) rs863225178
NM_001080522.2(CC2D2A):c.2683C>T (p.Gln895Ter) rs764719093
NM_001080522.2(CC2D2A):c.2848C>T (p.Arg950Ter) rs118204053
NM_001080522.2(CC2D2A):c.2999A>T (p.Glu1000Val) rs773881370
NM_001080522.2(CC2D2A):c.3055C>T (p.Arg1019Ter) rs370880399
NM_001080522.2(CC2D2A):c.3084del (p.Lys1029fs) rs386833749
NM_001080522.2(CC2D2A):c.3134T>C (p.Val1045Ala) rs863225173
NM_001080522.2(CC2D2A):c.3145C>T (p.Arg1049Ter) rs386833750
NM_001080522.2(CC2D2A):c.3288G>C (p.Gln1096His) rs863225169
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001080522.2(CC2D2A):c.3341C>T (p.Thr1114Met) rs386833752
NM_001080522.2(CC2D2A):c.3347C>T (p.Thr1116Met) rs267606709
NM_001080522.2(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001080522.2(CC2D2A):c.3452T>C (p.Val1151Ala) rs863225170
NM_001080522.2(CC2D2A):c.3588del (p.Ala1197fs) rs982352950
NM_001080522.2(CC2D2A):c.3596T>C (p.Ile1199Thr) rs760918829
NM_001080522.2(CC2D2A):c.3652C>T (p.Arg1218Ter) rs375278294
NM_001080522.2(CC2D2A):c.3744_3747dup (p.Pro1250fs) rs863225171
NM_001080522.2(CC2D2A):c.3772-1G>T rs863225172
NM_001080522.2(CC2D2A):c.3774dup (p.Glu1259Ter) rs386833757
NM_001080522.2(CC2D2A):c.3850C>T (p.Arg1284Cys) rs779823379
NM_001080522.2(CC2D2A):c.3892_3893del (p.Val1298fs) rs763735590
NM_001080522.2(CC2D2A):c.394C>T (p.Arg132Ter) rs377177061
NM_001080522.2(CC2D2A):c.3975+4_3975+7del rs386833759
NM_001080522.2(CC2D2A):c.3988C>T (p.Arg1330Ter) rs758036385
NM_001080522.2(CC2D2A):c.3989G>A (p.Arg1330Gln) rs763486732
NM_001080522.2(CC2D2A):c.4019_4020AC[1] (p.Thr1341fs) rs1577396376
NM_001080522.2(CC2D2A):c.4084dup (p.Ala1362fs) rs1313708855
NM_001080522.2(CC2D2A):c.4179+1del rs386833760
NM_001080522.2(CC2D2A):c.4226T>C (p.Ile1409Thr) rs863225176
NM_001080522.2(CC2D2A):c.4289T>C (p.Val1430Ala) rs863225168
NM_001080522.2(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437
NM_001080522.2(CC2D2A):c.4491A>C (p.Gln1497His) rs863225179
NM_001080522.2(CC2D2A):c.4552C>T (p.Arg1518Trp) rs767260373
NM_001080522.2(CC2D2A):c.4582C>T (p.Arg1528Cys) rs118204052
NM_001080522.2(CC2D2A):c.4600T>G (p.Leu1534Val) rs778858648
NM_001080522.2(CC2D2A):c.4741A>G (p.Thr1581Ala) rs863225174
NM_001080522.2(CC2D2A):c.4844_4847del rs863225175
NM_001080522.2(CC2D2A):c.541-1G>A
NM_001080522.2(CC2D2A):c.650del (p.Gly217fs) rs746415983
NM_001080522.2(CC2D2A):c.964del (p.Val322fs) rs1577340510
NM_001378615.1(CC2D2A):c.2222_2229dup (p.Phe744fs)
NM_001378615.1(CC2D2A):c.2774G>C (p.Arg925Pro)
NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter)
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401
NM_001378615.1(CC2D2A):c.941_943delinsC (p.Leu314fs)
NM_020785.2(CC2D2A):c.305del (p.Gly102fs) rs1433294475

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