ClinVar Miner

List of variants in gene CC2D2A reported as uncertain significance for Joubert syndrome

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Total variants: 58
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HGVS dbSNP
NM_001080522.2(CC2D2A):c.*1T>A rs199945435
NM_001080522.2(CC2D2A):c.*45G>C rs372449768
NM_001080522.2(CC2D2A):c.1041C>T (p.Asp347=) rs371086728
NM_001080522.2(CC2D2A):c.1401A>C (p.Pro467=) rs886059136
NM_001080522.2(CC2D2A):c.1713G>A (p.Met571Ile) rs886059137
NM_001080522.2(CC2D2A):c.1731G>A (p.Ser577=) rs376746356
NM_001080522.2(CC2D2A):c.1821T>C (p.Ile607=) rs373296447
NM_001080522.2(CC2D2A):c.1827G>A (p.Glu609=) rs886059138
NM_001080522.2(CC2D2A):c.1880G>A (p.Arg627Gln) rs752576142
NM_001080522.2(CC2D2A):c.1946C>G (p.Thr649Arg) rs201884883
NM_001080522.2(CC2D2A):c.1947G>A (p.Thr649=) rs756341605
NM_001080522.2(CC2D2A):c.1953C>T (p.Val651=) rs550913315
NM_001080522.2(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001080522.2(CC2D2A):c.2056G>A (p.Val686Met) rs369476930
NM_001080522.2(CC2D2A):c.2133G>C (p.Gln711His) rs886059139
NM_001080522.2(CC2D2A):c.2339-10_2339-9del rs886059157
NM_001080522.2(CC2D2A):c.2482C>T (p.Arg828Trp) rs749997192
NM_001080522.2(CC2D2A):c.2486+8A>G rs749186859
NM_001080522.2(CC2D2A):c.2486+9T>C rs768382177
NM_001080522.2(CC2D2A):c.2526A>G (p.Thr842=) rs886059158
NM_001080522.2(CC2D2A):c.2597A>G (p.Asn866Ser) rs199563573
NM_001080522.2(CC2D2A):c.2731T>C (p.Phe911Leu) rs368886216
NM_001080522.2(CC2D2A):c.2734A>G (p.Arg912Gly) rs574421639
NM_001080522.2(CC2D2A):c.2844G>A (p.Arg948=) rs182369056
NM_001080522.2(CC2D2A):c.3046G>A (p.Glu1016Lys) rs373960465
NM_001080522.2(CC2D2A):c.3200C>T (p.Ser1067Leu) rs886059181
NM_001080522.2(CC2D2A):c.3333T>C (p.Val1111=) rs753770061
NM_001080522.2(CC2D2A):c.3365C>G (p.Pro1122Arg) rs886059182
NM_001080522.2(CC2D2A):c.3398+13T>C rs886059183
NM_001080522.2(CC2D2A):c.3398+7A>G rs772784324
NM_001080522.2(CC2D2A):c.3399-15T>C rs181612746
NM_001080522.2(CC2D2A):c.3499G>A (p.Asp1167Asn) rs371998498
NM_001080522.2(CC2D2A):c.3524A>G (p.His1175Arg) rs886059184
NM_001080522.2(CC2D2A):c.355T>C (p.Leu119=) rs202150325
NM_001080522.2(CC2D2A):c.3670C>T (p.Arg1224Trp) rs369648324
NM_001080522.2(CC2D2A):c.3846A>T (p.Pro1282=) rs372292129
NM_001080522.2(CC2D2A):c.3872T>C (p.Ile1291Thr) rs370492044
NM_001080522.2(CC2D2A):c.389G>T (p.Arg130Leu) rs778519147
NM_001080522.2(CC2D2A):c.4005T>A (p.Ile1335=) rs199688524
NM_001080522.2(CC2D2A):c.4098A>C (p.Glu1366Asp) rs557038070
NM_001080522.2(CC2D2A):c.4202C>G (p.Thr1401Ser) rs143947747
NM_001080522.2(CC2D2A):c.4296T>C (p.Cys1432=) rs372671421
NM_001080522.2(CC2D2A):c.4438-9C>A rs117667651
NM_001080522.2(CC2D2A):c.4442A>C (p.Glu1481Ala) rs886059185
NM_001080522.2(CC2D2A):c.4459C>T (p.Arg1487Cys) rs186486235
NM_001080522.2(CC2D2A):c.4659G>C (p.Gln1553His) rs375083236
NM_001080522.2(CC2D2A):c.4675-12T>G rs769761582
NM_001080522.2(CC2D2A):c.4675-14T>A rs766203266
NM_001080522.2(CC2D2A):c.4688C>T (p.Pro1563Leu) rs886059186
NM_001080522.2(CC2D2A):c.4809C>G (p.Pro1603=) rs367841700
NM_001080522.2(CC2D2A):c.501G>T (p.Lys167Asn) rs190694237
NM_001080522.2(CC2D2A):c.541-5G>A rs369022150
NM_001080522.2(CC2D2A):c.717+11T>C rs184351317
NM_001080522.2(CC2D2A):c.762A>G (p.Leu254=) rs116198081
NM_001080522.2(CC2D2A):c.880G>C (p.Val294Leu) rs201986486
NM_020785.2(CC2D2A):c.-212T>C rs886059135
NM_020785.2(CC2D2A):c.-32G>A rs183968785
NM_020785.2(CC2D2A):c.10A>G (p.Arg4Gly) rs758963962

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