ClinVar Miner

List of variants in gene CC2D2A studied for abdominal and pelvic region disorder

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 155
Download table as spreadsheet
HGVS dbSNP
NC_000004.11:g.(?_15480347)_(15482451_?)del
NM_001080522.2(CC2D2A):c.*1T>A rs199945435
NM_001080522.2(CC2D2A):c.*21G>C rs1134634
NM_001080522.2(CC2D2A):c.*45G>C rs372449768
NM_001080522.2(CC2D2A):c.1017+1G>A rs200407856
NM_001080522.2(CC2D2A):c.1041C>T (p.Asp347=) rs371086728
NM_001080522.2(CC2D2A):c.1127A>C (p.Glu376Ala) rs16892095
NM_001080522.2(CC2D2A):c.1162G>A (p.Val388Ile) rs115924432
NM_001080522.2(CC2D2A):c.1260T>G (p.Cys420Trp)
NM_001080522.2(CC2D2A):c.1266C>G (p.Ser422Arg) rs1229319521
NM_001080522.2(CC2D2A):c.1267C>T (p.Arg423Ter) rs757208121
NM_001080522.2(CC2D2A):c.1339del (p.Ala447fs) rs386833745
NM_001080522.2(CC2D2A):c.1359+10A>G rs373012628
NM_001080522.2(CC2D2A):c.1359+9G>T rs369964702
NM_001080522.2(CC2D2A):c.1401A>C (p.Pro467=) rs886059136
NM_001080522.2(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937
NM_001080522.2(CC2D2A):c.1533A>T (p.Lys511Asn)
NM_001080522.2(CC2D2A):c.1537T>A (p.Trp513Arg) rs386833746
NM_001080522.2(CC2D2A):c.1546A>G (p.Met516Val)
NM_001080522.2(CC2D2A):c.1558C>T (p.Arg520Ter) rs781252161
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.1762C>T (p.Gln588Ter)
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.1837G>A (p.Glu613Lys) rs201439617
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.1946C>T (p.Thr649Met) 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.2007G>A (p.Ala669=) rs376644970
NM_001080522.2(CC2D2A):c.2056G>A (p.Val686Met) rs369476930
NM_001080522.2(CC2D2A):c.2090T>C (p.Val697Ala)
NM_001080522.2(CC2D2A):c.2117G>A (p.Arg706Gln) rs778205727
NM_001080522.2(CC2D2A):c.2133G>C (p.Gln711His) rs886059139
NM_001080522.2(CC2D2A):c.2181+7A>C rs143681243
NM_001080522.2(CC2D2A):c.2323G>A (p.Glu775Lys) rs751808973
NM_001080522.2(CC2D2A):c.2326G>A (p.Gly776Arg) rs200764366
NM_001080522.2(CC2D2A):c.2339-10_2339-9del rs886059157
NM_001080522.2(CC2D2A):c.2437G>A (p.Gly813Arg)
NM_001080522.2(CC2D2A):c.2482C>T (p.Arg828Trp) rs749997192
NM_001080522.2(CC2D2A):c.2486+1G>C rs386833747
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.2624C>T (p.Ser875Leu) rs200904521
NM_001080522.2(CC2D2A):c.2625+1G>A
NM_001080522.2(CC2D2A):c.2683C>T (p.Gln895Ter) rs764719093
NM_001080522.2(CC2D2A):c.2687A>C (p.Glu896Ala) rs1553838206
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.2773C>T (p.Arg925Ter) rs386833748
NM_001080522.2(CC2D2A):c.2804G>A (p.Arg935Gln) rs187003641
NM_001080522.2(CC2D2A):c.2844G>A (p.Arg948=) rs182369056
NM_001080522.2(CC2D2A):c.2945G>A (p.Arg982His) rs150093365
NM_001080522.2(CC2D2A):c.3014+4A>C rs748451478
NM_001080522.2(CC2D2A):c.3046G>A (p.Glu1016Lys) rs373960465
NM_001080522.2(CC2D2A):c.3055C>T (p.Arg1019Ter) rs370880399
NM_001080522.2(CC2D2A):c.3084del (p.Lys1029fs) rs386833749
NM_001080522.2(CC2D2A):c.3122_3123del (p.Ile1041fs) rs1560184664
NM_001080522.2(CC2D2A):c.3135G>A (p.Val1045=) rs371608031
NM_001080522.2(CC2D2A):c.3145C>G (p.Arg1049Gly) rs386833750
NM_001080522.2(CC2D2A):c.3145C>T (p.Arg1049Ter) rs386833750
NM_001080522.2(CC2D2A):c.3154G>A (p.Asp1052Asn)
NM_001080522.2(CC2D2A):c.3157A>G (p.Ile1053Val)
NM_001080522.2(CC2D2A):c.3183-8T>C rs13121363
NM_001080522.2(CC2D2A):c.3200C>T (p.Ser1067Leu) rs886059181
NM_001080522.2(CC2D2A):c.3201G>A (p.Ser1067=) rs73125627
NM_001080522.2(CC2D2A):c.3288+3G>A
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001080522.2(CC2D2A):c.3333T>C (p.Val1111=) rs753770061
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.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.3399-3C>A rs386833753
NM_001080522.2(CC2D2A):c.3499G>A (p.Asp1167Asn) rs371998498
NM_001080522.2(CC2D2A):c.3503G>A (p.Arg1168His)
NM_001080522.2(CC2D2A):c.3509G>A (p.Arg1170Lys) rs61734948
NM_001080522.2(CC2D2A):c.3522_3523insTG (p.His1175fs) rs386833754
NM_001080522.2(CC2D2A):c.3524A>G (p.His1175Arg) rs886059184
NM_001080522.2(CC2D2A):c.3544T>C (p.Trp1182Arg) rs386833755
NM_001080522.2(CC2D2A):c.355T>C (p.Leu119=) rs202150325
NM_001080522.2(CC2D2A):c.3567A>G (p.Pro1189=) rs1553841140
NM_001080522.2(CC2D2A):c.3577A>G (p.Ile1193Val) rs188891842
NM_001080522.2(CC2D2A):c.3584del (p.Phe1195fs) rs386833756
NM_001080522.2(CC2D2A):c.3670C>T (p.Arg1224Trp) rs369648324
NM_001080522.2(CC2D2A):c.3689G>A (p.Arg1230Gln) rs778082588
NM_001080522.2(CC2D2A):c.3751G>A (p.Gly1251Arg)
NM_001080522.2(CC2D2A):c.3774dup (p.Glu1259Ter) rs386833757
NM_001080522.2(CC2D2A):c.3779C>T (p.Ser1260Phe) rs759726075
NM_001080522.2(CC2D2A):c.3841T>C (p.Phe1281Leu) rs1560192615
NM_001080522.2(CC2D2A):c.3846A>T (p.Pro1282=) rs372292129
NM_001080522.2(CC2D2A):c.3869T>C (p.Val1290Ala) rs200427832
NM_001080522.2(CC2D2A):c.3872T>C (p.Ile1291Thr) rs370492044
NM_001080522.2(CC2D2A):c.3893T>A (p.Val1298Asp) rs386833758
NM_001080522.2(CC2D2A):c.389G>A (p.Arg130His)
NM_001080522.2(CC2D2A):c.389G>T (p.Arg130Leu) rs778519147
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.4005T>A (p.Ile1335=) rs199688524
NM_001080522.2(CC2D2A):c.4065+9T>C rs748709735
NM_001080522.2(CC2D2A):c.4084dup (p.Ala1362fs)
NM_001080522.2(CC2D2A):c.4098A>C (p.Glu1366Asp) rs557038070
NM_001080522.2(CC2D2A):c.4139G>A (p.Gly1380Asp) rs1271963891
NM_001080522.2(CC2D2A):c.4179+1del rs386833760
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.4345C>G (p.Pro1449Ala) rs375410796
NM_001080522.2(CC2D2A):c.4384T>C (p.Trp1462Arg) rs368720062
NM_001080522.2(CC2D2A):c.4407C>G (p.Ser1469Arg) rs587779732
NM_001080522.2(CC2D2A):c.4437G>C (p.Gln1479His) rs878854168
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.4465_4468del (p.Asp1489fs) rs797045437
NM_001080522.2(CC2D2A):c.4483G>T (p.Glu1495Ter) rs1553845300
NM_001080522.2(CC2D2A):c.4496+2T>A rs386833762
NM_001080522.2(CC2D2A):c.4541G>A (p.Arg1514His)
NM_001080522.2(CC2D2A):c.4550C>T (p.Thr1517Ile)
NM_001080522.2(CC2D2A):c.4552C>T (p.Arg1518Trp)
NM_001080522.2(CC2D2A):c.4600T>G (p.Leu1534Val) rs778858648
NM_001080522.2(CC2D2A):c.4659G>C (p.Gln1553His) rs375083236
NM_001080522.2(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401
NM_001080522.2(CC2D2A):c.4675-12T>G rs769761582
NM_001080522.2(CC2D2A):c.4675-14T>A rs766203266
NM_001080522.2(CC2D2A):c.4682dup (p.Phe1562fs) rs1553845917
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.4852C>T (p.Arg1618Cys) rs201219078
NM_001080522.2(CC2D2A):c.501G>T (p.Lys167Asn) rs190694237
NM_001080522.2(CC2D2A):c.517C>T (p.Arg173Ter) rs386833763
NM_001080522.2(CC2D2A):c.541-5G>A rs369022150
NM_001080522.2(CC2D2A):c.576T>C (p.Tyr192=) rs536646769
NM_001080522.2(CC2D2A):c.650del (p.Gly217fs)
NM_001080522.2(CC2D2A):c.676_678GAA[3] (p.Glu229del) rs386833764
NM_001080522.2(CC2D2A):c.717+11T>C rs184351317
NM_001080522.2(CC2D2A):c.721G>A (p.Glu241Lys) rs62000428
NM_001080522.2(CC2D2A):c.762A>G (p.Leu254=) rs116198081
NM_001080522.2(CC2D2A):c.777C>T (p.His259=) rs2286976
NM_001080522.2(CC2D2A):c.834del (p.Leu279fs) rs386833765
NM_001080522.2(CC2D2A):c.880G>C (p.Val294Leu) rs201986486
NM_001080522.2(CC2D2A):c.964del (p.Val322fs)
NM_001080522.2(CC2D2A):c.970C>T (p.Arg324Cys) rs376969878
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
NM_020785.2(CC2D2A):c.230-6C>T rs1861049
NM_020785.2(CC2D2A):c.262C>T (p.Arg88Ter) rs1861050

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.