ClinVar Miner

List of variants in gene CC2D2A reported by Invitae

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 227
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HGVS dbSNP
NC_000004.11:g.(?_15477537)_(15603068_?)del
NC_000004.12:g.(?_15478723)_(15480827_?)del
NC_000004.12:g.(?_15540837)_(15541014_?)del
NM_001080522.2(CC2D2A):c.1000T>C (p.Leu334=) rs780534369
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) rs751436798
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.1341G>A (p.Ala447=) rs376651324
NM_001080522.2(CC2D2A):c.1359+10A>G rs373012628
NM_001080522.2(CC2D2A):c.1359+9G>T rs369964702
NM_001080522.2(CC2D2A):c.1392C>A (p.Gly464=) rs755258233
NM_001080522.2(CC2D2A):c.1484G>A (p.Arg495His) rs373906628
NM_001080522.2(CC2D2A):c.1506T>C (p.Asp502=) rs765072025
NM_001080522.2(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937
NM_001080522.2(CC2D2A):c.1533A>T (p.Lys511Asn) rs1577354625
NM_001080522.2(CC2D2A):c.1546A>G (p.Met516Val) rs751646059
NM_001080522.2(CC2D2A):c.1558C>T (p.Arg520Ter) rs781252161
NM_001080522.2(CC2D2A):c.1598T>C (p.Val533Ala) rs777351655
NM_001080522.2(CC2D2A):c.1689C>T (p.His563=) rs755367503
NM_001080522.2(CC2D2A):c.1691C>T (p.Thr564Met) rs201954181
NM_001080522.2(CC2D2A):c.1821T>C (p.Ile607=) rs373296447
NM_001080522.2(CC2D2A):c.1829C>T (p.Pro610Leu) rs376457814
NM_001080522.2(CC2D2A):c.1830G>A (p.Pro610=) rs185072004
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.1952T>A (p.Val651Asp) rs762298895
NM_001080522.2(CC2D2A):c.1956G>A (p.Pro652=) rs375131519
NM_001080522.2(CC2D2A):c.1978G>A (p.Val660Ile) rs16892134
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.2039G>A (p.Arg680His) rs200236654
NM_001080522.2(CC2D2A):c.2050T>A (p.Leu684Ile) rs190698163
NM_001080522.2(CC2D2A):c.2053A>G (p.Lys685Glu) rs879877075
NM_001080522.2(CC2D2A):c.2056G>A (p.Val686Met) rs369476930
NM_001080522.2(CC2D2A):c.2079G>A (p.Val693=) rs1348040937
NM_001080522.2(CC2D2A):c.2083A>C (p.Arg695=) rs750219979
NM_001080522.2(CC2D2A):c.2090T>C (p.Val697Ala) rs766282869
NM_001080522.2(CC2D2A):c.2117G>A (p.Arg706Gln) rs778205727
NM_001080522.2(CC2D2A):c.2161C>T (p.Pro721Ser) rs199768782
NM_001080522.2(CC2D2A):c.2181+3A>G
NM_001080522.2(CC2D2A):c.2181+7A>C rs143681243
NM_001080522.2(CC2D2A):c.2181+9T>C rs1577360769
NM_001080522.2(CC2D2A):c.2182-8G>A rs370731685
NM_001080522.2(CC2D2A):c.2182-9G>A rs376312792
NM_001080522.2(CC2D2A):c.2197G>A (p.Gly733Arg) rs372259202
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.2397G>A (p.Gly799=) rs1577370765
NM_001080522.2(CC2D2A):c.2437G>A (p.Gly813Arg) rs375167917
NM_001080522.2(CC2D2A):c.2475C>T (p.Ile825=) rs113835820
NM_001080522.2(CC2D2A):c.2482C>T (p.Arg828Trp) rs749997192
NM_001080522.2(CC2D2A):c.2483G>A (p.Arg828Gln) rs375243763
NM_001080522.2(CC2D2A):c.2597A>G (p.Asn866Ser) rs199563573
NM_001080522.2(CC2D2A):c.2625+1G>A rs1577372471
NM_001080522.2(CC2D2A):c.2687A>C (p.Glu896Ala) rs1553838206
NM_001080522.2(CC2D2A):c.2774G>A (p.Arg925Gln) rs200707391
NM_001080522.2(CC2D2A):c.2780A>C (p.Tyr927Ser) rs915290953
NM_001080522.2(CC2D2A):c.2804G>A (p.Arg935Gln) rs187003641
NM_001080522.2(CC2D2A):c.2813T>C (p.Met938Thr) rs61740537
NM_001080522.2(CC2D2A):c.2844G>A (p.Arg948=) rs182369056
NM_001080522.2(CC2D2A):c.2904A>T (p.Val968=) rs1457559560
NM_001080522.2(CC2D2A):c.2945G>A (p.Arg982His) rs150093365
NM_001080522.2(CC2D2A):c.2994A>G (p.Glu998=) rs1044670589
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.3084G>C (p.Arg1028=) rs373698524
NM_001080522.2(CC2D2A):c.3084del (p.Lys1029fs) rs386833749
NM_001080522.2(CC2D2A):c.3113A>T (p.Asp1038Val) rs376913682
NM_001080522.2(CC2D2A):c.3114T>C (p.Asp1038=) rs781371086
NM_001080522.2(CC2D2A):c.3145C>A (p.Arg1049=) rs386833750
NM_001080522.2(CC2D2A):c.3145C>T (p.Arg1049Ter) rs386833750
NM_001080522.2(CC2D2A):c.3154G>A (p.Asp1052Asn) rs1055487228
NM_001080522.2(CC2D2A):c.3157A>G (p.Ile1053Val) rs148194457
NM_001080522.2(CC2D2A):c.3183-1G>T
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.3280C>G (p.Leu1094Val) rs200518703
NM_001080522.2(CC2D2A):c.3288+3G>A rs372903309
NM_001080522.2(CC2D2A):c.3288G>C (p.Gln1096His) rs863225169
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001080522.2(CC2D2A):c.3333T>C (p.Val1111=) rs753770061
NM_001080522.2(CC2D2A):c.333G>A (p.Ala111=) rs200273579
NM_001080522.2(CC2D2A):c.3480G>T (p.Leu1160=) rs771914973
NM_001080522.2(CC2D2A):c.3503G>A (p.Arg1168His) rs375344007
NM_001080522.2(CC2D2A):c.3509G>A (p.Arg1170Lys) rs61734948
NM_001080522.2(CC2D2A):c.351T>G (p.Ser117Arg) rs186264635
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.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.3689G>A (p.Arg1230Gln) rs778082588
NM_001080522.2(CC2D2A):c.3744_3747dup (p.Pro1250fs) rs863225171
NM_001080522.2(CC2D2A):c.3751G>A (p.Gly1251Arg) rs368180778
NM_001080522.2(CC2D2A):c.3779C>T (p.Ser1260Phe) rs759726075
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.389G>A (p.Arg130His) 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.3989G>A (p.Arg1330Gln) rs763486732
NM_001080522.2(CC2D2A):c.4005T>A (p.Ile1335=) rs199688524
NM_001080522.2(CC2D2A):c.4065+9T>C rs748709735
NM_001080522.2(CC2D2A):c.4066-5G>T rs1355004331
NM_001080522.2(CC2D2A):c.4080C>T (p.Leu1360=) rs777093551
NM_001080522.2(CC2D2A):c.4084dup (p.Ala1362fs) rs1313708855
NM_001080522.2(CC2D2A):c.4139G>A (p.Gly1380Asp) rs1271963891
NM_001080522.2(CC2D2A):c.415T>C (p.Leu139=) rs570078140
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.438+1G>A
NM_001080522.2(CC2D2A):c.439-9C>T rs747673081
NM_001080522.2(CC2D2A):c.4437G>C (p.Gln1479His) rs878854168
NM_001080522.2(CC2D2A):c.4438-9C>A rs117667651
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.4518A>G (p.Glu1506=) rs772272007
NM_001080522.2(CC2D2A):c.4541G>A (p.Arg1514His) rs368191427
NM_001080522.2(CC2D2A):c.4550C>T (p.Thr1517Ile) rs780673487
NM_001080522.2(CC2D2A):c.4552C>T (p.Arg1518Trp) rs767260373
NM_001080522.2(CC2D2A):c.4553G>A (p.Arg1518Gln) rs200645738
NM_001080522.2(CC2D2A):c.4600T>G (p.Leu1534Val) rs778858648
NM_001080522.2(CC2D2A):c.4648C>T (p.Leu1550=) rs199861496
NM_001080522.2(CC2D2A):c.4682dup (p.Phe1562fs) rs1553845917
NM_001080522.2(CC2D2A):c.4729G>A (p.Ala1577Thr) rs199695154
NM_001080522.2(CC2D2A):c.4809C>G (p.Pro1603=) rs367841700
NM_001080522.2(CC2D2A):c.4844_4847del rs863225175
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.541-1G>A
NM_001080522.2(CC2D2A):c.541-5G>A rs369022150
NM_001080522.2(CC2D2A):c.576T>C (p.Tyr192=) rs536646769
NM_001080522.2(CC2D2A):c.613G>A (p.Gly205Arg) rs147499316
NM_001080522.2(CC2D2A):c.647C>T (p.Ala216Val) rs768733110
NM_001080522.2(CC2D2A):c.648G>A (p.Ala216=) rs1415780433
NM_001080522.2(CC2D2A):c.650del (p.Gly217fs) rs746415983
NM_001080522.2(CC2D2A):c.721G>A (p.Glu241Lys) rs62000428
NM_001080522.2(CC2D2A):c.751G>A (p.Glu251Lys) rs374554530
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.832C>T (p.Arg278Trp) rs372873919
NM_001080522.2(CC2D2A):c.922T>C (p.Phe308Leu) rs201465430
NM_001080522.2(CC2D2A):c.964del (p.Val322fs) rs1577340510
NM_001080522.2(CC2D2A):c.970C>T (p.Arg324Cys) rs376969878
NM_001080522.2(CC2D2A):c.981G>A (p.Gln327=) rs556015115
NM_001378615.1(CC2D2A):c.1123G>C (p.Ala375Pro)
NM_001378615.1(CC2D2A):c.1179T>G (p.His393Gln)
NM_001378615.1(CC2D2A):c.1340C>T (p.Ala447Val)
NM_001378615.1(CC2D2A):c.1466+3G>A
NM_001378615.1(CC2D2A):c.1466G>A (p.Arg489Gln)
NM_001378615.1(CC2D2A):c.1483C>T (p.Arg495Cys)
NM_001378615.1(CC2D2A):c.149T>A (p.Met50Lys)
NM_001378615.1(CC2D2A):c.1511C>T (p.Thr504Ile)
NM_001378615.1(CC2D2A):c.1553C>A (p.Ser518Tyr)
NM_001378615.1(CC2D2A):c.1621C>A (p.Gln541Lys)
NM_001378615.1(CC2D2A):c.1693GAG[1] (p.Glu566del)
NM_001378615.1(CC2D2A):c.1702G>A (p.Ala568Thr)
NM_001378615.1(CC2D2A):c.1766G>A (p.Arg589Lys)
NM_001378615.1(CC2D2A):c.1799A>C (p.Glu600Ala)
NM_001378615.1(CC2D2A):c.1804C>T (p.His602Tyr)
NM_001378615.1(CC2D2A):c.1810G>A (p.Gly604Ser)
NM_001378615.1(CC2D2A):c.1820T>C (p.Ile607Thr)
NM_001378615.1(CC2D2A):c.1850T>C (p.Val617Ala)
NM_001378615.1(CC2D2A):c.1994A>G (p.Gln665Arg)
NM_001378615.1(CC2D2A):c.2006C>A (p.Ala669Glu)
NM_001378615.1(CC2D2A):c.2041T>A (p.Ser681Thr)
NM_001378615.1(CC2D2A):c.2222_2229dup (p.Phe744fs)
NM_001378615.1(CC2D2A):c.2452C>A (p.Pro818Thr)
NM_001378615.1(CC2D2A):c.2456C>A (p.Pro819Gln)
NM_001378615.1(CC2D2A):c.247+1G>A
NM_001378615.1(CC2D2A):c.2476G>A (p.Gly826Arg)
NM_001378615.1(CC2D2A):c.2516C>T (p.Ser839Phe)
NM_001378615.1(CC2D2A):c.2625G>A (p.Ser875=)
NM_001378615.1(CC2D2A):c.2669T>G (p.Leu890Arg)
NM_001378615.1(CC2D2A):c.2736G>C (p.Arg912Ser)
NM_001378615.1(CC2D2A):c.275G>A (p.Arg92Lys)
NM_001378615.1(CC2D2A):c.2774G>C (p.Arg925Pro)
NM_001378615.1(CC2D2A):c.2843G>A (p.Arg948Gln)
NM_001378615.1(CC2D2A):c.2902G>A (p.Val968Ile)
NM_001378615.1(CC2D2A):c.2993AAG[1] (p.Glu999_Glu1000del)
NM_001378615.1(CC2D2A):c.3014G>A (p.Ser1005Asn)
NM_001378615.1(CC2D2A):c.3017T>A (p.Ile1006Asn)
NM_001378615.1(CC2D2A):c.3065G>A (p.Arg1022Gln)
NM_001378615.1(CC2D2A):c.3140T>C (p.Ile1047Thr)
NM_001378615.1(CC2D2A):c.3157A>C (p.Ile1053Leu)
NM_001378615.1(CC2D2A):c.3160C>T (p.Pro1054Ser)
NM_001378615.1(CC2D2A):c.3263A>C (p.His1088Pro)
NM_001378615.1(CC2D2A):c.3283G>A (p.Gly1095Ser)
NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter)
NM_001378615.1(CC2D2A):c.3610A>C (p.Lys1204Gln)
NM_001378615.1(CC2D2A):c.3805G>A (p.Ala1269Thr)
NM_001378615.1(CC2D2A):c.3856T>C (p.Cys1286Arg)
NM_001378615.1(CC2D2A):c.3929C>T (p.Pro1310Leu)
NM_001378615.1(CC2D2A):c.3976-3C>T
NM_001378615.1(CC2D2A):c.4022C>G (p.Thr1341Ser)
NM_001378615.1(CC2D2A):c.4066-1G>A
NM_001378615.1(CC2D2A):c.4067A>G (p.Gln1356Arg)
NM_001378615.1(CC2D2A):c.4233T>A (p.Asn1411Lys)
NM_001378615.1(CC2D2A):c.4526T>C (p.Met1509Thr)
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401
NM_001378615.1(CC2D2A):c.4690C>T (p.Leu1564Phe)
NM_001378615.1(CC2D2A):c.4747G>A (p.Val1583Ile)
NM_001378615.1(CC2D2A):c.4763T>C (p.Val1588Ala)
NM_001378615.1(CC2D2A):c.4852C>A (p.Arg1618Ser)
NM_001378615.1(CC2D2A):c.503T>C (p.Phe168Ser)
NM_001378615.1(CC2D2A):c.518G>A (p.Arg173Gln)
NM_001378615.1(CC2D2A):c.541G>A (p.Val181Ile)
NM_001378615.1(CC2D2A):c.56A>T (p.Asp19Val)
NM_001378615.1(CC2D2A):c.58G>A (p.Glu20Lys)
NM_001378615.1(CC2D2A):c.676_678GAA[3] (p.Glu229del) rs386833764
NM_001378615.1(CC2D2A):c.695C>A (p.Ala232Glu)
NM_001378615.1(CC2D2A):c.708A>T (p.Gly236=)
NM_001378615.1(CC2D2A):c.833G>A (p.Arg278Gln)
NM_001378615.1(CC2D2A):c.941_943delinsC (p.Leu314fs)
NM_020785.2(CC2D2A):c.230-6C>T rs1861049
NM_020785.2(CC2D2A):c.262C>T (p.Arg88Ter) rs1861050
NM_020785.2(CC2D2A):c.305del (p.Gly102fs) rs1433294475

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