ClinVar Miner

List of variants in gene CC2D2A reported as uncertain significance for not provided

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Total variants: 189
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HGVS dbSNP
NM_001080522.2(CC2D2A):c.1017+7G>A rs137919504
NM_001080522.2(CC2D2A):c.1019A>C (p.Glu340Ala) rs1450279703
NM_001080522.2(CC2D2A):c.1024A>C (p.Arg342=) rs1553827158
NM_001080522.2(CC2D2A):c.1041C>T (p.Asp347=) rs371086728
NM_001080522.2(CC2D2A):c.1110G>A (p.Glu370=) rs1289826078
NM_001080522.2(CC2D2A):c.1116C>A (p.Ser372Arg) rs760839591
NM_001080522.2(CC2D2A):c.1140G>A (p.Leu380=)
NM_001080522.2(CC2D2A):c.1222A>G (p.Ile408Val) rs1196012902
NM_001080522.2(CC2D2A):c.1324C>T (p.His442Tyr) rs773421101
NM_001080522.2(CC2D2A):c.1359+10A>G rs373012628
NM_001080522.2(CC2D2A):c.1378G>A (p.Ala460Thr)
NM_001080522.2(CC2D2A):c.1390G>A (p.Gly464Ser) rs1399985089
NM_001080522.2(CC2D2A):c.1392C>A (p.Gly464=)
NM_001080522.2(CC2D2A):c.1418C>T (p.Ser473Phe) rs373177807
NM_001080522.2(CC2D2A):c.1484G>A (p.Arg495His) rs373906628
NM_001080522.2(CC2D2A):c.1497A>G (p.Gln499=)
NM_001080522.2(CC2D2A):c.1546A>G (p.Met516Val)
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.1720T>A (p.Tyr574Asn) rs768277071
NM_001080522.2(CC2D2A):c.1731G>A (p.Ser577=) rs376746356
NM_001080522.2(CC2D2A):c.1773_1775GAA[2] (p.Lys594del) rs886044115
NM_001080522.2(CC2D2A):c.1780A>G (p.Lys594Glu) rs764556903
NM_001080522.2(CC2D2A):c.1817A>T (p.Glu606Val) rs747187783
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.1836C>T (p.Pro612=) rs763567590
NM_001080522.2(CC2D2A):c.1837G>A (p.Glu613Lys) rs201439617
NM_001080522.2(CC2D2A):c.1846C>G (p.Leu616Val) rs1560171700
NM_001080522.2(CC2D2A):c.1866A>C (p.Pro622=) rs1560171734
NM_001080522.2(CC2D2A):c.1880G>A (p.Arg627Gln) rs752576142
NM_001080522.2(CC2D2A):c.1899G>C (p.Glu633Asp) rs886042809
NM_001080522.2(CC2D2A):c.1932G>T (p.Arg644Ser) rs1560171818
NM_001080522.2(CC2D2A):c.1946C>T (p.Thr649Met) rs201884883
NM_001080522.2(CC2D2A):c.1952T>A (p.Val651Asp)
NM_001080522.2(CC2D2A):c.1953C>T (p.Val651=) rs550913315
NM_001080522.2(CC2D2A):c.1956G>A (p.Pro652=) rs375131519
NM_001080522.2(CC2D2A):c.1965C>G (p.Ser655Arg)
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.2016G>A (p.Ser672=)
NM_001080522.2(CC2D2A):c.2039G>A (p.Arg680His) rs200236654
NM_001080522.2(CC2D2A):c.2053A>G (p.Lys685Glu)
NM_001080522.2(CC2D2A):c.2056G>A (p.Val686Met) rs369476930
NM_001080522.2(CC2D2A):c.2061G>A (p.Leu687=) rs182372139
NM_001080522.2(CC2D2A):c.2117G>A (p.Arg706Gln) rs778205727
NM_001080522.2(CC2D2A):c.2163G>A (p.Pro721=) rs768337150
NM_001080522.2(CC2D2A):c.2182-3C>T rs1560177957
NM_001080522.2(CC2D2A):c.2182-9_2182-8delinsAA rs1560177950
NM_001080522.2(CC2D2A):c.2196C>T (p.Val732=)
NM_001080522.2(CC2D2A):c.2197G>A (p.Gly733Arg) rs372259202
NM_001080522.2(CC2D2A):c.2209C>A (p.Pro737Thr) rs1560177991
NM_001080522.2(CC2D2A):c.2251A>G (p.Thr751Ala) rs942868342
NM_001080522.2(CC2D2A):c.2270C>A (p.Ala757Asp)
NM_001080522.2(CC2D2A):c.2319C>T (p.Asp773=) rs1379770755
NM_001080522.2(CC2D2A):c.2326G>A (p.Gly776Arg) rs200764366
NM_001080522.2(CC2D2A):c.2385G>C (p.Leu795=) rs754272410
NM_001080522.2(CC2D2A):c.2387T>G (p.Met796Arg) rs367560550
NM_001080522.2(CC2D2A):c.2400A>G (p.Lys800=) rs371834330
NM_001080522.2(CC2D2A):c.2417C>T (p.Ala806Val) rs769808709
NM_001080522.2(CC2D2A):c.247+448G>A rs1064797307
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.2501C>A (p.Ala834Glu) rs1560180119
NM_001080522.2(CC2D2A):c.2519T>C (p.Ile840Thr) rs373111926
NM_001080522.2(CC2D2A):c.2542A>C (p.Met848Leu) rs376403848
NM_001080522.2(CC2D2A):c.2560T>G (p.Trp854Gly)
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.2653C>A (p.Pro885Thr) rs1560181421
NM_001080522.2(CC2D2A):c.2653C>T (p.Pro885Ser) rs1560181421
NM_001080522.2(CC2D2A):c.274A>G (p.Arg92Gly) rs886043867
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.2813T>C (p.Met938Thr) rs61740537
NM_001080522.2(CC2D2A):c.2844G>A (p.Arg948=) rs182369056
NM_001080522.2(CC2D2A):c.286G>A (p.Ala96Thr) rs376438052
NM_001080522.2(CC2D2A):c.2885A>G (p.Asp962Gly) rs201631131
NM_001080522.2(CC2D2A):c.2891A>G (p.His964Arg) rs1273769297
NM_001080522.2(CC2D2A):c.2900T>C (p.Ile967Thr) rs794727374
NM_001080522.2(CC2D2A):c.2924T>A (p.Val975Asp) rs1560183164
NM_001080522.2(CC2D2A):c.2940A>C (p.Ile980=) rs1560183177
NM_001080522.2(CC2D2A):c.2945G>A (p.Arg982His) rs150093365
NM_001080522.2(CC2D2A):c.2993_2995AAG[2] (p.Glu1000del) rs764874938
NM_001080522.2(CC2D2A):c.3008A>G (p.Asn1003Ser) rs376663620
NM_001080522.2(CC2D2A):c.3020T>C (p.Leu1007Ser) rs1553839640
NM_001080522.2(CC2D2A):c.3046G>A (p.Glu1016Lys) rs373960465
NM_001080522.2(CC2D2A):c.3054G>A (p.Lys1018=) rs377575861
NM_001080522.2(CC2D2A):c.305G>A (p.Gly102Glu)
NM_001080522.2(CC2D2A):c.3072G>A (p.Arg1024=) rs886044669
NM_001080522.2(CC2D2A):c.3113A>T (p.Asp1038Val) rs376913682
NM_001080522.2(CC2D2A):c.3135G>A (p.Val1045=) rs371608031
NM_001080522.2(CC2D2A):c.3141T>C (p.Ile1047=) rs1553839718
NM_001080522.2(CC2D2A):c.3145C>A (p.Arg1049=) rs386833750
NM_001080522.2(CC2D2A):c.3157A>G (p.Ile1053Val)
NM_001080522.2(CC2D2A):c.3176C>A (p.Ala1059Glu)
NM_001080522.2(CC2D2A):c.3198G>A (p.Pro1066=)
NM_001080522.2(CC2D2A):c.3200C>T (p.Ser1067Leu) rs886059181
NM_001080522.2(CC2D2A):c.3228G>A (p.Lys1076=) rs774427183
NM_001080522.2(CC2D2A):c.3250T>A (p.Tyr1084Asn) rs751234041
NM_001080522.2(CC2D2A):c.3258A>C (p.Pro1086=) rs1560186736
NM_001080522.2(CC2D2A):c.3280C>G (p.Leu1094Val)
NM_001080522.2(CC2D2A):c.3289-2del
NM_001080522.2(CC2D2A):c.3320T>G (p.Phe1107Cys) rs886041156
NM_001080522.2(CC2D2A):c.332C>T (p.Ala111Val) rs137878385
NM_001080522.2(CC2D2A):c.3347C>T (p.Thr1116Met) rs267606709
NM_001080522.2(CC2D2A):c.3368G>A (p.Ser1123Asn) rs377404804
NM_001080522.2(CC2D2A):c.3417T>C (p.Tyr1139=)
NM_001080522.2(CC2D2A):c.3480G>T (p.Leu1160=) rs771914973
NM_001080522.2(CC2D2A):c.3495G>A (p.Glu1165=)
NM_001080522.2(CC2D2A):c.3501C>T (p.Asp1167=) rs779304750
NM_001080522.2(CC2D2A):c.3502C>T (p.Arg1168Cys) rs746694614
NM_001080522.2(CC2D2A):c.3503G>A (p.Arg1168His)
NM_001080522.2(CC2D2A):c.351T>G (p.Ser117Arg) rs186264635
NM_001080522.2(CC2D2A):c.3529C>T (p.Arg1177Cys) rs371561652
NM_001080522.2(CC2D2A):c.3536A>T (p.Glu1179Val) rs1560188280
NM_001080522.2(CC2D2A):c.355T>C (p.Leu119=) rs202150325
NM_001080522.2(CC2D2A):c.3577A>G (p.Ile1193Val) rs188891842
NM_001080522.2(CC2D2A):c.3594+5G>A rs863225181
NM_001080522.2(CC2D2A):c.3596T>C (p.Ile1199Thr) rs760918829
NM_001080522.2(CC2D2A):c.3617A>G (p.Asp1206Gly) rs1560189957
NM_001080522.2(CC2D2A):c.3618T>A (p.Asp1206Glu)
NM_001080522.2(CC2D2A):c.3643A>G (p.Ser1215Gly) rs765661601
NM_001080522.2(CC2D2A):c.3652C>A (p.Arg1218=)
NM_001080522.2(CC2D2A):c.3736C>T (p.Pro1246Ser) rs1318619045
NM_001080522.2(CC2D2A):c.3751G>A (p.Gly1251Arg)
NM_001080522.2(CC2D2A):c.3771+1G>C rs1560190091
NM_001080522.2(CC2D2A):c.380G>A (p.Arg127Gln) rs748886997
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.3880A>C (p.Ser1294Arg) rs1064795568
NM_001080522.2(CC2D2A):c.3883G>A (p.Gly1295Arg) rs763466980
NM_001080522.2(CC2D2A):c.388C>T (p.Arg130Cys) rs886042463
NM_001080522.2(CC2D2A):c.389G>A (p.Arg130His)
NM_001080522.2(CC2D2A):c.395G>A (p.Arg132Gln) rs772016081
NM_001080522.2(CC2D2A):c.3975+2dup rs1560192764
NM_001080522.2(CC2D2A):c.3976-18C>G rs375782772
NM_001080522.2(CC2D2A):c.3985G>C (p.Ala1329Pro) rs951039594
NM_001080522.2(CC2D2A):c.4005T>A (p.Ile1335=) rs199688524
NM_001080522.2(CC2D2A):c.415T>C (p.Leu139=) rs570078140
NM_001080522.2(CC2D2A):c.423T>C (p.Thr141=) rs368572539
NM_001080522.2(CC2D2A):c.4296T>C (p.Cys1432=) rs372671421
NM_001080522.2(CC2D2A):c.4303G>A (p.Gly1435Ser)
NM_001080522.2(CC2D2A):c.4334G>A (p.Arg1445Gln) rs113065116
NM_001080522.2(CC2D2A):c.4340A>C (p.Glu1447Ala) rs387907058
NM_001080522.2(CC2D2A):c.438G>A (p.Glu146=) rs1215345163
NM_001080522.2(CC2D2A):c.4438C>T (p.Pro1480Ser) rs794727589
NM_001080522.2(CC2D2A):c.4460G>A (p.Arg1487His)
NM_001080522.2(CC2D2A):c.4497G>C (p.Arg1499Ser) rs1482342015
NM_001080522.2(CC2D2A):c.4512A>G (p.Leu1504=)
NM_001080522.2(CC2D2A):c.4541G>A (p.Arg1514His)
NM_001080522.2(CC2D2A):c.4553G>A (p.Arg1518Gln)
NM_001080522.2(CC2D2A):c.4583G>A (p.Arg1528His)
NM_001080522.2(CC2D2A):c.4648C>T (p.Leu1550=) rs199861496
NM_001080522.2(CC2D2A):c.4659G>C (p.Gln1553His) rs375083236
NM_001080522.2(CC2D2A):c.4728C>T (p.Asp1576=)
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.4815T>C (p.Asn1605=)
NM_001080522.2(CC2D2A):c.4838T>C (p.Val1613Ala) rs769264337
NM_001080522.2(CC2D2A):c.4853G>A (p.Arg1618His)
NM_001080522.2(CC2D2A):c.4858A>C (p.Arg1620=) rs774187754
NM_001080522.2(CC2D2A):c.4863A>T (p.Ter1621Tyr) rs1553845963
NM_001080522.2(CC2D2A):c.541-5G>A rs369022150
NM_001080522.2(CC2D2A):c.565G>A (p.Glu189Lys) rs1560157691
NM_001080522.2(CC2D2A):c.579C>G (p.Asn193Lys)
NM_001080522.2(CC2D2A):c.603C>T (p.Pro201=) rs556542553
NM_001080522.2(CC2D2A):c.613G>A (p.Gly205Arg) rs147499316
NM_001080522.2(CC2D2A):c.644G>T (p.Arg215Ile) rs756061892
NM_001080522.2(CC2D2A):c.663_665GGA[2] (p.Glu224del) rs1553825978
NM_001080522.2(CC2D2A):c.751G>A (p.Glu251Lys)
NM_001080522.2(CC2D2A):c.832C>T (p.Arg278Trp) rs372873919
NM_001080522.2(CC2D2A):c.868A>T (p.Ser290Cys) rs1553826739
NM_001080522.2(CC2D2A):c.880+7G>A rs1445614932
NM_001080522.2(CC2D2A):c.881-8C>T
NM_001080522.2(CC2D2A):c.949G>A (p.Gly317Arg)
NM_001080522.2(CC2D2A):c.950G>T (p.Gly317Val)
NM_001080522.2(CC2D2A):c.970C>T (p.Arg324Cys) rs376969878
NM_001080522.2(CC2D2A):c.971G>A (p.Arg324His) rs113371687
NM_001080522.2(CC2D2A):c.977A>G (p.Asn326Ser) rs1425158863
NM_020785.2(CC2D2A):c.101G>A (p.Arg34Gln) rs756008877
NM_020785.2(CC2D2A):c.108G>A (p.Gln36=) rs886044284
NM_020785.2(CC2D2A):c.263G>A (p.Arg88Gln) rs373080748
NM_020785.2(CC2D2A):c.271C>G (p.Pro91Ala) rs794727713
NM_020785.2(CC2D2A):c.298G>A (p.Ala100Thr) rs745986665
NM_020785.2(CC2D2A):c.349A>G (p.Thr117Ala)
NM_020785.2(CC2D2A):c.7C>A (p.Pro3Thr)

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