ClinVar Miner

List of variants in gene CD2AP studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 236
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012120.3(CD2AP):c.1204C>T (p.Leu402=) rs2039503 0.98009
NM_012120.3(CD2AP):c.-54T>A rs9349406 0.96104
NM_012120.3(CD2AP):c.320-113C>T rs6915993 0.60751
NM_012120.3(CD2AP):c.420+148C>T rs6916578 0.60730
NM_012120.3(CD2AP):c.1045+309G>T rs1352029 0.60726
NM_012120.3(CD2AP):c.1814+24G>A rs9395287 0.60710
NM_012120.3(CD2AP):c.1531-266G>A rs923146 0.60709
NM_012120.3(CD2AP):c.903+219C>T rs978448 0.60701
NM_012120.3(CD2AP):c.1108+82T>C rs2275446 0.60692
NM_012120.3(CD2AP):c.542-303T>G rs9369715 0.60658
NM_012120.3(CD2AP):c.421-25G>A rs9473132 0.60583
NM_012120.3(CD2AP):c.*496A>G rs9463343 0.45596
NM_012120.3(CD2AP):c.1046-153A>T rs6926592 0.33095
NM_012120.3(CD2AP):c.1045+36C>A rs1014001 0.31115
NM_012120.3(CD2AP):c.1046-244C>T rs9357546 0.27448
NM_012120.3(CD2AP):c.1531-331T>C rs9395286 0.26878
NM_012120.3(CD2AP):c.1417+259C>G rs11758792 0.24629
NM_012120.3(CD2AP):c.1814+231A>G rs13200694 0.23594
NM_012120.3(CD2AP):c.*498A>G rs36077218 0.21317
NM_012120.3(CD2AP):c.1046-110A>G rs3818866 0.19645
NM_012120.3(CD2AP):c.1530+219T>A rs115612698 0.05261
NM_012120.3(CD2AP):c.1009-277T>C rs12203295 0.04481
NM_012120.3(CD2AP):c.1418-222C>T rs10223830 0.03172
NM_012120.3(CD2AP):c.1275-20G>A rs9473135 0.03171
NM_012120.3(CD2AP):c.1531-33A>G rs75839544 0.02946
NM_012120.3(CD2AP):c.319+79T>C rs114889123 0.01680
NM_012120.3(CD2AP):c.1814+89G>A rs78312512 0.01578
NM_012120.3(CD2AP):c.1815-267A>C rs78868534 0.01572
NM_012120.3(CD2AP):c.730-202A>G rs113186443 0.01572
NM_012120.3(CD2AP):c.1632+8G>T rs77917916 0.01414
NM_012120.3(CD2AP):c.1275-61C>T rs79393209 0.01332
NM_012120.3(CD2AP):c.1743T>A (p.Asn581Lys) rs34069459 0.01173
NM_012120.3(CD2AP):c.1045+285A>T rs79622981 0.01167
NM_012120.3(CD2AP):c.903+161G>A rs145186807 0.00947
NM_012120.3(CD2AP):c.*452C>G rs183129840 0.00945
NM_012120.3(CD2AP):c.696C>T (p.Ser232=) rs140627775 0.00876
NM_012120.3(CD2AP):c.1008+274T>C rs115557965 0.00847
NM_012120.3(CD2AP):c.1878+272G>A rs116070424 0.00845
NM_012120.3(CD2AP):c.1009-300T>G rs80109522 0.00844
NM_012120.3(CD2AP):c.1898A>G (p.Lys633Arg) rs116754410 0.00844
NM_012120.3(CD2AP):c.219A>G (p.Glu73=) rs7749045 0.00843
NM_012120.3(CD2AP):c.541+149G>A rs115706515 0.00581
NM_012120.3(CD2AP):c.319+156A>G rs149512334 0.00474
NM_012120.3(CD2AP):c.541+173del rs371434430 0.00474
NM_012120.3(CD2AP):c.730-66A>G rs141402367 0.00474
NM_012120.3(CD2AP):c.42T>C (p.His14=) rs34773184 0.00472
NM_012120.3(CD2AP):c.1035T>A (p.Ala345=) rs34023453 0.00471
NM_012120.3(CD2AP):c.1632+111A>G rs145095901 0.00449
NM_012120.3(CD2AP):c.1878+77G>A rs149649083 0.00445
NM_012120.3(CD2AP):c.1274+36T>G rs144969474 0.00429
NM_012120.3(CD2AP):c.904-203T>C rs114590237 0.00394
NM_012120.3(CD2AP):c.*494G>A rs867559785 0.00352
NM_012120.3(CD2AP):c.1120A>G (p.Thr374Ala) rs138727736 0.00324
NM_012120.3(CD2AP):c.447C>T (p.Thr149=) rs145518596 0.00268
NM_012120.3(CD2AP):c.809-11C>A rs76153148 0.00230
NM_012120.3(CD2AP):c.4+16G>A rs370143870 0.00193
NM_012120.3(CD2AP):c.*319A>C rs532632702 0.00166
NM_012120.3(CD2AP):c.1014A>G (p.Pro338=) rs150304098 0.00113
NM_012120.3(CD2AP):c.1181C>A (p.Pro394Gln) rs141881558 0.00098
NM_012120.3(CD2AP):c.1673C>T (p.Ala558Val) rs146444716 0.00074
NM_012120.3(CD2AP):c.992T>A (p.Leu331His) rs140188898 0.00074
NM_012120.3(CD2AP):c.1530+12T>G rs201842906 0.00072
NM_012120.3(CD2AP):c.1530+20G>A rs185360746 0.00071
NM_012120.3(CD2AP):c.-130C>G rs886061516 0.00060
NM_012120.3(CD2AP):c.164A>C (p.Lys55Thr) rs151118470 0.00053
NM_012120.3(CD2AP):c.-166A>G rs1003986342 0.00042
NM_012120.3(CD2AP):c.1633-27T>C rs373623749 0.00039
NM_012120.3(CD2AP):c.636A>T (p.Arg212=) rs146010044 0.00039
NM_012120.3(CD2AP):c.1696C>T (p.Pro566Ser) rs372234258 0.00038
NM_012120.3(CD2AP):c.1274+3A>G rs369536196 0.00036
NM_012120.3(CD2AP):c.1580G>A (p.Ser527Asn) rs142570426 0.00031
NM_012120.3(CD2AP):c.553G>T (p.Ala185Ser) rs142643033 0.00026
NM_012120.3(CD2AP):c.165+13A>G rs368408367 0.00024
NM_012120.3(CD2AP):c.1711G>A (p.Ala571Thr) rs140800708 0.00024
NM_012120.3(CD2AP):c.1812C>T (p.His604=) rs140391156 0.00021
NM_012120.3(CD2AP):c.682C>T (p.Arg228Trp) rs150851309 0.00021
NM_012120.3(CD2AP):c.276T>C (p.Ala92=) rs138428273 0.00016
NM_012120.3(CD2AP):c.1417+19C>T rs185609509 0.00015
NM_012120.3(CD2AP):c.1488G>A (p.Met496Ile) rs143297472 0.00015
NM_012120.3(CD2AP):c.26A>G (p.Asp9Gly) rs367952819 0.00012
NM_012120.3(CD2AP):c.1641G>A (p.Val547=) rs375173164 0.00011
NM_012120.3(CD2AP):c.182C>T (p.Thr61Met) rs142628238 0.00011
NM_012120.3(CD2AP):c.730-4C>T rs370335632 0.00011
NM_012120.3(CD2AP):c.5-20G>A rs3756935 0.00010
NM_012120.3(CD2AP):c.551T>C (p.Leu184Ser) rs138163915 0.00009
NM_012120.3(CD2AP):c.730-7A>G rs368514132 0.00009
NM_012120.3(CD2AP):c.792C>T (p.Thr264=) rs144912461 0.00009
NM_012120.3(CD2AP):c.902A>T (p.Lys301Met) rs141778404 0.00009
NM_012120.3(CD2AP):c.1531-15T>A rs200506346 0.00006
NM_012120.3(CD2AP):c.1633-8G>A rs371517849 0.00006
NM_012120.3(CD2AP):c.705A>G (p.Glu235=) rs781129940 0.00006
NM_012120.3(CD2AP):c.1756C>T (p.Leu586Phe) rs368150114 0.00004
NM_012120.3(CD2AP):c.311T>A (p.Ile104Asn) rs149246024 0.00004
NM_012120.3(CD2AP):c.730C>T (p.Pro244Ser) rs757507978 0.00004
NM_012120.3(CD2AP):c.1046-5C>T rs371140357 0.00003
NM_012120.3(CD2AP):c.837C>T (p.Ala279=) rs765258692 0.00003
NM_012120.3(CD2AP):c.1834C>T (p.Arg612Ter) rs267606710 0.00002
NM_012120.3(CD2AP):c.221G>T (p.Arg74Met) rs758523796 0.00002
NM_012120.3(CD2AP):c.770T>C (p.Val257Ala) rs1279052773 0.00002
NM_012120.3(CD2AP):c.1045+14A>G rs939956642 0.00001
NM_012120.3(CD2AP):c.1046-4A>G rs368742780 0.00001
NM_012120.3(CD2AP):c.1052A>G (p.Lys351Arg) rs1335565298 0.00001
NM_012120.3(CD2AP):c.1159G>A (p.Val387Ile) rs1316385249 0.00001
NM_012120.3(CD2AP):c.1288G>T (p.Val430Phe) rs764233188 0.00001
NM_012120.3(CD2AP):c.1334T>C (p.Leu445Pro) rs748941769 0.00001
NM_012120.3(CD2AP):c.4+9C>G rs1561995493 0.00001
NM_012120.3(CD2AP):c.521A>C (p.His174Pro) rs762020246 0.00001
NM_012120.3(CD2AP):c.764dup (p.Ser256fs) rs776297606 0.00001
NM_012120.3(CD2AP):c.802A>T (p.Ile268Phe) rs759309620 0.00001
NC_000006.11:g.(?_47471016)_(47471176_?)del
NC_000006.11:g.(?_47564630)_(47567630_?)del
NM_012120.3(CD2AP):c.*452_*455del rs886061524
NM_012120.3(CD2AP):c.*454GT[19] rs60486147
NM_012120.3(CD2AP):c.*454GT[20] rs60486147
NM_012120.3(CD2AP):c.*454GT[23] rs60486147
NM_012120.3(CD2AP):c.*494_*503del rs777904165
NM_012120.3(CD2AP):c.*496AT[5] rs71538327
NM_012120.3(CD2AP):c.*496AT[7] rs71538327
NM_012120.3(CD2AP):c.1006C>T (p.Pro336Ser)
NM_012120.3(CD2AP):c.1008+15T>C
NM_012120.3(CD2AP):c.1008+16T>C
NM_012120.3(CD2AP):c.1008+16del rs755425767
NM_012120.3(CD2AP):c.1045+7A>G
NM_012120.3(CD2AP):c.1046-7C>G
NM_012120.3(CD2AP):c.1046-7C>T rs779122248
NM_012120.3(CD2AP):c.1099G>A (p.Glu367Lys)
NM_012120.3(CD2AP):c.1107G>T (p.Lys369Asn)
NM_012120.3(CD2AP):c.1108G>C (p.Asp370His)
NM_012120.3(CD2AP):c.1109-3T>A
NM_012120.3(CD2AP):c.1155A>G (p.Pro385=)
NM_012120.3(CD2AP):c.1167C>G (p.Pro389=)
NM_012120.3(CD2AP):c.1188C>G (p.Thr396=) rs147254896
NM_012120.3(CD2AP):c.1192G>A (p.Ala398Thr)
NM_012120.3(CD2AP):c.1210TCT[1] (p.Ser405del)
NM_012120.3(CD2AP):c.1229C>T (p.Pro410Leu)
NM_012120.3(CD2AP):c.1233G>A (p.Lys411=)
NM_012120.3(CD2AP):c.1254T>C (p.Pro418=) rs2114131367
NM_012120.3(CD2AP):c.1268T>C (p.Ile423Thr)
NM_012120.3(CD2AP):c.1274+10A>G
NM_012120.3(CD2AP):c.1275-11dup rs569215676
NM_012120.3(CD2AP):c.1280A>G (p.Asn427Ser)
NM_012120.3(CD2AP):c.1286_1288dup (p.Glu429dup) rs773241556
NM_012120.3(CD2AP):c.1297A>G (p.Ile433Val)
NM_012120.3(CD2AP):c.1329A>G (p.Ser443=)
NM_012120.3(CD2AP):c.1345T>C (p.Ser449Pro) rs1769048619
NM_012120.3(CD2AP):c.1353G>C (p.Gln451His) rs1769049212
NM_012120.3(CD2AP):c.1358C>T (p.Pro453Leu)
NM_012120.3(CD2AP):c.1375G>A (p.Val459Ile) rs774081495
NM_012120.3(CD2AP):c.1375G>C (p.Val459Leu)
NM_012120.3(CD2AP):c.1386_1387del (p.Ser463fs)
NM_012120.3(CD2AP):c.1418-178del rs201291952
NM_012120.3(CD2AP):c.1418-322dup rs370986681
NM_012120.3(CD2AP):c.142A>G (p.Met48Val)
NM_012120.3(CD2AP):c.1438A>G (p.Ile480Val)
NM_012120.3(CD2AP):c.1509C>T (p.Gly503=)
NM_012120.3(CD2AP):c.1530+20G>C
NM_012120.3(CD2AP):c.1531-9A>C rs2114147817
NM_012120.3(CD2AP):c.1546G>A (p.Glu516Lys)
NM_012120.3(CD2AP):c.1569AGA[2] (p.Glu525del) rs545551160
NM_012120.3(CD2AP):c.1583C>T (p.Ala528Val)
NM_012120.3(CD2AP):c.1594C>T (p.Pro532Ser) rs1332219962
NM_012120.3(CD2AP):c.1596A>G (p.Pro532=)
NM_012120.3(CD2AP):c.160G>A (p.Val54Ile)
NM_012120.3(CD2AP):c.1612G>T (p.Asp538Tyr)
NM_012120.3(CD2AP):c.1632+89G>T rs114654393
NM_012120.3(CD2AP):c.1633-10A>T rs753847051
NM_012120.3(CD2AP):c.1633-6T>A rs886061522
NM_012120.3(CD2AP):c.1633-8G>T rs371517849
NM_012120.3(CD2AP):c.1633-9C>T rs757387681
NM_012120.3(CD2AP):c.1636T>C (p.Ser546Pro)
NM_012120.3(CD2AP):c.165+17A>G
NM_012120.3(CD2AP):c.1681A>G (p.Thr561Ala)
NM_012120.3(CD2AP):c.1727A>G (p.Asp576Gly)
NM_012120.3(CD2AP):c.1746C>T (p.Ser582=)
NM_012120.3(CD2AP):c.1772T>C (p.Ile591Thr)
NM_012120.3(CD2AP):c.1814+225_1814+227del rs10580796
NM_012120.3(CD2AP):c.1814+225_1814+227dup rs10580796
NM_012120.3(CD2AP):c.1814+227del rs10580796
NM_012120.3(CD2AP):c.1814+227dup rs10580796
NM_012120.3(CD2AP):c.1814+228_1814+229del rs1491059125
NM_012120.3(CD2AP):c.1814+4A>G
NM_012120.3(CD2AP):c.1830A>C (p.Lys610Asn)
NM_012120.3(CD2AP):c.1835G>A (p.Arg612Gln)
NM_012120.3(CD2AP):c.1879-16A>C
NM_012120.3(CD2AP):c.1879-66T>C rs10948368
NM_012120.3(CD2AP):c.261C>G (p.Thr87=)
NM_012120.3(CD2AP):c.279A>G (p.Gly93=) rs2114026068
NM_012120.3(CD2AP):c.29A>G (p.Tyr10Cys)
NM_012120.3(CD2AP):c.319+20C>A
NM_012120.3(CD2AP):c.323C>T (p.Thr108Ile) rs1767317688
NM_012120.3(CD2AP):c.332G>A (p.Arg111His)
NM_012120.3(CD2AP):c.357C>T (p.Tyr119=) rs2114045264
NM_012120.3(CD2AP):c.363A>G (p.Pro121=)
NM_012120.3(CD2AP):c.373G>A (p.Asp125Asn)
NM_012120.3(CD2AP):c.4+262T>G rs13214158
NM_012120.3(CD2AP):c.4+7_4+8del
NM_012120.3(CD2AP):c.400_401delinsGA (p.Ile134Asp) rs2114045375
NM_012120.3(CD2AP):c.421-5T>C
NM_012120.3(CD2AP):c.428_429delinsGC (p.Glu143Gly)
NM_012120.3(CD2AP):c.474C>T (p.Pro158=)
NM_012120.3(CD2AP):c.479A>C (p.Asn160Thr)
NM_012120.3(CD2AP):c.494del (p.Glu164_Leu165insTer)
NM_012120.3(CD2AP):c.541+19T>A
NM_012120.3(CD2AP):c.560C>T (p.Pro187Leu) rs864622037
NM_012120.3(CD2AP):c.578C>T (p.Ser193Phe)
NM_012120.3(CD2AP):c.5T>G (p.Val2Gly)
NM_012120.3(CD2AP):c.600T>C (p.Thr200=)
NM_012120.3(CD2AP):c.62G>A (p.Arg21Gln) rs559978848
NM_012120.3(CD2AP):c.635G>T (p.Arg212Leu) rs754966889
NM_012120.3(CD2AP):c.660T>G (p.Phe220Leu)
NM_012120.3(CD2AP):c.683G>A (p.Arg228Gln)
NM_012120.3(CD2AP):c.701G>C (p.Ser234Thr) rs1768239059
NM_012120.3(CD2AP):c.702T>A (p.Ser234Arg)
NM_012120.3(CD2AP):c.715A>G (p.Lys239Glu)
NM_012120.3(CD2AP):c.729+10A>T rs1582577744
NM_012120.3(CD2AP):c.729+7A>G
NM_012120.3(CD2AP):c.729G>C (p.Lys243Asn)
NM_012120.3(CD2AP):c.808+3A>G
NM_012120.3(CD2AP):c.809-180_809-177del
NM_012120.3(CD2AP):c.81G>T (p.Arg27Ser) rs1283834941
NM_012120.3(CD2AP):c.839A>G (p.Tyr280Cys)
NM_012120.3(CD2AP):c.844G>A (p.Gly282Ser)
NM_012120.3(CD2AP):c.861A>T (p.Glu287Asp)
NM_012120.3(CD2AP):c.903+20C>T rs745500591
NM_012120.3(CD2AP):c.904-37dup rs34735056
NM_012120.3(CD2AP):c.904-38_904-37dup rs34735056
NM_012120.3(CD2AP):c.904-39_904-37dup rs34735056
NM_012120.3(CD2AP):c.904-40_904-37dup rs34735056
NM_012120.3(CD2AP):c.913G>A (p.Glu305Lys)
NM_012120.3(CD2AP):c.916G>A (p.Ala306Thr)
NM_012120.3(CD2AP):c.934G>A (p.Glu312Lys)
NM_012120.3(CD2AP):c.960T>C (p.Phe320=)
NM_012120.3(CD2AP):c.976G>A (p.Val326Ile) rs1768411066
NM_012120.3(CD2AP):c.978C>T (p.Val326=)
NM_012120.3(CD2AP):c.997A>G (p.Lys333Glu)
NM_012120.3(CD2AP):c.998A>C (p.Lys333Thr)

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.