ClinVar Miner

List of variants in gene CC2D2A studied for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 262
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HGVS dbSNP gnomAD frequency
NM_001378615.1(CC2D2A):c.2181+7A>C rs143681243 0.00124
NM_001378615.1(CC2D2A):c.1762C>T (p.Gln588Ter) rs116358011 0.00057
NM_001378615.1(CC2D2A):c.4729G>A (p.Ala1577Thr) rs199695154 0.00039
NM_001378615.1(CC2D2A):c.1691C>T (p.Thr564Met) rs201954181 0.00026
NM_001378615.1(CC2D2A):c.4675-15G>A rs377573053 0.00026
NM_001378615.1(CC2D2A):c.751G>A (p.Glu251Lys) rs374554530 0.00024
NM_001378615.1(CC2D2A):c.4852C>T (p.Arg1618Cys) rs201219078 0.00023
NM_001378615.1(CC2D2A):c.2560T>G (p.Trp854Gly) rs747204358 0.00021
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_001378615.1(CC2D2A):c.3135G>A (p.Val1045=) rs371608031 0.00015
NM_001378615.1(CC2D2A):c.3368G>A (p.Ser1123Asn) rs377404804 0.00015
NM_001378615.1(CC2D2A):c.3014+4A>C rs748451478 0.00014
NM_001378615.1(CC2D2A):c.3113A>T (p.Asp1038Val) rs376913682 0.00014
NM_001378615.1(CC2D2A):c.3288+3G>A rs372903309 0.00014
NM_001378615.1(CC2D2A):c.3751G>A (p.Gly1251Arg) rs368180778 0.00014
NM_001378615.1(CC2D2A):c.2597A>G (p.Asn866Ser) rs199563573 0.00012
NM_001378615.1(CC2D2A):c.4334G>A (p.Arg1445Gln) rs113065116 0.00012
NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter) rs370880399 0.00011
NM_001378615.1(CC2D2A):c.603C>T (p.Pro201=) rs556542553 0.00011
NM_001378615.1(CC2D2A):c.1484G>A (p.Arg495His) rs373906628 0.00009
NM_001378615.1(CC2D2A):c.1766G>A (p.Arg589Lys) rs763477416 0.00009
NM_001378615.1(CC2D2A):c.2182-9G>A rs376312792 0.00009
NM_001378615.1(CC2D2A):c.2437G>A (p.Gly813Arg) rs375167917 0.00009
NM_001378615.1(CC2D2A):c.2624C>T (p.Ser875Leu) rs200904521 0.00009
NM_001378615.1(CC2D2A):c.786C>T (p.Asp262=) rs200434902 0.00009
NM_001378615.1(CC2D2A):c.1017+1G>A rs200407856 0.00008
NM_001378615.1(CC2D2A):c.4238G>A (p.Cys1413Tyr) rs146843542 0.00007
NM_001378615.1(CC2D2A):c.950G>T (p.Gly317Val) rs775632403 0.00007
NM_001378615.1(CC2D2A):c.1553C>A (p.Ser518Tyr) rs375633207 0.00006
NM_001378615.1(CC2D2A):c.3176C>A (p.Ala1059Glu) rs200034384 0.00006
NM_001378615.1(CC2D2A):c.3347C>T (p.Thr1116Met) rs267606709 0.00006
NM_001378615.1(CC2D2A):c.394C>T (p.Arg132Ter) rs377177061 0.00006
NM_001378615.1(CC2D2A):c.4460G>A (p.Arg1487His) rs971832306 0.00006
NM_001378615.1(CC2D2A):c.932A>G (p.Asp311Gly) rs375247004 0.00006
NM_001378615.1(CC2D2A):c.949G>A (p.Gly317Arg) rs188018643 0.00006
NM_001378615.1(CC2D2A):c.1268G>A (p.Arg423Gln) rs780924556 0.00005
NM_001378615.1(CC2D2A):c.157G>A (p.Glu53Lys) rs373080748 0.00005
NM_001378615.1(CC2D2A):c.4540C>T (p.Arg1514Cys) rs756324214 0.00005
NM_001378615.1(CC2D2A):c.4553G>A (p.Arg1518Gln) rs200645738 0.00005
NM_001378615.1(CC2D2A):c.1340C>T (p.Ala447Val) rs775138548 0.00004
NM_001378615.1(CC2D2A):c.1859G>A (p.Ser620Asn) rs373797532 0.00004
NM_001378615.1(CC2D2A):c.2101C>G (p.Leu701Val) rs537906621 0.00004
NM_001378615.1(CC2D2A):c.2181+6C>T rs997637353 0.00004
NM_001378615.1(CC2D2A):c.2803C>T (p.Arg935Ter) rs563610095 0.00004
NM_001378615.1(CC2D2A):c.298A>C (p.Met100Leu) rs370014549 0.00004
NM_001378615.1(CC2D2A):c.308G>A (p.Arg103His) rs566281691 0.00004
NM_001378615.1(CC2D2A):c.3640T>C (p.Tyr1214His) rs759970546 0.00004
NM_001378615.1(CC2D2A):c.3643A>G (p.Ser1215Gly) rs765661601 0.00004
NM_001378615.1(CC2D2A):c.2519T>C (p.Ile840Thr) rs373111926 0.00003
NM_001378615.1(CC2D2A):c.3631C>G (p.Leu1211Val) rs753905430 0.00003
NM_001378615.1(CC2D2A):c.389G>A (p.Arg130His) rs778519147 0.00003
NM_001378615.1(CC2D2A):c.439-13T>G rs1305181844 0.00003
NM_001378615.1(CC2D2A):c.4738A>G (p.Ser1580Gly) rs377460557 0.00003
NM_001378615.1(CC2D2A):c.1081C>T (p.Pro361Ser) rs748850069 0.00002
NM_001378615.1(CC2D2A):c.1444A>G (p.Asn482Asp) rs777022662 0.00002
NM_001378615.1(CC2D2A):c.1730C>T (p.Ser577Leu) rs543650388 0.00002
NM_001378615.1(CC2D2A):c.1820T>C (p.Ile607Thr) rs771221391 0.00002
NM_001378615.1(CC2D2A):c.1994A>G (p.Gln665Arg) rs1718235188 0.00002
NM_001378615.1(CC2D2A):c.2639G>A (p.Gly880Asp) rs541135799 0.00002
NM_001378615.1(CC2D2A):c.2842C>T (p.Arg948Trp) rs563295435 0.00002
NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter) rs760676442 0.00002
NM_001378615.1(CC2D2A):c.3544T>C (p.Trp1182Arg) rs386833755 0.00002
NM_001378615.1(CC2D2A):c.3688C>T (p.Arg1230Ter) rs1022325907 0.00002
NM_001378615.1(CC2D2A):c.380G>A (p.Arg127Gln) rs748886997 0.00002
NM_001378615.1(CC2D2A):c.3850C>T (p.Arg1284Cys) rs779823379 0.00002
NM_001378615.1(CC2D2A):c.4022C>G (p.Thr1341Ser) rs745599580 0.00002
NM_001378615.1(CC2D2A):c.4345C>G (p.Pro1449Ala) rs375410796 0.00002
NM_001378615.1(CC2D2A):c.4583G>A (p.Arg1528His) rs886940102 0.00002
NM_001378615.1(CC2D2A):c.1197C>A (p.Asp399Glu) rs1019784141 0.00001
NM_001378615.1(CC2D2A):c.1267C>T (p.Arg423Ter) rs757208121 0.00001
NM_001378615.1(CC2D2A):c.1409C>G (p.Pro470Arg) rs370978967 0.00001
NM_001378615.1(CC2D2A):c.1466G>A (p.Arg489Gln) rs1300362447 0.00001
NM_001378615.1(CC2D2A):c.1871C>T (p.Pro624Leu) rs947493633 0.00001
NM_001378615.1(CC2D2A):c.274A>G (p.Arg92Gly) rs886043867 0.00001
NM_001378615.1(CC2D2A):c.2780A>C (p.Tyr927Ser) rs915290953 0.00001
NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val) rs773881370 0.00001
NM_001378615.1(CC2D2A):c.3015-9A>C rs1010285962 0.00001
NM_001378615.1(CC2D2A):c.3763C>T (p.Arg1255Ter) rs1271825377 0.00001
NM_001378615.1(CC2D2A):c.3989G>A (p.Arg1330Gln) rs763486732 0.00001
NM_001378615.1(CC2D2A):c.4384T>C (p.Trp1462Arg) rs368720062 0.00001
NM_001378615.1(CC2D2A):c.4400C>T (p.Ser1467Leu) rs1041487733 0.00001
NM_001378615.1(CC2D2A):c.4526T>C (p.Met1509Thr) rs760863691 0.00001
NM_001378615.1(CC2D2A):c.4577C>A (p.Thr1526Asn) rs749265354 0.00001
NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys) rs118204052 0.00001
NM_001378615.1(CC2D2A):c.517C>T (p.Arg173Ter) rs386833763 0.00001
NM_001378615.1(CC2D2A):c.579C>G (p.Asn193Lys) rs761117385 0.00001
NM_001378615.1(CC2D2A):c.712G>T (p.Glu238Ter) rs761213221 0.00001
NM_001378615.1(CC2D2A):c.7C>A (p.Pro3Thr) rs745734694 0.00001
NM_001378615.1(CC2D2A):c.832C>T (p.Arg278Trp) rs372873919 0.00001
NM_001378615.1(CC2D2A):c.857T>C (p.Leu286Pro) rs776020343 0.00001
NM_001378615.1(CC2D2A):c.971G>A (p.Arg324His) rs113371687 0.00001
NC_000004.12:g.15563877_15580021del
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001080522.2(CC2D2A):c.3597_3600del
NM_001378615.1(CC2D2A):c.1012G>A (p.Asp338Asn)
NM_001378615.1(CC2D2A):c.1041C>A (p.Asp347Glu)
NM_001378615.1(CC2D2A):c.1082del (p.Pro361fs)
NM_001378615.1(CC2D2A):c.1096G>C (p.Val366Leu)
NM_001378615.1(CC2D2A):c.1124C>G (p.Ala375Gly)
NM_001378615.1(CC2D2A):c.1127A>T (p.Glu376Val) rs16892095
NM_001378615.1(CC2D2A):c.1140_1141del (p.Leu380_Tyr381insTer)
NM_001378615.1(CC2D2A):c.1150-3C>A
NM_001378615.1(CC2D2A):c.1161C>T (p.Tyr387=)
NM_001378615.1(CC2D2A):c.1184T>G (p.Ile395Ser)
NM_001378615.1(CC2D2A):c.118A>C (p.Lys40Gln)
NM_001378615.1(CC2D2A):c.121C>T (p.Gln41Ter) rs2108970120
NM_001378615.1(CC2D2A):c.1229T>C (p.Ile410Thr)
NM_001378615.1(CC2D2A):c.1250A>C (p.His417Pro)
NM_001378615.1(CC2D2A):c.1294G>A (p.Ala432Thr)
NM_001378615.1(CC2D2A):c.1297_1299delinsAA (p.Gln433fs) rs1560166511
NM_001378615.1(CC2D2A):c.1339del (p.Ala447fs) rs386833745
NM_001378615.1(CC2D2A):c.1359+1G>A
NM_001378615.1(CC2D2A):c.1359+1G>C
NM_001378615.1(CC2D2A):c.1363C>T (p.Gln455Ter)
NM_001378615.1(CC2D2A):c.1365del (p.Ala456fs)
NM_001378615.1(CC2D2A):c.1371A>C (p.Leu457Phe)
NM_001378615.1(CC2D2A):c.1373G>A (p.Arg458Lys)
NM_001378615.1(CC2D2A):c.1402G>A (p.Glu468Lys)
NM_001378615.1(CC2D2A):c.149T>A (p.Met50Lys) rs765810643
NM_001378615.1(CC2D2A):c.1508G>A (p.Arg503Lys)
NM_001378615.1(CC2D2A):c.1538G>A (p.Trp513Ter) rs2109029867
NM_001378615.1(CC2D2A):c.1696G>A (p.Glu566Lys)
NM_001378615.1(CC2D2A):c.1705C>T (p.Gln569Ter)
NM_001378615.1(CC2D2A):c.1751G>A (p.Trp584Ter) rs980305935
NM_001378615.1(CC2D2A):c.1760T>C (p.Val587Ala)
NM_001378615.1(CC2D2A):c.1764+19A>T
NM_001378615.1(CC2D2A):c.1798G>A (p.Glu600Lys)
NM_001378615.1(CC2D2A):c.1817A>T (p.Glu606Val) rs747187783
NM_001378615.1(CC2D2A):c.1847T>C (p.Leu616Pro)
NM_001378615.1(CC2D2A):c.1856C>T (p.Pro619Leu)
NM_001378615.1(CC2D2A):c.1879C>T (p.Arg627Trp)
NM_001378615.1(CC2D2A):c.1932dup (p.Pro645fs)
NM_001378615.1(CC2D2A):c.1938G>A (p.Trp646Ter)
NM_001378615.1(CC2D2A):c.1988_1991dup (p.Asp664delinsGluTer)
NM_001378615.1(CC2D2A):c.199del (p.Glu67fs) rs1433294475
NM_001378615.1(CC2D2A):c.2036A>G (p.Lys679Arg)
NM_001378615.1(CC2D2A):c.2038C>T (p.Arg680Cys)
NM_001378615.1(CC2D2A):c.2075_2078dup (p.Ser694fs)
NM_001378615.1(CC2D2A):c.2076G>T (p.Glu692Asp)
NM_001378615.1(CC2D2A):c.2093G>C (p.Ser698Thr)
NM_001378615.1(CC2D2A):c.2096G>T (p.Arg699Leu)
NM_001378615.1(CC2D2A):c.2112C>A (p.Asp704Glu)
NM_001378615.1(CC2D2A):c.2130G>T (p.Gly710=)
NM_001378615.1(CC2D2A):c.2181+17T>G rs1016233369
NM_001378615.1(CC2D2A):c.2222_2229dup (p.Phe744fs) rs1471484901
NM_001378615.1(CC2D2A):c.2269G>C (p.Ala757Pro)
NM_001378615.1(CC2D2A):c.229G>A (p.Val77Ile)
NM_001378615.1(CC2D2A):c.2309T>G (p.Val770Gly)
NM_001378615.1(CC2D2A):c.2311A>C (p.Thr771Pro)
NM_001378615.1(CC2D2A):c.232C>T (p.Arg78Trp)
NM_001378615.1(CC2D2A):c.2339-1G>A
NM_001378615.1(CC2D2A):c.2345C>T (p.Pro782Leu)
NM_001378615.1(CC2D2A):c.2440dup (p.Ile814fs)
NM_001378615.1(CC2D2A):c.2444del (p.Pro815fs)
NM_001378615.1(CC2D2A):c.244C>T (p.Arg82Trp)
NM_001378615.1(CC2D2A):c.2456C>A (p.Pro819Gln) rs1719100127
NM_001378615.1(CC2D2A):c.2469G>C (p.Gln823His)
NM_001378615.1(CC2D2A):c.248-4_248-3insAAGTTTT rs750398145
NM_001378615.1(CC2D2A):c.2487-7_2487-3del
NM_001378615.1(CC2D2A):c.2561G>A (p.Trp854Ter) rs1560180188
NM_001378615.1(CC2D2A):c.2568del (p.Glu857fs)
NM_001378615.1(CC2D2A):c.2581G>A (p.Asp861Asn)
NM_001378615.1(CC2D2A):c.2582A>T (p.Asp861Val)
NM_001378615.1(CC2D2A):c.2625+1G>A rs1577372471
NM_001378615.1(CC2D2A):c.2625+9C>G
NM_001378615.1(CC2D2A):c.2625G>C (p.Ser875=) rs765873247
NM_001378615.1(CC2D2A):c.2647T>C (p.Tyr883His)
NM_001378615.1(CC2D2A):c.266C>T (p.Ser89Leu)
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter) rs764719093
NM_001378615.1(CC2D2A):c.2686G>T (p.Glu896Ter)
NM_001378615.1(CC2D2A):c.2708A>G (p.Gln903Arg)
NM_001378615.1(CC2D2A):c.2768A>C (p.Glu923Ala)
NM_001378615.1(CC2D2A):c.2774G>C (p.Arg925Pro) rs200707391
NM_001378615.1(CC2D2A):c.278del (p.Thr93fs)
NM_001378615.1(CC2D2A):c.2809A>G (p.Ile937Val)
NM_001378615.1(CC2D2A):c.2820G>C (p.Lys940Asn)
NM_001378615.1(CC2D2A):c.2878C>T (p.His960Tyr)
NM_001378615.1(CC2D2A):c.2923-1G>A
NM_001378615.1(CC2D2A):c.2993AAG[2] (p.Glu1000del) rs764874938
NM_001378615.1(CC2D2A):c.3014+1del
NM_001378615.1(CC2D2A):c.3044C>T (p.Ala1015Val)
NM_001378615.1(CC2D2A):c.3084del (p.Lys1029fs) rs386833749
NM_001378615.1(CC2D2A):c.3100del (p.Gln1034fs)
NM_001378615.1(CC2D2A):c.3145C>T (p.Arg1049Ter) rs386833750
NM_001378615.1(CC2D2A):c.3198_3201delinsATCA (p.Pro1066_Ser1067=)
NM_001378615.1(CC2D2A):c.3262C>T (p.His1088Tyr)
NM_001378615.1(CC2D2A):c.3273C>A (p.Asp1091Glu)
NM_001378615.1(CC2D2A):c.3280del (p.Leu1094fs)
NM_001378615.1(CC2D2A):c.3283G>A (p.Gly1095Ser) rs181260724
NM_001378615.1(CC2D2A):c.3289-2del rs774235067
NM_001378615.1(CC2D2A):c.328G>C (p.Ala110Pro)
NM_001378615.1(CC2D2A):c.3313G>A (p.Val1105Ile)
NM_001378615.1(CC2D2A):c.3317_3318del (p.Ser1106fs)
NM_001378615.1(CC2D2A):c.336+4A>C
NM_001378615.1(CC2D2A):c.3363C>A (p.Asn1121Lys)
NM_001378615.1(CC2D2A):c.3485A>C (p.Asp1162Ala)
NM_001378615.1(CC2D2A):c.3497A>T (p.Asp1166Val)
NM_001378615.1(CC2D2A):c.3527C>A (p.Thr1176Asn) rs754966579
NM_001378615.1(CC2D2A):c.3535G>T (p.Glu1179Ter)
NM_001378615.1(CC2D2A):c.3588del (p.Ala1197fs) rs982352950
NM_001378615.1(CC2D2A):c.3613dup (p.Ile1205fs)
NM_001378615.1(CC2D2A):c.3659T>C (p.Met1220Thr)
NM_001378615.1(CC2D2A):c.3679_3682del (p.Asp1227fs)
NM_001378615.1(CC2D2A):c.3736C>T (p.Pro1246Ser) rs1318619045
NM_001378615.1(CC2D2A):c.376C>A (p.Pro126Thr)
NM_001378615.1(CC2D2A):c.3771+6T>C
NM_001378615.1(CC2D2A):c.3774dup (p.Glu1259Ter) rs386833757
NM_001378615.1(CC2D2A):c.3784G>T (p.Glu1262Ter)
NM_001378615.1(CC2D2A):c.3844C>A (p.Pro1282Thr)
NM_001378615.1(CC2D2A):c.3889_3890delinsCG (p.Thr1297Arg)
NM_001378615.1(CC2D2A):c.38A>C (p.Glu13Ala)
NM_001378615.1(CC2D2A):c.3905G>A (p.Arg1302His) rs988477564
NM_001378615.1(CC2D2A):c.3917C>G (p.Pro1306Arg)
NM_001378615.1(CC2D2A):c.391_404delinsC (p.Ser133fs)
NM_001378615.1(CC2D2A):c.3920_3960dup (p.Leu1321Ter)
NM_001378615.1(CC2D2A):c.3924C>T (p.Asn1308=)
NM_001378615.1(CC2D2A):c.3929C>G (p.Pro1310Arg)
NM_001378615.1(CC2D2A):c.3976-3C>A rs576298659
NM_001378615.1(CC2D2A):c.4001T>C (p.Leu1334Ser) rs1577396363
NM_001378615.1(CC2D2A):c.4061C>T (p.Ser1354Phe)
NM_001378615.1(CC2D2A):c.4066-11_4066-6del
NM_001378615.1(CC2D2A):c.4066-2del
NM_001378615.1(CC2D2A):c.4066C>G (p.Gln1356Glu)
NM_001378615.1(CC2D2A):c.4067A>C (p.Gln1356Pro)
NM_001378615.1(CC2D2A):c.4084dup (p.Ala1362fs) rs1313708855
NM_001378615.1(CC2D2A):c.4169C>G (p.Ala1390Gly)
NM_001378615.1(CC2D2A):c.4171A>T (p.Ile1391Phe)
NM_001378615.1(CC2D2A):c.4179+1del rs386833760
NM_001378615.1(CC2D2A):c.4181G>T (p.Gly1394Val)
NM_001378615.1(CC2D2A):c.4186A>G (p.Thr1396Ala)
NM_001378615.1(CC2D2A):c.41del (p.Glu14fs)
NM_001378615.1(CC2D2A):c.4262T>G (p.Phe1421Cys)
NM_001378615.1(CC2D2A):c.4315-1G>T
NM_001378615.1(CC2D2A):c.4321T>C (p.Phe1441Leu)
NM_001378615.1(CC2D2A):c.4366G>A (p.Val1456Ile)
NM_001378615.1(CC2D2A):c.438G>A (p.Glu146=) rs1215345163
NM_001378615.1(CC2D2A):c.4407C>A (p.Ser1469Arg)
NM_001378615.1(CC2D2A):c.4423C>T (p.Leu1475Phe)
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437
NM_001378615.1(CC2D2A):c.4507A>C (p.Ile1503Leu)
NM_001378615.1(CC2D2A):c.451G>T (p.Val151Leu) rs1485264498
NM_001378615.1(CC2D2A):c.4522del (p.Ile1508fs) rs775292940
NM_001378615.1(CC2D2A):c.4552C>A (p.Arg1518=)
NM_001378615.1(CC2D2A):c.4555T>G (p.Trp1519Gly) rs1577406415
NM_001378615.1(CC2D2A):c.4590del (p.Leu1531fs)
NM_001378615.1(CC2D2A):c.4601T>C (p.Leu1534Ser) rs2148495981
NM_001378615.1(CC2D2A):c.4609dup (p.Ser1537fs)
NM_001378615.1(CC2D2A):c.4625T>C (p.Val1542Ala)
NM_001378615.1(CC2D2A):c.463C>T (p.Gln155Ter)
NM_001378615.1(CC2D2A):c.4645del (p.Glu1549fs)
NM_001378615.1(CC2D2A):c.4684T>C (p.Phe1562Leu)
NM_001378615.1(CC2D2A):c.4730_4731delinsTGTATA (p.Ala1577fs) rs2148497420
NM_001378615.1(CC2D2A):c.4802C>G (p.Pro1601Arg)
NM_001378615.1(CC2D2A):c.4804T>C (p.Tyr1602His)
NM_001378615.1(CC2D2A):c.4830G>C (p.Trp1610Cys)
NM_001378615.1(CC2D2A):c.5A>G (p.Asn2Ser)
NM_001378615.1(CC2D2A):c.646G>C (p.Ala216Pro)
NM_001378615.1(CC2D2A):c.715del (p.Met239fs)
NM_001378615.1(CC2D2A):c.834del (p.Leu279fs) rs386833765
NM_001378615.1(CC2D2A):c.839del (p.Gln280fs)
NM_001378615.1(CC2D2A):c.977del (p.Asn326fs)
NM_001378615.1(CC2D2A):c.979C>T (p.Gln327Ter)

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