ClinVar Miner

List of variants in gene CC2D2A reported as pathogenic for Meckel syndrome

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 194
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HGVS dbSNP gnomAD frequency
NM_001378615.1(CC2D2A):c.1762C>T (p.Gln588Ter) rs116358011 0.00057
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter) rs370880399 0.00011
NM_001378615.1(CC2D2A):c.1017+1G>A rs200407856 0.00008
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.2803C>T (p.Arg935Ter) rs563610095 0.00004
NM_001378615.1(CC2D2A):c.3341C>T (p.Thr1114Met) rs386833752 0.00003
NM_001378615.1(CC2D2A):c.4333C>T (p.Arg1445Ter) rs529437224 0.00003
NM_001378615.1(CC2D2A):c.100C>T (p.Arg34Ter) rs896947430 0.00002
NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter) rs760676442 0.00002
NM_001378615.1(CC2D2A):c.3688C>T (p.Arg1230Ter) rs1022325907 0.00002
NM_001378615.1(CC2D2A):c.3850C>T (p.Arg1284Cys) rs779823379 0.00002
NM_001378615.1(CC2D2A):c.1267C>T (p.Arg423Ter) rs757208121 0.00001
NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter) rs781252161 0.00001
NM_001378615.1(CC2D2A):c.2486+1G>C rs386833747 0.00001
NM_001378615.1(CC2D2A):c.2773C>T (p.Arg925Ter) rs386833748 0.00001
NM_001378615.1(CC2D2A):c.2848C>T (p.Arg950Ter) rs118204053 0.00001
NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val) rs773881370 0.00001
NM_001378615.1(CC2D2A):c.3134T>C (p.Val1045Ala) rs863225173 0.00001
NM_001378615.1(CC2D2A):c.3376G>A (p.Glu1126Lys) rs1473532901 0.00001
NM_001378615.1(CC2D2A):c.3763C>T (p.Arg1255Ter) rs1271825377 0.00001
NM_001378615.1(CC2D2A):c.3851G>A (p.Arg1284His) rs754586025 0.00001
NM_001378615.1(CC2D2A):c.3988C>T (p.Arg1330Ter) rs758036385 0.00001
NM_001378615.1(CC2D2A):c.3989G>A (p.Arg1330Gln) rs763486732 0.00001
NM_001378615.1(CC2D2A):c.4460dup (p.Ser1488fs) rs1560199860 0.00001
NM_001378615.1(CC2D2A):c.4496+2T>C rs386833762 0.00001
NM_001378615.1(CC2D2A):c.4550C>G (p.Thr1517Ser) rs780673487 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.712G>T (p.Glu238Ter) rs761213221 0.00001
NM_001378615.1(CC2D2A):c.913C>T (p.Gln305Ter) rs1158349299 0.00001
NC_000004.11:g.(?_15477537)_(15603068_?)del
NC_000004.11:g.(?_15477557)_(15477615_?)del
NC_000004.11:g.(?_15477557)_(15482471_?)del
NC_000004.11:g.(?_15477557)_(15504566_?)del
NC_000004.11:g.(?_15480327)_(15482471_?)del
NC_000004.11:g.(?_15480341)_(15482457_?)del
NC_000004.11:g.(?_15482308)_(15560900_?)del
NC_000004.11:g.(?_15504032)_(15513066_?)del
NC_000004.11:g.(?_15511794)_(15573510_?)del
NC_000004.11:g.(?_15529050)_(15530369_?)del
NC_000004.11:g.(?_15529050)_(15554948_?)del
NC_000004.11:g.(?_15554761)_(15556853_?)del
NC_000004.11:g.(?_15565496)_(15581640_?)del
NC_000004.11:g.(?_15568980)_(15569429_?)del
NC_000004.11:g.(?_15599010)_(15603048_?)del
NC_000004.11:g.15601250_15601251delCT rs794729226
NC_000004.12:g.(?_15478723)_(15480827_?)del
NC_000004.12:g.(?_15540837)_(15541014_?)del
NC_000004.12:g.15574152_15574155del
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001378615.1(CC2D2A):c.1105C>T (p.Gln369Ter)
NM_001378615.1(CC2D2A):c.1160dup (p.Tyr387Ter)
NM_001378615.1(CC2D2A):c.121C>T (p.Gln41Ter) rs2108970120
NM_001378615.1(CC2D2A):c.1263_1264insGGCATGTTTTGGC (p.Ser422fs)
NM_001378615.1(CC2D2A):c.1264_1268delinsGGCATGTTTTGGCAGCCA (p.Ser422fs)
NM_001378615.1(CC2D2A):c.1297del (p.Gln433fs) rs1560166488
NM_001378615.1(CC2D2A):c.1339del (p.Ala447fs) rs386833745
NM_001378615.1(CC2D2A):c.1370T>A (p.Leu457Ter) rs1131691659
NM_001378615.1(CC2D2A):c.1440del (p.Ile481fs)
NM_001378615.1(CC2D2A):c.1465C>T (p.Arg489Ter) rs145678228
NM_001378615.1(CC2D2A):c.1468C>T (p.Gln490Ter) rs1288358527
NM_001378615.1(CC2D2A):c.1498del (p.Glu500fs)
NM_001378615.1(CC2D2A):c.1538G>A (p.Trp513Ter) rs2109029867
NM_001378615.1(CC2D2A):c.1596del (p.Val533fs)
NM_001378615.1(CC2D2A):c.1644T>A (p.Tyr548Ter)
NM_001378615.1(CC2D2A):c.1666del (p.Glu555_Ile556insTer) rs773740057
NM_001378615.1(CC2D2A):c.1676T>C (p.Leu559Pro) rs754221308
NM_001378615.1(CC2D2A):c.1684G>T (p.Glu562Ter)
NM_001378615.1(CC2D2A):c.16G>T (p.Glu6Ter)
NM_001378615.1(CC2D2A):c.173del (p.Gly58fs)
NM_001378615.1(CC2D2A):c.1751G>A (p.Trp584Ter) rs980305935
NM_001378615.1(CC2D2A):c.1760del (p.Val587fs)
NM_001378615.1(CC2D2A):c.1790_1809del (p.Gln597fs)
NM_001378615.1(CC2D2A):c.1801G>T (p.Glu601Ter)
NM_001378615.1(CC2D2A):c.1883dup (p.Val629fs)
NM_001378615.1(CC2D2A):c.199del (p.Glu67fs) rs1433294475
NM_001378615.1(CC2D2A):c.2043dup (p.Val682fs)
NM_001378615.1(CC2D2A):c.2105del (p.Gly702fs)
NM_001378615.1(CC2D2A):c.2116C>T (p.Arg706Ter)
NM_001378615.1(CC2D2A):c.2146C>T (p.Gln716Ter)
NM_001378615.1(CC2D2A):c.2164G>T (p.Glu722Ter)
NM_001378615.1(CC2D2A):c.2181+1G>A
NM_001378615.1(CC2D2A):c.2222_2229dup (p.Phe744fs) rs1471484901
NM_001378615.1(CC2D2A):c.2417del (p.Ala806fs)
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.25A>T (p.Lys9Ter)
NM_001378615.1(CC2D2A):c.2625+1G>A rs1577372471
NM_001378615.1(CC2D2A):c.2625+2T>C rs1449972974
NM_001378615.1(CC2D2A):c.2650del (p.Val884fs)
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter) rs764719093
NM_001378615.1(CC2D2A):c.2728C>T (p.Arg910Ter) rs781206278
NM_001378615.1(CC2D2A):c.2774G>C (p.Arg925Pro) rs200707391
NM_001378615.1(CC2D2A):c.2875G>T (p.Glu959Ter)
NM_001378615.1(CC2D2A):c.2875del (p.Glu959fs) rs2109060174
NM_001378615.1(CC2D2A):c.2898_2899dup (p.Ile967fs) rs2109060214
NM_001378615.1(CC2D2A):c.28del (p.Lys9_Ile10insTer)
NM_001378615.1(CC2D2A):c.2923-1G>A
NM_001378615.1(CC2D2A):c.293_299del (p.Glu97_Phe98insTer)
NM_001378615.1(CC2D2A):c.2993AAG[1] (p.Glu999_Glu1000del) rs764874938
NM_001378615.1(CC2D2A):c.2993AAG[2] (p.Glu1000del) rs764874938
NM_001378615.1(CC2D2A):c.2999_3000inv (p.Glu1000Val)
NM_001378615.1(CC2D2A):c.3049C>T (p.Gln1017Ter)
NM_001378615.1(CC2D2A):c.304G>T (p.Gly102Ter)
NM_001378615.1(CC2D2A):c.306dup (p.Arg103fs)
NM_001378615.1(CC2D2A):c.3084del (p.Lys1029fs) rs386833749
NM_001378615.1(CC2D2A):c.3145C>T (p.Arg1049Ter) rs386833750
NM_001378615.1(CC2D2A):c.3276C>A (p.Tyr1092Ter)
NM_001378615.1(CC2D2A):c.3293T>G (p.Leu1098Ter) rs1719950579
NM_001378615.1(CC2D2A):c.3311A>G (p.Glu1104Gly) rs2109070607
NM_001378615.1(CC2D2A):c.3320_3321del (p.Phe1107fs) rs2109070615
NM_001378615.1(CC2D2A):c.3336C>A (p.Cys1112Ter)
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001378615.1(CC2D2A):c.3418_3425del (p.Ser1140fs)
NM_001378615.1(CC2D2A):c.3468dup (p.Asp1157Ter)
NM_001378615.1(CC2D2A):c.3469_3476del (p.Asp1157fs)
NM_001378615.1(CC2D2A):c.3505G>T (p.Glu1169Ter)
NM_001378615.1(CC2D2A):c.3535G>T (p.Glu1179Ter)
NM_001378615.1(CC2D2A):c.3538A>T (p.Arg1180Ter)
NM_001378615.1(CC2D2A):c.356T>A (p.Leu119Ter)
NM_001378615.1(CC2D2A):c.3588del (p.Ala1197fs) rs982352950
NM_001378615.1(CC2D2A):c.35_36del (p.Thr12fs)
NM_001378615.1(CC2D2A):c.3613dup (p.Ile1205fs)
NM_001378615.1(CC2D2A):c.3626del (p.Pro1209fs) rs2109077865
NM_001378615.1(CC2D2A):c.3638del (p.Gly1213fs)
NM_001378615.1(CC2D2A):c.3640_3643dup (p.Ser1215fs) rs2109077880
NM_001378615.1(CC2D2A):c.3652C>T (p.Arg1218Ter) rs375278294
NM_001378615.1(CC2D2A):c.3734_3744del (p.Glu1245fs)
NM_001378615.1(CC2D2A):c.3739C>T (p.Gln1247Ter)
NM_001378615.1(CC2D2A):c.3744_3747dup (p.Pro1250fs) rs863225171
NM_001378615.1(CC2D2A):c.3762del (p.Arg1255fs)
NM_001378615.1(CC2D2A):c.3770del (p.Lys1257fs)
NM_001378615.1(CC2D2A):c.3774dup (p.Glu1259Ter) rs386833757
NM_001378615.1(CC2D2A):c.3803_3804del (p.Gln1268fs) rs2109083312
NM_001378615.1(CC2D2A):c.3810_3811del (p.Lys1272fs) rs1312758061
NM_001378615.1(CC2D2A):c.3820C>T (p.Gln1274Ter)
NM_001378615.1(CC2D2A):c.384del (p.Arg129fs)
NM_001378615.1(CC2D2A):c.3892_3893del (p.Val1298fs) rs763735590
NM_001378615.1(CC2D2A):c.3896_3920del (p.Val1298_Phe1299insTer)
NM_001378615.1(CC2D2A):c.3897del (p.Phe1299fs)
NM_001378615.1(CC2D2A):c.3975+4_3975+7del rs386833759
NM_001378615.1(CC2D2A):c.4084dup (p.Ala1362fs) rs1313708855
NM_001378615.1(CC2D2A):c.4086del (p.Asp1364fs) rs2109090291
NM_001378615.1(CC2D2A):c.4098del (p.Glu1367fs)
NM_001378615.1(CC2D2A):c.411_414del (p.Lys137fs)
NM_001378615.1(CC2D2A):c.4127_4130del (p.Phe1376fs)
NM_001378615.1(CC2D2A):c.4175del (p.Pro1392fs)
NM_001378615.1(CC2D2A):c.4179+1del rs386833760
NM_001378615.1(CC2D2A):c.418_419insGAGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTCTGCATCTCCATCTGAGGTACCGGGTTCATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAGAATTGG (p.Glu140delinsGlyGlyArgSerGlnAspGlyArgIleGlyThrAlaProValTyrSerSerGlnArgGluArgArgArgArgArgTer)
NM_001378615.1(CC2D2A):c.4193_4194dup (p.Val1399fs)
NM_001378615.1(CC2D2A):c.4229G>A (p.Trp1410Ter)
NM_001378615.1(CC2D2A):c.4254T>A (p.Tyr1418Ter)
NM_001378615.1(CC2D2A):c.4256del (p.Gly1419fs) rs772110399
NM_001378615.1(CC2D2A):c.4295_4298del (p.Gly1431_Cys1432insTer) rs1560196436
NM_001378615.1(CC2D2A):c.4320G>A (p.Trp1440Ter)
NM_001378615.1(CC2D2A):c.436G>T (p.Glu146Ter)
NM_001378615.1(CC2D2A):c.4440del (p.Glu1481fs)
NM_001378615.1(CC2D2A):c.4455C>A (p.Tyr1485Ter)
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437
NM_001378615.1(CC2D2A):c.4471dup (p.Ala1491fs)
NM_001378615.1(CC2D2A):c.4507dup (p.Ile1503fs)
NM_001378615.1(CC2D2A):c.4513A>T (p.Lys1505Ter)
NM_001378615.1(CC2D2A):c.4522del (p.Ile1508fs) rs775292940
NM_001378615.1(CC2D2A):c.4522dup (p.Ile1508fs)
NM_001378615.1(CC2D2A):c.4531T>C (p.Trp1511Arg) rs1721483506
NM_001378615.1(CC2D2A):c.4550C>T (p.Thr1517Ile) rs780673487
NM_001378615.1(CC2D2A):c.4552C>T (p.Arg1518Trp) rs767260373
NM_001378615.1(CC2D2A):c.4569T>A (p.Cys1523Ter)
NM_001378615.1(CC2D2A):c.4594_4624del (p.Leu1531_Pro1532insTer)
NM_001378615.1(CC2D2A):c.463C>T (p.Gln155Ter)
NM_001378615.1(CC2D2A):c.4654A>T (p.Lys1552Ter)
NM_001378615.1(CC2D2A):c.4655_4656dup (p.Gln1553fs)
NM_001378615.1(CC2D2A):c.4671C>A (p.Tyr1557Ter)
NM_001378615.1(CC2D2A):c.467_468insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACGTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAGGACTCAACA (p.Gln156_Glu157insAlaGlyArgGlyGlySerArgLeuTer)
NM_001378615.1(CC2D2A):c.4682dup (p.Phe1562fs) rs1553845917
NM_001378615.1(CC2D2A):c.469G>T (p.Glu157Ter)
NM_001378615.1(CC2D2A):c.4708G>T (p.Glu1570Ter)
NM_001378615.1(CC2D2A):c.523del (p.Ile175fs)
NM_001378615.1(CC2D2A):c.534del (p.Lys178fs)
NM_001378615.1(CC2D2A):c.541-1G>A rs1716552711
NM_001378615.1(CC2D2A):c.650del (p.Gly217fs) rs746415983
NM_001378615.1(CC2D2A):c.676G>T (p.Glu226Ter)
NM_001378615.1(CC2D2A):c.715del (p.Met239fs)
NM_001378615.1(CC2D2A):c.718-1G>C
NM_001378615.1(CC2D2A):c.77_83del (p.Arg26fs)
NM_001378615.1(CC2D2A):c.79C>T (p.Gln27Ter)
NM_001378615.1(CC2D2A):c.839del (p.Gln280fs)
NM_001378615.1(CC2D2A):c.902_903insGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGCTTCC (p.Glu302fs)
NM_001378615.1(CC2D2A):c.941_943delinsC (p.Leu314fs) rs1445978091
NM_001378615.1(CC2D2A):c.948del (p.Gly317_Val318insTer) rs2109012834
NM_001378615.1(CC2D2A):c.964del (p.Val322fs) rs1577340510

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