ClinVar Miner

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

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 85
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001378615.1(CC2D2A):c.394C>T (p.Arg132Ter) rs377177061 0.00006
NM_001378615.1(CC2D2A):c.4553G>A (p.Arg1518Gln) rs200645738 0.00005
NM_001378615.1(CC2D2A):c.3341C>T (p.Thr1114Met) rs386833752 0.00003
NM_001378615.1(CC2D2A):c.4407C>G (p.Ser1469Arg) rs587779732 0.00003
NM_001378615.1(CC2D2A):c.4652T>C (p.Leu1551Pro) rs763425007 0.00003
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.3850C>T (p.Arg1284Cys) rs779823379 0.00002
NM_001378615.1(CC2D2A):c.4583G>A (p.Arg1528His) rs886940102 0.00002
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.2625G>A (p.Ser875=) rs765873247 0.00001
NM_001378615.1(CC2D2A):c.2773C>T (p.Arg925Ter) rs386833748 0.00001
NM_001378615.1(CC2D2A):c.438+1G>A rs1453265480 0.00001
NM_001378615.1(CC2D2A):c.4384T>C (p.Trp1462Arg) rs368720062 0.00001
NM_001378615.1(CC2D2A):c.517C>T (p.Arg173Ter) rs386833763 0.00001
NC_000004.11:g.(?_15478346)_(15482422_?)del
NC_000004.11:g.(?_15482308)_(15482471_?)dup
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001378615.1(CC2D2A):c.1018-1G>A rs1716886666
NM_001378615.1(CC2D2A):c.123+2T>G
NM_001378615.1(CC2D2A):c.124-1G>C
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>C
NM_001378615.1(CC2D2A):c.1466+1G>A
NM_001378615.1(CC2D2A):c.1466+2T>C rs770219362
NM_001378615.1(CC2D2A):c.1467-1G>A
NM_001378615.1(CC2D2A):c.1537T>A (p.Trp513Arg) rs386833746
NM_001378615.1(CC2D2A):c.1608-2A>G
NM_001378615.1(CC2D2A):c.1676T>G (p.Leu559Arg) rs754221308
NM_001378615.1(CC2D2A):c.1765-1G>C
NM_001378615.1(CC2D2A):c.2004-1G>A
NM_001378615.1(CC2D2A):c.2338+2T>C
NM_001378615.1(CC2D2A):c.2339-2A>C rs1719092280
NM_001378615.1(CC2D2A):c.2440dup (p.Ile814fs)
NM_001378615.1(CC2D2A):c.247+1G>A rs765072583
NM_001378615.1(CC2D2A):c.248-1G>A rs2108998253
NM_001378615.1(CC2D2A):c.2486+1G>A
NM_001378615.1(CC2D2A):c.2774G>T (p.Arg925Leu)
NM_001378615.1(CC2D2A):c.2830-1G>A
NM_001378615.1(CC2D2A):c.2923-1G>A
NM_001378615.1(CC2D2A):c.3015-1G>C
NM_001378615.1(CC2D2A):c.3084del (p.Lys1029fs) rs386833749
NM_001378615.1(CC2D2A):c.3122_3123del (p.Ile1041fs) rs1560184664
NM_001378615.1(CC2D2A):c.3145C>G (p.Arg1049Gly) rs386833750
NM_001378615.1(CC2D2A):c.3182+1G>A
NM_001378615.1(CC2D2A):c.3183-1G>T rs1719930798
NM_001378615.1(CC2D2A):c.3211_3220del (p.Arg1071fs) rs1719933188
NM_001378615.1(CC2D2A):c.3310G>A (p.Glu1104Lys) rs2109070604
NM_001378615.1(CC2D2A):c.3317_3318del (p.Ser1106fs)
NM_001378615.1(CC2D2A):c.3365C>G (p.Pro1122Arg) rs886059182
NM_001378615.1(CC2D2A):c.337-2A>C
NM_001378615.1(CC2D2A):c.3399-1G>C
NM_001378615.1(CC2D2A):c.3399-3C>A rs386833753
NM_001378615.1(CC2D2A):c.3522_3523insTG (p.His1175fs) rs386833754
NM_001378615.1(CC2D2A):c.3584del (p.Phe1195fs) rs386833756
NM_001378615.1(CC2D2A):c.3595-1G>T
NM_001378615.1(CC2D2A):c.3774dup (p.Glu1259Ter) rs386833757
NM_001378615.1(CC2D2A):c.3893T>A (p.Val1298Asp) rs386833758
NM_001378615.1(CC2D2A):c.3929C>T (p.Pro1310Leu) rs1720595936
NM_001378615.1(CC2D2A):c.3975+1G>T
NM_001378615.1(CC2D2A):c.3975+2T>G
NM_001378615.1(CC2D2A):c.3975+4_3975+7del rs386833759
NM_001378615.1(CC2D2A):c.3992A>G (p.Tyr1331Cys) rs1720848250
NM_001378615.1(CC2D2A):c.4065+1G>A
NM_001378615.1(CC2D2A):c.4065+2T>C rs1179041639
NM_001378615.1(CC2D2A):c.4066-1G>A rs867390302
NM_001378615.1(CC2D2A):c.4088G>T (p.Gly1363Val) rs762683334
NM_001378615.1(CC2D2A):c.4179+1G>A rs886044295
NM_001378615.1(CC2D2A):c.4179+1del rs386833760
NM_001378615.1(CC2D2A):c.4289T>C (p.Val1430Ala) rs863225168
NM_001378615.1(CC2D2A):c.4303_4314+1del
NM_001378615.1(CC2D2A):c.4315-6_4315-3del rs926806639
NM_001378615.1(CC2D2A):c.438+1G>T rs1453265480
NM_001378615.1(CC2D2A):c.4496+2T>A rs386833762
NM_001378615.1(CC2D2A):c.4531T>C (p.Trp1511Arg) rs1721483506
NM_001378615.1(CC2D2A):c.4555T>C (p.Trp1519Arg) rs1577406415
NM_001378615.1(CC2D2A):c.4555T>G (p.Trp1519Gly) rs1577406415
NM_001378615.1(CC2D2A):c.4582C>A (p.Arg1528Ser)
NM_001378615.1(CC2D2A):c.540+1G>A rs1296652053
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del) rs386833764
NM_001378615.1(CC2D2A):c.717+1G>A
NM_001378615.1(CC2D2A):c.717+1G>T rs1027674181
NM_001378615.1(CC2D2A):c.834del (p.Leu279fs) rs386833765

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.