ClinVar Miner

List of variants in gene CC2D2A reported as likely pathogenic for bone disorder

Included ClinVar conditions (1416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 148
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HGVS dbSNP gnomAD frequency
NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter) rs370880399 0.00009
NM_001378615.1(CC2D2A):c.1017+1G>A rs200407856 0.00008
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.2625G>A (p.Ser875=) rs765873247 0.00002
NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val) rs773881370 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.1608-2A>G rs1419232670 0.00001
NM_001378615.1(CC2D2A):c.2004-1G>A rs1484983836 0.00001
NM_001378615.1(CC2D2A):c.2486+1G>C rs386833747 0.00001
NM_001378615.1(CC2D2A):c.2568del (p.Glu857fs) rs2475033368 0.00001
NM_001378615.1(CC2D2A):c.2581G>A (p.Asp861Asn) rs1367275342 0.00001
NM_001378615.1(CC2D2A):c.2773C>T (p.Arg925Ter) rs386833748 0.00001
NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter) rs760676442 0.00001
NM_001378615.1(CC2D2A):c.3399-1G>C rs746409565 0.00001
NM_001378615.1(CC2D2A):c.3399-3C>A rs386833753 0.00001
NM_001378615.1(CC2D2A):c.3535G>T (p.Glu1179Ter) rs767783281 0.00001
NM_001378615.1(CC2D2A):c.3763C>T (p.Arg1255Ter) rs1271825377 0.00001
NM_001378615.1(CC2D2A):c.3975+2T>G rs376561287 0.00001
NM_001378615.1(CC2D2A):c.3989G>A (p.Arg1330Gln) rs763486732 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
NM_001378615.1(CC2D2A):c.712G>T (p.Glu238Ter) rs761213221 0.00001
NC_000004.11:g.(?_15478346)_(15482422_?)del
NC_000004.11:g.(?_15482308)_(15482471_?)dup
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001080522.2(CC2D2A):c.3597_3600del rs2475092773
NM_001378615.1(CC2D2A):c.1018-1G>A rs1716886666
NM_001378615.1(CC2D2A):c.1082del (p.Pro361fs)
NM_001378615.1(CC2D2A):c.1140_1141del (p.Leu380_Tyr381insTer)
NM_001378615.1(CC2D2A):c.121C>T (p.Gln41Ter) rs2108970120
NM_001378615.1(CC2D2A):c.123+2T>G rs2474823496
NM_001378615.1(CC2D2A):c.124-1G>C rs949606263
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 rs1717586613
NM_001378615.1(CC2D2A):c.1363C>T (p.Gln455Ter)
NM_001378615.1(CC2D2A):c.1365del (p.Ala456fs)
NM_001378615.1(CC2D2A):c.1466+1G>A rs2474955286
NM_001378615.1(CC2D2A):c.1466+2T>C rs770219362
NM_001378615.1(CC2D2A):c.1467-1G>A rs2474965141
NM_001378615.1(CC2D2A):c.1537T>A (p.Trp513Arg) rs386833746
NM_001378615.1(CC2D2A):c.1676T>G (p.Leu559Arg) rs754221308
NM_001378615.1(CC2D2A):c.1705C>T (p.Gln569Ter)
NM_001378615.1(CC2D2A):c.1765-1G>C rs2474978321
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.1993_2003+43del
NM_001378615.1(CC2D2A):c.199del (p.Glu67fs) rs1433294475
NM_001378615.1(CC2D2A):c.2003+1G>A
NM_001378615.1(CC2D2A):c.2003+1G>T
NM_001378615.1(CC2D2A):c.2004-17A>G rs759192059
NM_001378615.1(CC2D2A):c.2075_2078dup (p.Ser694fs)
NM_001378615.1(CC2D2A):c.2222_2229dup (p.Phe744fs) rs1471484901
NM_001378615.1(CC2D2A):c.2338+2T>C rs2475019890
NM_001378615.1(CC2D2A):c.2339-1G>A
NM_001378615.1(CC2D2A):c.2339-2A>C rs1719092280
NM_001378615.1(CC2D2A):c.2440dup (p.Ile814fs)
NM_001378615.1(CC2D2A):c.2444del (p.Pro815fs)
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 rs386833747
NM_001378615.1(CC2D2A):c.2561G>A (p.Trp854Ter) rs1560180188
NM_001378615.1(CC2D2A):c.2625+1G>A rs1577372471
NM_001378615.1(CC2D2A):c.2625G>C (p.Ser875=) rs765873247
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter) rs764719093
NM_001378615.1(CC2D2A):c.2686G>T (p.Glu896Ter)
NM_001378615.1(CC2D2A):c.2774G>C (p.Arg925Pro) rs200707391
NM_001378615.1(CC2D2A):c.2774G>T (p.Arg925Leu) rs200707391
NM_001378615.1(CC2D2A):c.278del (p.Thr93fs)
NM_001378615.1(CC2D2A):c.2830-1G>A rs2475046362
NM_001378615.1(CC2D2A):c.2923-1G>A rs2475051413
NM_001378615.1(CC2D2A):c.3014+1del
NM_001378615.1(CC2D2A):c.3015-1G>C rs2475061426
NM_001378615.1(CC2D2A):c.3084del (p.Lys1029fs) rs386833749
NM_001378615.1(CC2D2A):c.3100del (p.Gln1034fs)
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 rs749583615
NM_001378615.1(CC2D2A):c.3183-1G>T rs1719930798
NM_001378615.1(CC2D2A):c.3211_3220del (p.Arg1071fs) rs1719933188
NM_001378615.1(CC2D2A):c.3280del (p.Leu1094fs)
NM_001378615.1(CC2D2A):c.3289-2A>C
NM_001378615.1(CC2D2A):c.3310G>A (p.Glu1104Lys) rs2109070604
NM_001378615.1(CC2D2A):c.3317_3318del (p.Ser1106fs)
NM_001378615.1(CC2D2A):c.336+1G>C
NM_001378615.1(CC2D2A):c.3365C>G (p.Pro1122Arg) rs886059182
NM_001378615.1(CC2D2A):c.337-2A>C rs1323514351
NM_001378615.1(CC2D2A):c.3495+1G>A
NM_001378615.1(CC2D2A):c.3522_3523insTG (p.His1175fs) rs386833754
NM_001378615.1(CC2D2A):c.3584del (p.Phe1195fs) rs386833756
NM_001378615.1(CC2D2A):c.3588del (p.Ala1197fs) rs982352950
NM_001378615.1(CC2D2A):c.3595-1G>T rs2475092769
NM_001378615.1(CC2D2A):c.3679_3682del (p.Asp1227fs) rs1213164662
NM_001378615.1(CC2D2A):c.3774dup (p.Glu1259Ter) rs386833757
NM_001378615.1(CC2D2A):c.3784G>T (p.Glu1262Ter)
NM_001378615.1(CC2D2A):c.3893T>A (p.Val1298Asp) rs386833758
NM_001378615.1(CC2D2A):c.391_404delinsC (p.Ser133fs)
NM_001378615.1(CC2D2A):c.3920_3960dup (p.Leu1321Ter)
NM_001378615.1(CC2D2A):c.3929C>T (p.Pro1310Leu) rs1720595936
NM_001378615.1(CC2D2A):c.3975+1G>T rs1553842818
NM_001378615.1(CC2D2A):c.3975+4_3975+7del rs386833759
NM_001378615.1(CC2D2A):c.3976-3C>A rs576298659
NM_001378615.1(CC2D2A):c.3992A>G (p.Tyr1331Cys) rs1720848250
NM_001378615.1(CC2D2A):c.4065+1G>A rs1472068665
NM_001378615.1(CC2D2A):c.4065+1G>T
NM_001378615.1(CC2D2A):c.4065+2T>C rs1179041639
NM_001378615.1(CC2D2A):c.4066-1G>A rs867390302
NM_001378615.1(CC2D2A):c.4066-2del
NM_001378615.1(CC2D2A):c.4084dup (p.Ala1362fs) rs1313708855
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.41del (p.Glu14fs)
NM_001378615.1(CC2D2A):c.4289T>C (p.Val1430Ala) rs863225168
NM_001378615.1(CC2D2A):c.4303_4314+1del rs2475128123
NM_001378615.1(CC2D2A):c.4315-1G>T
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.4522del (p.Ile1508fs) rs775292940
NM_001378615.1(CC2D2A):c.4522dup (p.Ile1508fs) rs775292940
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) rs118204052
NM_001378615.1(CC2D2A):c.4590del (p.Leu1531fs)
NM_001378615.1(CC2D2A):c.4609dup (p.Ser1537fs)
NM_001378615.1(CC2D2A):c.463C>T (p.Gln155Ter) rs2474909050
NM_001378615.1(CC2D2A):c.4645del (p.Glu1549fs)
NM_001378615.1(CC2D2A):c.540+1G>A rs1296652053
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del) rs386833764
NM_001378615.1(CC2D2A):c.715del (p.Met239fs) rs754985710
NM_001378615.1(CC2D2A):c.717+1G>A rs1027674181
NM_001378615.1(CC2D2A):c.717+1G>T rs1027674181
NM_001378615.1(CC2D2A):c.834del (p.Leu279fs) rs386833765
NM_001378615.1(CC2D2A):c.839del (p.Gln280fs) rs2474921234
NM_001378615.1(CC2D2A):c.977del (p.Asn326fs)
NM_001378615.1(CC2D2A):c.979C>T (p.Gln327Ter)

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