ClinVar Miner

List of variants in gene CIT reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 239
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HGVS dbSNP gnomAD frequency
NM_001206999.2(CIT):c.2209-109A>C rs203327 0.85401
NM_001206999.2(CIT):c.3324A>G (p.Arg1108=) rs278109 0.84628
NM_001206999.2(CIT):c.958-264T>C rs450902 0.73507
NM_001206999.2(CIT):c.659+279A>G rs280588 0.63212
NM_001206999.2(CIT):c.753+47A>G rs4767849 0.60554
NM_001206999.2(CIT):c.4003+96C>T rs2285595 0.59681
NM_001206999.2(CIT):c.3840+80G>A rs7299963 0.59606
NM_001206999.2(CIT):c.3733-139C>A rs3213625 0.59604
NM_001206999.2(CIT):c.3733-151C>T rs3213626 0.59603
NM_001206999.2(CIT):c.2880T>C (p.Ala960=) rs904655 0.54813
NM_001206999.2(CIT):c.2904+167T>C rs1318272 0.51106
NM_001206999.2(CIT):c.2871A>G (p.Thr957=) rs904654 0.50992
NM_001206999.2(CIT):c.2082+237C>T rs203332 0.50841
NM_001206999.2(CIT):c.1665+276G>A rs393773 0.50810
NM_001206999.2(CIT):c.2082+304T>G rs203331 0.50772
NM_001206999.2(CIT):c.2083-297A>G rs10849696 0.49052
NM_001206999.2(CIT):c.1665+40T>C rs440299 0.47009
NM_001206999.2(CIT):c.1888-193T>C rs7967982 0.46223
NM_001206999.2(CIT):c.1546-148G>A rs385959 0.44667
NM_001206999.2(CIT):c.2531+182G>C rs2074052 0.44255
NM_001206999.2(CIT):c.1545+260C>T rs2240309 0.43437
NM_001206999.2(CIT):c.1545+76G>A rs2240310 0.40252
NM_001206999.2(CIT):c.4685-44G>A rs804667 0.26866
NM_001206999.2(CIT):c.5702+64C>A rs278126 0.26522
NM_001206999.2(CIT):c.4077C>T (p.Ser1359=) rs278102 0.24929
NM_001206999.2(CIT):c.3157-11C>T rs11064891 0.24533
NM_001206999.2(CIT):c.2706+93G>C rs10849695 0.22730
NM_001206999.2(CIT):c.957+274G>A rs7979697 0.16338
NM_001206999.2(CIT):c.4579+104A>G rs2285594 0.14542
NM_001206999.2(CIT):c.5072-169A>T rs73412189 0.14428
NM_001206999.2(CIT):c.4169-261G>A rs7297192 0.13629
NM_001206999.2(CIT):c.4854+134C>G rs78364534 0.11576
NM_001206999.2(CIT):c.5072-229T>C rs56079847 0.10912
NM_001206999.2(CIT):c.5208C>G (p.Gly1736=) rs56158046 0.10144
NM_001206999.2(CIT):c.5212-223G>A rs60295384 0.10085
NM_001206999.2(CIT):c.4854+36dup rs113303356 0.09571
NM_001206999.2(CIT):c.2707-7G>C rs56336823 0.09503
NM_001206999.2(CIT):c.5624-70A>G rs60831257 0.09483
NM_001206999.2(CIT):c.4488-72C>G rs7136842 0.09405
NM_001206999.2(CIT):c.-13-319G>A rs56233820 0.08536
NM_001206999.2(CIT):c.3487-39C>G rs7311108 0.06943
NM_001206999.2(CIT):c.415-114C>T rs59497831 0.06820
NM_001206999.2(CIT):c.5623+244C>T rs60754976 0.06595
NM_001206999.2(CIT):c.3351-85C>T rs76014845 0.06529
NM_001206999.2(CIT):c.3487-86C>T rs7311120 0.06520
NM_001206999.2(CIT):c.414+102C>T rs7304029 0.06236
NM_001206999.2(CIT):c.2305-155C>T rs76924716 0.05766
NM_001206999.2(CIT):c.4168+225T>C rs112115558 0.05239
NM_001206999.2(CIT):c.5542+184G>C rs58026891 0.05182
NM_001206999.2(CIT):c.414+266G>A rs7966776 0.05117
NM_001206999.2(CIT):c.3156+69C>T rs112443341 0.04887
NM_001206999.2(CIT):c.3156+59G>T rs111982000 0.04884
NM_001206999.2(CIT):c.5367A>C (p.Gly1789=) rs34140357 0.04629
NM_001206999.2(CIT):c.239-138A>G rs60782728 0.04519
NM_001206999.2(CIT):c.5543-235C>T rs9738242 0.04327
NM_001206999.2(CIT):c.5072-178T>A rs188358766 0.03869
NM_001206999.2(CIT):c.3733-123T>G rs74597846 0.03851
NM_001206999.2(CIT):c.1942-192T>C rs7969645 0.03276
NM_001206999.2(CIT):c.5211+321G>C rs79851927 0.03033
NM_001206999.2(CIT):c.5167A>G (p.Ile1723Val) rs56303497 0.03026
NM_001206999.2(CIT):c.4935+19C>T rs78839595 0.02958
NM_001206999.2(CIT):c.5072-41C>T rs79581232 0.02929
NM_001206999.2(CIT):c.4917G>A (p.Thr1639=) rs35490437 0.02923
NM_001206999.2(CIT):c.5543-223T>C rs143647522 0.02873
NM_001206999.2(CIT):c.4854+241T>C rs76417198 0.02859
NM_001206999.2(CIT):c.4169-301G>A rs76024602 0.02799
NM_001206999.2(CIT):c.1666-289A>G rs112996189 0.02775
NM_001206999.2(CIT):c.6186+221G>A rs111356250 0.02630
NM_001206999.2(CIT):c.20G>A (p.Gly7Glu) rs36054900 0.02589
NM_001206999.2(CIT):c.754-164A>G rs73215397 0.02551
NM_001206999.2(CIT):c.1545+170G>A rs57991641 0.02387
NM_001206999.2(CIT):c.2187G>A (p.Gln729=) rs56315024 0.02385
NM_001206999.2(CIT):c.2082+38C>T rs60348225 0.02194
NM_001206999.2(CIT):c.2082+52G>T rs60368920 0.02192
NM_001206999.2(CIT):c.3487-307G>A rs112471530 0.02058
NM_001206999.2(CIT):c.5305-211T>C rs141110994 0.02052
NM_001206999.2(CIT):c.958-215G>A rs75442092 0.01794
NM_001206999.2(CIT):c.5882+134C>T rs115618564 0.01767
NM_001206999.2(CIT):c.2532-273G>A rs77298113 0.01721
NM_001206999.2(CIT):c.3733-130T>A rs76961840 0.01691
NM_001206999.2(CIT):c.4855-56T>C rs76381964 0.01685
NM_001206999.2(CIT):c.5169T>A (p.Ile1723=) rs56167781 0.01674
NM_001206999.2(CIT):c.5212-105G>T rs77334811 0.01671
NM_001206999.2(CIT):c.958-88G>A rs73418551 0.01650
NM_001206999.2(CIT):c.690C>T (p.Asp230=) rs17442937 0.01589
NM_001206999.2(CIT):c.3487-147C>T rs117200164 0.01563
NM_001206999.2(CIT):c.2083-66C>T rs76015748 0.01551
NM_001206999.2(CIT):c.958-127C>T rs75930165 0.01520
NM_001206999.2(CIT):c.1296-53A>T rs73215386 0.01504
NM_001206999.2(CIT):c.5542+323C>G rs78424993 0.01490
NM_001206999.2(CIT):c.923C>G (p.Ser308Cys) rs55707601 0.01484
NM_001206999.2(CIT):c.4168+49G>A rs77841771 0.01472
NM_001206999.2(CIT):c.239-164C>T rs143098430 0.01443
NM_001206999.2(CIT):c.5304+262C>T rs76579904 0.01431
NM_001206999.2(CIT):c.2905-181G>A rs75812746 0.01383
NM_001206999.2(CIT):c.1401+140C>T rs17527257 0.01338
NM_001206999.2(CIT):c.414+229T>G rs140500602 0.01304
NM_001206999.2(CIT):c.3732+249C>T rs150453375 0.01240
NM_001206999.2(CIT):c.3177C>A (p.Thr1059=) rs35120949 0.01236
NM_001206999.2(CIT):c.3592-191T>A rs73414104 0.01210
NM_001206999.2(CIT):c.5071+64G>A rs149076196 0.01124
NM_001206999.2(CIT):c.5304+44C>A rs73412182 0.01014
NM_001206999.2(CIT):c.4580-62T>C rs116261730 0.00980
NM_001206999.2(CIT):c.659+100A>T rs280587 0.00919
NM_001206999.2(CIT):c.-13-184C>T rs80282730 0.00886
NM_001206999.2(CIT):c.1666-36C>T rs203363 0.00886
NM_001206999.2(CIT):c.4487+75G>A rs60295422 0.00885
NM_001206999.2(CIT):c.6186+208A>G rs148686024 0.00850
NM_001206999.2(CIT):c.1111+83A>G rs79086492 0.00737
NM_001206999.2(CIT):c.1112-52C>T rs115940810 0.00697
NM_001206999.2(CIT):c.96+228C>T rs148416885 0.00690
NM_001206999.2(CIT):c.2082+180A>G rs203333 0.00688
NM_001206999.2(CIT):c.5868G>A (p.Pro1956=) rs35431237 0.00675
NM_001206999.2(CIT):c.452G>A (p.Arg151Gln) rs61735296 0.00659
NM_001206999.2(CIT):c.5955G>T (p.Pro1985=) rs139121341 0.00560
NM_001206999.2(CIT):c.5623+25T>C rs79553603 0.00557
NM_001206999.2(CIT):c.1942-257G>A rs137941768 0.00536
NM_001206999.2(CIT):c.4224C>T (p.Asn1408=) rs34105832 0.00524
NM_001206999.2(CIT):c.26G>A (p.Arg9Gln) rs56193743 0.00493
NM_001206999.2(CIT):c.5623+251A>C rs188876052 0.00488
NM_001206999.2(CIT):c.3006C>T (p.Asn1002=) rs79892909 0.00484
NM_001206999.2(CIT):c.3841-144C>T rs181397162 0.00434
NM_001206999.2(CIT):c.3841-203G>A rs145024746 0.00395
NM_001206999.2(CIT):c.5413+22G>A rs114315762 0.00379
NM_001206999.2(CIT):c.4169-67G>T rs116343704 0.00377
NM_001206999.2(CIT):c.4307-128C>T rs184199114 0.00374
NM_001206999.2(CIT):c.5305-108A>G rs115257177 0.00344
NM_001206999.2(CIT):c.5624-23G>A rs115111326 0.00341
NM_001206999.2(CIT):c.4488-53C>T rs114508496 0.00340
NM_001206999.2(CIT):c.2208+305C>T rs116726778 0.00337
NM_001206999.2(CIT):c.4115T>C (p.Met1372Thr) rs116251862 0.00310
NM_001206999.2(CIT):c.2905-92C>T rs148885124 0.00282
NM_001206999.2(CIT):c.3591+342T>C rs191365624 0.00222
NM_001206999.2(CIT):c.1296-5C>T rs182092782 0.00202
NM_001206999.2(CIT):c.5506G>A (p.Ala1836Thr) rs149158991 0.00198
NM_001206999.2(CIT):c.4935+41A>G rs278120 0.00190
NM_001206999.2(CIT):c.6187-24C>T rs188629304 0.00189
NM_001206999.2(CIT):c.4053C>T (p.Thr1351=) rs61735286 0.00173
NM_001206999.2(CIT):c.3429C>T (p.Leu1143=) rs55993032 0.00134
NM_001206999.2(CIT):c.6060A>G (p.Arg2020=) rs150770539 0.00130
NM_001206999.2(CIT):c.414+37G>A rs59515976 0.00104
NM_001206999.2(CIT):c.5072-6G>T rs200862487 0.00084
NM_001206999.2(CIT):c.243C>T (p.Ser81=) rs139308004 0.00081
NM_001206999.2(CIT):c.2118A>G (p.Arg706=) rs56003249 0.00079
NM_001206999.2(CIT):c.4579+30T>C rs12579244 0.00079
NM_001206999.2(CIT):c.2007C>T (p.Ala669=) rs112550001 0.00077
NM_001206999.2(CIT):c.840C>T (p.Tyr280=) rs56011640 0.00066
NM_001206999.2(CIT):c.1029C>T (p.Cys343=) rs145804827 0.00063
NM_001206999.2(CIT):c.6189C>G (p.Val2063=) rs56212782 0.00049
NM_001206999.2(CIT):c.1876A>G (p.Lys626Glu) rs138430777 0.00048
NM_001206999.2(CIT):c.5624-261G>A rs144475221 0.00041
NM_001206999.2(CIT):c.94C>A (p.Gln32Lys) rs144883583 0.00039
NM_001206999.2(CIT):c.4056G>A (p.Ala1352=) rs140364771 0.00036
NM_001206999.2(CIT):c.1605A>G (p.Ala535=) rs780029082 0.00023
NM_001206999.2(CIT):c.2763A>G (p.Leu921=) rs151306013 0.00021
NM_001206999.2(CIT):c.4114A>G (p.Met1372Val) rs200875509 0.00021
NM_001206999.2(CIT):c.4168+5G>A rs375381151 0.00021
NM_001206999.2(CIT):c.3192G>T (p.Leu1064=) rs200314282 0.00019
NM_001206999.2(CIT):c.5999G>A (p.Arg2000His) rs200787337 0.00018
NM_001206999.2(CIT):c.504T>A (p.Asn168Lys) rs142505542 0.00016
NM_001206999.2(CIT):c.4393G>A (p.Glu1465Lys) rs150217898 0.00014
NM_001206999.2(CIT):c.4855-13C>T rs549043964 0.00012
NM_001206999.2(CIT):c.1742G>A (p.Arg581Gln) rs201303983 0.00010
NM_001206999.2(CIT):c.3430G>A (p.Ala1144Thr) rs146605071 0.00009
NM_001206999.2(CIT):c.3902A>G (p.Asn1301Ser) rs181807537 0.00009
NM_001206999.2(CIT):c.1214G>T (p.Ser405Ile) rs139829821 0.00008
NM_001206999.2(CIT):c.3271G>A (p.Val1091Ile) rs200184645 0.00007
NM_001206999.2(CIT):c.4691C>A (p.Pro1564Gln) rs564447434 0.00007
NM_001206999.2(CIT):c.5733G>A (p.Pro1911=) rs367573015 0.00005
NM_001206999.2(CIT):c.1106G>A (p.Arg369His) rs200303267 0.00004
NM_001206999.2(CIT):c.1959G>A (p.Thr653=) rs141771302 0.00004
NM_001206999.2(CIT):c.3372C>T (p.Ile1124=) rs776480559 0.00004
NM_001206999.2(CIT):c.250A>G (p.Ile84Val) rs773840051 0.00003
NM_001206999.2(CIT):c.4397C>A (p.Ala1466Asp) rs754251381 0.00003
NM_001206999.2(CIT):c.298A>G (p.Arg100Gly) rs549689058 0.00002
NM_001206999.2(CIT):c.4686T>C (p.Asp1562=) rs548588963 0.00002
NM_001206999.2(CIT):c.5491G>A (p.Val1831Met) rs768924501 0.00002
NM_001206999.2(CIT):c.2072T>C (p.Val691Ala) rs1566020550 0.00001
NM_001206999.2(CIT):c.2228G>A (p.Arg743Gln) rs959207549 0.00001
NM_001206999.2(CIT):c.2774T>A (p.Leu925Gln) rs756948376 0.00001
NM_001206999.2(CIT):c.3361G>A (p.Asp1121Asn) rs1489483077 0.00001
NM_001206999.2(CIT):c.4997C>A (p.Thr1666Asn) rs139059313 0.00001
NM_001206999.2(CIT):c.5238A>C (p.Ala1746=) rs561894355 0.00001
NM_001206999.2(CIT):c.67C>T (p.Arg23Trp) rs372379880 0.00001
NM_001206999.2(CIT):c.881A>G (p.Tyr294Cys) rs200024332 0.00001
NM_001206999.2(CIT):c.-13-96dup rs143726929
NM_001206999.2(CIT):c.1276G>C (p.Gly426Arg)
NM_001206999.2(CIT):c.1546-213dup rs35056083
NM_001206999.2(CIT):c.1873G>A (p.Ala625Thr) rs923215249
NM_001206999.2(CIT):c.1942-105del rs11437987
NM_001206999.2(CIT):c.1942-121dup rs11437987
NM_001206999.2(CIT):c.2208+254_2208+255del rs11295550
NM_001206999.2(CIT):c.2208+255del rs11295550
NM_001206999.2(CIT):c.2304+195del rs1372510083
NM_001206999.2(CIT):c.2304+198dup rs36109532
NM_001206999.2(CIT):c.2421+312del rs55758251
NM_001206999.2(CIT):c.2531+99del rs35168868
NM_001206999.2(CIT):c.2532-6del rs34851548
NM_001206999.2(CIT):c.2706+206dup rs371745879
NM_001206999.2(CIT):c.2706+238dup rs367882787
NM_001206999.2(CIT):c.2707-21CT[10] rs147146275
NM_001206999.2(CIT):c.2707-21CT[8] rs147146275
NM_001206999.2(CIT):c.2707-6TC[4] rs141931278
NM_001206999.2(CIT):c.2905-223A>T rs56101648
NM_001206999.2(CIT):c.3165G>C (p.Glu1055Asp) rs147388782
NM_001206999.2(CIT):c.3340A>G (p.Lys1114Glu) rs2501534618
NM_001206999.2(CIT):c.3350+40C>A rs112783625
NM_001206999.2(CIT):c.3350+40C>T rs112783625
NM_001206999.2(CIT):c.3350+5G>A rs1565958864
NM_001206999.2(CIT):c.3486+192G>T rs76448212
NM_001206999.2(CIT):c.3515T>A (p.Met1172Lys)
NM_001206999.2(CIT):c.3698G>A (p.Arg1233Lys) rs1957806995
NM_001206999.2(CIT):c.4068C>T (p.Ile1356=) rs56006347
NM_001206999.2(CIT):c.415-113_415-110dup rs34256172
NM_001206999.2(CIT):c.415-113_415-111dup rs34256172
NM_001206999.2(CIT):c.415-113_415-112dup rs34256172
NM_001206999.2(CIT):c.415-113dup rs34256172
NM_001206999.2(CIT):c.415-175_415-171del rs140800333
NM_001206999.2(CIT):c.4580C>T (p.Ala1527Val) rs748313870
NM_001206999.2(CIT):c.4666G>A (p.Ala1556Thr) rs751322516
NM_001206999.2(CIT):c.4685-56dup rs147851307
NM_001206999.2(CIT):c.4783C>T (p.Arg1595Cys) rs1165615595
NM_001206999.2(CIT):c.4999C>T (p.His1667Tyr) rs2500965652
NM_001206999.2(CIT):c.5211+130del rs58766664
NM_001206999.2(CIT):c.5305-151del rs113607985
NM_001206999.2(CIT):c.5305-163dup rs113607985
NM_001206999.2(CIT):c.5383G>A (p.Glu1795Lys) rs759976682
NM_001206999.2(CIT):c.5383G>C (p.Glu1795Gln) rs759976682
NM_001206999.2(CIT):c.5543-49C>G rs76850358
NM_001206999.2(CIT):c.6025C>T (p.Arg2009Cys) rs1486690726
NM_001206999.2(CIT):c.6186G>A (p.Lys2062=) rs2500718105
NM_001206999.2(CIT):c.6187-20CCT[3] rs10669112
NM_001206999.2(CIT):c.6192G>T (p.Trp2064Cys) rs2500687400
NM_001206999.2(CIT):c.754-173del rs11286691
NM_001206999.2(CIT):c.754-187_754-186dup rs11286691
NM_001206999.2(CIT):c.878C>T (p.Ala293Val) rs2502636973
NM_001206999.2(CIT):c.957+280C>T rs138689173
NM_001206999.2(CIT):c.958-104_958-103dup rs369299052
NM_001206999.2(CIT):c.958-104dup rs369299052

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