ClinVar Miner

List of variants in gene CRTAP reported by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 179
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HGVS dbSNP gnomAD frequency
NM_006371.5(CRTAP):c.*1858T>A rs4678476 0.93106
NM_006371.5(CRTAP):c.*3485G>A rs1132392 0.45631
NM_006371.5(CRTAP):c.1044G>A (p.Ser348=) rs1135128 0.36102
NM_006371.5(CRTAP):c.1032T>G (p.Thr344=) rs1135127 0.36088
NM_006371.5(CRTAP):c.*2416T>C rs1127898 0.27685
NM_006371.5(CRTAP):c.*1467G>A rs4678475 0.24367
NM_006371.5(CRTAP):c.534C>T (p.Asp178=) rs4076086 0.18059
NM_006371.5(CRTAP):c.213G>A (p.Leu71=) rs11558338 0.15448
NM_006371.5(CRTAP):c.*2147A>G rs4355234 0.13787
NM_006371.5(CRTAP):c.*3142G>A rs12635415 0.13012
NM_006371.5(CRTAP):c.*1582C>A rs1137463 0.11766
NM_006371.5(CRTAP):c.*4774C>T rs11925558 0.06783
NM_006371.5(CRTAP):c.*3949C>T rs72859106 0.05162
NM_006371.5(CRTAP):c.*4256A>G rs56401432 0.04639
NM_006371.5(CRTAP):c.*3793C>T rs72859105 0.04635
NM_006371.5(CRTAP):c.*2901G>C rs72857502 0.04627
NM_006371.5(CRTAP):c.*1919A>G rs4429578 0.04291
NM_006371.5(CRTAP):c.*269C>T rs143237314 0.03228
NM_006371.5(CRTAP):c.*3005G>A rs114186675 0.02392
NM_006371.5(CRTAP):c.*3243A>C rs114378448 0.02306
NM_006371.5(CRTAP):c.*3145A>G rs74503694 0.01992
NM_006371.5(CRTAP):c.*777C>A rs116759530 0.01795
NM_006371.5(CRTAP):c.*4623A>C rs75873340 0.01770
NM_006371.5(CRTAP):c.*2474T>G rs78745278 0.01414
NM_006371.5(CRTAP):c.*982A>G rs78409158 0.00708
NM_006371.5(CRTAP):c.*3464A>C rs144325894 0.00619
NM_006371.5(CRTAP):c.*3950G>A rs141093723 0.00541
NM_006371.5(CRTAP):c.*2876C>T rs147135876 0.00540
NM_006371.5(CRTAP):c.*4017G>A rs115504052 0.00534
NM_006371.5(CRTAP):c.*4129T>C rs76450273 0.00503
NM_006371.5(CRTAP):c.*4705G>T rs145711257 0.00483
NM_006371.5(CRTAP):c.*2943A>G rs115684525 0.00447
NM_006371.5(CRTAP):c.*1361G>A rs112399944 0.00432
NM_006371.5(CRTAP):c.*3454C>T rs140429132 0.00417
NM_006371.5(CRTAP):c.*288C>T rs111603077 0.00336
NM_006371.5(CRTAP):c.*4844C>T rs146565729 0.00302
NM_006371.5(CRTAP):c.*3221C>T rs552901003 0.00296
NM_006371.5(CRTAP):c.*1041C>T rs114487086 0.00282
NM_006371.5(CRTAP):c.1039C>T (p.Leu347Phe) rs115198029 0.00250
NM_006371.5(CRTAP):c.*31C>T rs149138748 0.00240
NM_006371.5(CRTAP):c.*2524G>A rs150800828 0.00234
NM_006371.5(CRTAP):c.732C>T (p.Leu244=) rs149119710 0.00178
NM_006371.5(CRTAP):c.*2674A>G rs528845478 0.00171
NM_006371.5(CRTAP):c.*1071G>T rs140601474 0.00160
NM_006371.5(CRTAP):c.*3720C>A rs62250520 0.00160
NM_006371.5(CRTAP):c.*5195C>A rs534020504 0.00128
NM_006371.5(CRTAP):c.*501C>T rs115581077 0.00127
NM_006371.5(CRTAP):c.*1124C>A rs570473174 0.00096
NM_006371.5(CRTAP):c.*2146C>A rs113966745 0.00086
NM_006371.5(CRTAP):c.*5223T>A rs192685869 0.00084
NM_006371.5(CRTAP):c.*3012G>A rs576963168 0.00083
NM_006371.5(CRTAP):c.446A>G (p.Lys149Arg) rs201564256 0.00080
NM_006371.5(CRTAP):c.451C>G (p.Leu151Val) rs202118861 0.00070
NM_006371.5(CRTAP):c.*3124G>A rs375326992 0.00069
NM_006371.5(CRTAP):c.*4459C>A rs560001702 0.00062
NM_006371.5(CRTAP):c.641T>C (p.Val214Ala) rs146124454 0.00061
NM_006371.5(CRTAP):c.*2456T>G rs566327751 0.00058
NM_006371.5(CRTAP):c.*4857A>C rs540853691 0.00053
NM_006371.5(CRTAP):c.*2956G>A rs547128745 0.00048
NM_006371.5(CRTAP):c.*4601T>C rs528767183 0.00048
NM_006371.5(CRTAP):c.*4994C>T rs760019010 0.00048
NM_006371.5(CRTAP):c.*225G>C rs886058347 0.00039
NM_006371.5(CRTAP):c.*1637G>C rs538128865 0.00035
NM_006371.5(CRTAP):c.*3788G>A rs772312868 0.00027
NM_006371.5(CRTAP):c.*3978T>C rs555292232 0.00023
NM_006371.5(CRTAP):c.*1460C>T rs768618170 0.00022
NM_006371.5(CRTAP):c.*1431C>T rs543450336 0.00021
NM_006371.5(CRTAP):c.*2129A>G rs557919030 0.00017
NM_006371.5(CRTAP):c.*5005G>T rs532876768 0.00017
NM_006371.5(CRTAP):c.*50C>G rs371999646 0.00016
NM_006371.5(CRTAP):c.654C>T (p.Asn218=) rs144486582 0.00016
NM_006371.5(CRTAP):c.*1397G>A rs528373518 0.00013
NM_006371.5(CRTAP):c.*991C>T rs886058355 0.00013
NM_006371.5(CRTAP):c.583G>A (p.Glu195Lys) rs201267683 0.00012
NM_006371.5(CRTAP):c.*2693C>T rs149468116 0.00011
NM_006371.5(CRTAP):c.*5190G>T rs901408269 0.00011
NM_006371.5(CRTAP):c.*539C>G rs750130051 0.00010
NM_006371.5(CRTAP):c.471+2C>A rs137853943 0.00010
NM_006371.5(CRTAP):c.*2679G>A rs547363446 0.00009
NM_006371.5(CRTAP):c.*293G>A rs939604527 0.00009
NM_006371.5(CRTAP):c.*3511G>C rs886058369 0.00008
NM_006371.5(CRTAP):c.*4836T>C rs568448045 0.00008
NM_006371.5(CRTAP):c.*1861A>G rs553553619 0.00007
NM_006371.5(CRTAP):c.*238G>A rs886058348 0.00006
NM_006371.5(CRTAP):c.*5048G>A rs886058376 0.00006
NM_006371.5(CRTAP):c.*422T>C rs763428960 0.00005
NM_006371.5(CRTAP):c.*1315C>T rs886058358 0.00004
NM_006371.5(CRTAP):c.*2968G>A rs1292526404 0.00004
NM_006371.5(CRTAP):c.*5313T>G rs886058379 0.00004
NM_006371.5(CRTAP):c.111A>G (p.Pro37=) rs772038741 0.00004
NM_006371.5(CRTAP):c.634C>T (p.Arg212Ter) rs137853944 0.00004
NM_006371.5(CRTAP):c.*4190C>T rs1427913520 0.00003
NM_006371.5(CRTAP):c.*4691T>C rs775051039 0.00003
NM_006371.5(CRTAP):c.*608G>A rs886058352 0.00003
NM_006371.5(CRTAP):c.*67C>A rs886058346 0.00003
NM_006371.5(CRTAP):c.*865C>G rs545771795 0.00003
NM_006371.5(CRTAP):c.143A>G (p.Tyr48Cys) rs768012717 0.00003
NM_006371.5(CRTAP):c.376C>T (p.Leu126=) rs756961672 0.00003
NM_006371.5(CRTAP):c.976C>G (p.Gln326Glu) rs116821774 0.00003
NM_006371.5(CRTAP):c.*1193A>G rs1026331026 0.00002
NM_006371.5(CRTAP):c.*2242A>C rs886058362 0.00002
NM_006371.5(CRTAP):c.*2687C>T rs565676142 0.00002
NM_006371.5(CRTAP):c.*3061C>G rs371938944 0.00002
NM_006371.5(CRTAP):c.*348A>G rs886058349 0.00002
NM_006371.5(CRTAP):c.*4422C>G rs373275402 0.00002
NM_006371.5(CRTAP):c.*4940G>C rs1323498830 0.00002
NM_006371.5(CRTAP):c.*4950A>G rs780502214 0.00002
NM_006371.5(CRTAP):c.*5134T>C rs958340124 0.00002
NM_006371.5(CRTAP):c.1068+11T>C rs761750861 0.00002
NM_006371.5(CRTAP):c.282C>T (p.Pro94=) rs540998437 0.00002
NM_006371.5(CRTAP):c.767T>G (p.Phe256Cys) rs139099707 0.00002
NM_006371.5(CRTAP):c.*1608A>G rs904905604 0.00001
NM_006371.5(CRTAP):c.*1614G>A rs886058360 0.00001
NM_006371.5(CRTAP):c.*1853A>G rs1430038230 0.00001
NM_006371.5(CRTAP):c.*2071A>G rs969150344 0.00001
NM_006371.5(CRTAP):c.*2113A>G rs774529962 0.00001
NM_006371.5(CRTAP):c.*2435T>G rs1370062497 0.00001
NM_006371.5(CRTAP):c.*2829C>G rs1412857097 0.00001
NM_006371.5(CRTAP):c.*2976C>T rs886058366 0.00001
NM_006371.5(CRTAP):c.*3113G>A rs886058367 0.00001
NM_006371.5(CRTAP):c.*3224T>C rs886058368 0.00001
NM_006371.5(CRTAP):c.*496A>G rs1414037282 0.00001
NM_006371.5(CRTAP):c.*5216G>A rs553161393 0.00001
NM_006371.5(CRTAP):c.*670G>A rs558551071 0.00001
NM_006371.5(CRTAP):c.1022A>G (p.His341Arg) rs781545232 0.00001
NM_006371.5(CRTAP):c.1138A>G (p.Met380Val) rs2030358355 0.00001
NM_006371.5(CRTAP):c.271G>C (p.Ala91Pro) rs886058345 0.00001
NM_006371.5(CRTAP):c.528T>G (p.Pro176=) rs774680682 0.00001
NM_006371.5(CRTAP):c.68C>T (p.Ala23Val) rs1401887028 0.00001
NM_006371.5(CRTAP):c.70G>A (p.Gly24Arg) rs763727738 0.00001
NM_006371.5(CRTAP):c.*1032del rs766461937
NM_006371.5(CRTAP):c.*1090_*1095dup rs5847775
NM_006371.5(CRTAP):c.*1181A>T rs556192429
NM_006371.5(CRTAP):c.*1254C>A rs886058357
NM_006371.5(CRTAP):c.*1564A>G rs886058359
NM_006371.5(CRTAP):c.*1606C>G rs2030655041
NM_006371.5(CRTAP):c.*2146C>T rs113966745
NM_006371.5(CRTAP):c.*2218C>T rs886058361
NM_006371.5(CRTAP):c.*2302G>A rs886058363
NM_006371.5(CRTAP):c.*2431G>A rs886058364
NM_006371.5(CRTAP):c.*2585G>C rs886058365
NM_006371.5(CRTAP):c.*2628G>A rs115744599
NM_006371.5(CRTAP):c.*2837G>T rs764661352
NM_006371.5(CRTAP):c.*3110G>C rs2030698620
NM_006371.5(CRTAP):c.*3332G>T rs535312612
NM_006371.5(CRTAP):c.*3588A>G rs1336476058
NM_006371.5(CRTAP):c.*3593_*3596del rs374340147
NM_006371.5(CRTAP):c.*3710T>C rs1575522291
NM_006371.5(CRTAP):c.*3731C>T rs561959158
NM_006371.5(CRTAP):c.*3891C>A rs4678478
NM_006371.5(CRTAP):c.*3891C>T rs4678478
NM_006371.5(CRTAP):c.*4099A>G rs886058370
NM_006371.5(CRTAP):c.*4124G>A rs183098032
NM_006371.5(CRTAP):c.*4124G>T rs183098032
NM_006371.5(CRTAP):c.*4137TAC[1] rs564250948
NM_006371.5(CRTAP):c.*4427A>G rs2030735903
NM_006371.5(CRTAP):c.*4457dup rs57153345
NM_006371.5(CRTAP):c.*4568C>T rs536756882
NM_006371.5(CRTAP):c.*4592T>C rs2030740279
NM_006371.5(CRTAP):c.*4647T>A rs886058373
NM_006371.5(CRTAP):c.*4705G>A rs145711257
NM_006371.5(CRTAP):c.*470_*471del rs556534357
NM_006371.5(CRTAP):c.*4783_*4786del rs886058374
NM_006371.5(CRTAP):c.*4786G>C rs1019554127
NM_006371.5(CRTAP):c.*4809A>G rs886058375
NM_006371.5(CRTAP):c.*5054A>G rs886058377
NM_006371.5(CRTAP):c.*5077A>G rs886058378
NM_006371.5(CRTAP):c.*5183C>A rs1284480065
NM_006371.5(CRTAP):c.*526G>C rs886058351
NM_006371.5(CRTAP):c.*69G>T rs2030606287
NM_006371.5(CRTAP):c.*703A>T rs886058353
NM_006371.5(CRTAP):c.*712A>T rs544339410
NM_006371.5(CRTAP):c.*910T>C rs886058354
NM_006371.5(CRTAP):c.104G>C (p.Ser35Thr) rs573867257
NM_006371.5(CRTAP):c.534C>G (p.Asp178Glu) rs4076086
NM_006371.5(CRTAP):c.558A>G (p.Ala186=) rs35357409
NM_006371.5(CRTAP):c.703G>A (p.Asp235Asn) rs770887829
NM_006371.5(CRTAP):c.756G>C (p.Glu252Asp) rs116519163
NM_006371.5(CRTAP):c.930C>T (p.Asp310=) rs762039541

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