ClinVar Miner

List of variants in gene CRTAP reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 217
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HGVS dbSNP gnomAD frequency
NM_006371.5(CRTAP):c.*2474T>G rs78745278 0.01414
NM_006371.5(CRTAP):c.472-257G>A rs115477635 0.01350
NM_006371.5(CRTAP):c.1068+161T>C rs192438149 0.01226
NM_006371.5(CRTAP):c.794-240A>G rs191559796 0.00625
NM_006371.5(CRTAP):c.923-171G>A rs72857473 0.00585
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.622-81G>A rs145267227 0.00510
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.1069-202A>G rs60018840 0.00468
NM_006371.5(CRTAP):c.*2943A>G rs115684525 0.00447
NM_006371.5(CRTAP):c.*3454C>T rs140429132 0.00417
NM_006371.5(CRTAP):c.*7G>A rs145383822 0.00372
NM_006371.5(CRTAP):c.*288C>T rs111603077 0.00336
NM_006371.5(CRTAP):c.621+188G>A rs116647490 0.00325
NM_006371.5(CRTAP):c.621+314C>G rs116366735 0.00324
NM_006371.5(CRTAP):c.622-280T>C rs116418466 0.00324
NM_006371.5(CRTAP):c.621+98T>C rs149781980 0.00322
NM_006371.5(CRTAP):c.471+254C>T rs77397972 0.00311
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.*1124C>A rs570473174 0.00096
NM_006371.5(CRTAP):c.641T>C (p.Val214Ala) rs146124454 0.00061
NM_006371.5(CRTAP):c.655G>A (p.Gly219Ser) rs145048208 0.00056
NM_006371.5(CRTAP):c.1153-8T>C rs200397785 0.00026
NM_006371.5(CRTAP):c.226T>C (p.Leu76=) rs368879937 0.00018
NM_006371.5(CRTAP):c.654C>T (p.Asn218=) rs144486582 0.00016
NM_006371.5(CRTAP):c.121C>T (p.Leu41=) rs904106169 0.00009
NM_006371.5(CRTAP):c.*1861A>G rs553553619 0.00007
NM_006371.5(CRTAP):c.456G>C (p.Gln152His) rs779447329 0.00006
NM_006371.5(CRTAP):c.756G>A (p.Glu252=) rs116519163 0.00006
NM_006371.5(CRTAP):c.922+8A>G rs368259273 0.00006
NM_006371.5(CRTAP):c.372G>A (p.Gln124=) rs755889115 0.00005
NM_006371.5(CRTAP):c.471+13C>T rs770975997 0.00005
NM_006371.5(CRTAP):c.1111C>T (p.Leu371=) rs377713659 0.00004
NM_006371.5(CRTAP):c.111A>G (p.Pro37=) rs772038741 0.00004
NM_006371.5(CRTAP):c.231G>A (p.Leu77=) rs576184132 0.00004
NM_006371.5(CRTAP):c.312C>G (p.Pro104=) rs904096765 0.00004
NM_006371.5(CRTAP):c.339G>C (p.Leu113=) rs960380634 0.00004
NM_006371.5(CRTAP):c.376C>T (p.Leu126=) rs756961672 0.00003
NM_006371.5(CRTAP):c.435C>T (p.Arg145=) rs753670727 0.00003
NM_006371.5(CRTAP):c.1068+11T>C rs761750861 0.00002
NM_006371.5(CRTAP):c.1182C>G (p.Leu394=) rs1393973409 0.00002
NM_006371.5(CRTAP):c.132C>T (p.Leu44=) rs114946269 0.00002
NM_006371.5(CRTAP):c.282C>T (p.Pro94=) rs540998437 0.00002
NM_006371.5(CRTAP):c.471+9G>T rs763097630 0.00002
NM_006371.5(CRTAP):c.582C>T (p.Ala194=) rs149165428 0.00002
NM_006371.5(CRTAP):c.585G>A (p.Glu195=) rs1208285123 0.00002
NM_006371.5(CRTAP):c.636A>C (p.Arg212=) rs749259974 0.00002
NM_006371.5(CRTAP):c.702C>T (p.Pro234=) rs371017739 0.00002
NM_006371.5(CRTAP):c.744G>A (p.Glu248=) rs371845227 0.00002
NM_006371.5(CRTAP):c.114G>T (p.Arg38=) rs746788797 0.00001
NM_006371.5(CRTAP):c.1152+10del rs1167597599 0.00001
NM_006371.5(CRTAP):c.189C>T (p.Ser63=) rs1178355967 0.00001
NM_006371.5(CRTAP):c.249C>T (p.Phe83=) rs781058476 0.00001
NM_006371.5(CRTAP):c.270C>T (p.Ala90=) rs769515796 0.00001
NM_006371.5(CRTAP):c.348G>C (p.Ala116=) rs1176028547 0.00001
NM_006371.5(CRTAP):c.402C>T (p.Pro134=) rs771525192 0.00001
NM_006371.5(CRTAP):c.420G>A (p.Ala140=) rs773473218 0.00001
NM_006371.5(CRTAP):c.471+14G>A rs1057480002 0.00001
NM_006371.5(CRTAP):c.495C>T (p.Ile165=) rs962349827 0.00001
NM_006371.5(CRTAP):c.516A>G (p.Leu172=) rs372425538 0.00001
NM_006371.5(CRTAP):c.528T>G (p.Pro176=) rs774680682 0.00001
NM_006371.5(CRTAP):c.531T>C (p.Asp177=) rs571683222 0.00001
NM_006371.5(CRTAP):c.609C>G (p.Thr203=) rs778959807 0.00001
NM_006371.5(CRTAP):c.622-15C>A rs553702665 0.00001
NM_006371.5(CRTAP):c.667A>C (p.Arg223=) rs780393476 0.00001
NM_006371.5(CRTAP):c.72G>A (p.Gly24=) rs776316982 0.00001
NM_006371.5(CRTAP):c.793+17T>A rs767057725 0.00001
NM_006371.5(CRTAP):c.900C>T (p.Tyr300=) rs776879779 0.00001
NM_006371.5(CRTAP):c.923-19C>T rs1194244572 0.00001
NM_006371.5(CRTAP):c.969C>T (p.Leu323=) rs1318916871 0.00001
NM_006371.5(CRTAP):c.1005G>C (p.Leu335=)
NM_006371.5(CRTAP):c.1008G>A (p.Val336=)
NM_006371.5(CRTAP):c.1023C>T (p.His341=)
NM_006371.5(CRTAP):c.1059G>A (p.Gln353=) rs2125603921
NM_006371.5(CRTAP):c.105C>T (p.Ser35=) rs960183840
NM_006371.5(CRTAP):c.1068+13C>T
NM_006371.5(CRTAP):c.1068+14A>C
NM_006371.5(CRTAP):c.1068+14A>T
NM_006371.5(CRTAP):c.1068+15C>T
NM_006371.5(CRTAP):c.1068+18C>T
NM_006371.5(CRTAP):c.1069-12G>T
NM_006371.5(CRTAP):c.108C>T (p.Phe36=)
NM_006371.5(CRTAP):c.1095C>T (p.Thr365=)
NM_006371.5(CRTAP):c.111A>C (p.Pro37=)
NM_006371.5(CRTAP):c.1128G>A (p.Lys376=) rs1575519242
NM_006371.5(CRTAP):c.114G>A (p.Arg38=)
NM_006371.5(CRTAP):c.114G>C (p.Arg38=)
NM_006371.5(CRTAP):c.1152+12T>A
NM_006371.5(CRTAP):c.1155A>C (p.Gly385=)
NM_006371.5(CRTAP):c.1197G>A (p.Glu399=)
NM_006371.5(CRTAP):c.129G>A (p.Pro43=)
NM_006371.5(CRTAP):c.141C>A (p.Ala47=)
NM_006371.5(CRTAP):c.150C>T (p.His50=)
NM_006371.5(CRTAP):c.162G>A (p.Lys54=)
NM_006371.5(CRTAP):c.168C>T (p.Ser56=)
NM_006371.5(CRTAP):c.183C>A (p.Ala61=)
NM_006371.5(CRTAP):c.195C>A (p.Gly65=)
NM_006371.5(CRTAP):c.195C>T (p.Gly65=)
NM_006371.5(CRTAP):c.204G>A (p.Glu68=)
NM_006371.5(CRTAP):c.207C>A (p.Ile69=)
NM_006371.5(CRTAP):c.210C>T (p.Ser70=) rs2125595939
NM_006371.5(CRTAP):c.216G>A (p.Arg72=) rs1227411759
NM_006371.5(CRTAP):c.217C>T (p.Leu73=)
NM_006371.5(CRTAP):c.222C>T (p.His74=)
NM_006371.5(CRTAP):c.234C>G (p.Arg78=)
NM_006371.5(CRTAP):c.234C>T (p.Arg78=)
NM_006371.5(CRTAP):c.237C>T (p.Asp79=)
NM_006371.5(CRTAP):c.246C>G (p.Ala82=)
NM_006371.5(CRTAP):c.255C>T (p.His85=)
NM_006371.5(CRTAP):c.276G>A (p.Pro92=)
NM_006371.5(CRTAP):c.279G>A (p.Gln93=)
NM_006371.5(CRTAP):c.288C>T (p.Pro96=)
NM_006371.5(CRTAP):c.291C>T (p.Ala97=)
NM_006371.5(CRTAP):c.303C>T (p.Ala101=) rs2125596011
NM_006371.5(CRTAP):c.312C>A (p.Pro104=) rs904096765
NM_006371.5(CRTAP):c.312C>T (p.Pro104=)
NM_006371.5(CRTAP):c.321C>G (p.Arg107=)
NM_006371.5(CRTAP):c.330G>A (p.Gly110=)
NM_006371.5(CRTAP):c.357C>T (p.Leu119=) rs2125596063
NM_006371.5(CRTAP):c.360G>A (p.Lys120=)
NM_006371.5(CRTAP):c.363C>T (p.Arg121=)
NM_006371.5(CRTAP):c.375C>G (p.Gly125=)
NM_006371.5(CRTAP):c.396C>G (p.Ser132=) rs1453368481
NM_006371.5(CRTAP):c.396C>T (p.Ser132=)
NM_006371.5(CRTAP):c.417G>A (p.Leu139=)
NM_006371.5(CRTAP):c.420G>T (p.Ala140=) rs773473218
NM_006371.5(CRTAP):c.423C>T (p.Asp141=)
NM_006371.5(CRTAP):c.429G>A (p.Gln143=)
NM_006371.5(CRTAP):c.435C>G (p.Arg145=)
NM_006371.5(CRTAP):c.441C>G (p.Pro147=) rs962653319
NM_006371.5(CRTAP):c.444C>T (p.Tyr148=)
NM_006371.5(CRTAP):c.447G>A (p.Lys149=)
NM_006371.5(CRTAP):c.450C>T (p.Phe150=) rs1701320948
NM_006371.5(CRTAP):c.451C>T (p.Leu151=) rs202118861
NM_006371.5(CRTAP):c.453G>A (p.Leu151=) rs1472276462
NM_006371.5(CRTAP):c.459C>T (p.Phe153=)
NM_006371.5(CRTAP):c.471+11C>T
NM_006371.5(CRTAP):c.471+12T>G
NM_006371.5(CRTAP):c.471+14G>T
NM_006371.5(CRTAP):c.471+18C>A rs759716355
NM_006371.5(CRTAP):c.471+18C>G rs759716355
NM_006371.5(CRTAP):c.471+18C>T rs759716355
NM_006371.5(CRTAP):c.471+19G>T
NM_006371.5(CRTAP):c.471+7C>T
NM_006371.5(CRTAP):c.471+8C>T
NM_006371.5(CRTAP):c.471+9G>C
NM_006371.5(CRTAP):c.472-1011C>T
NM_006371.5(CRTAP):c.472-12T>G
NM_006371.5(CRTAP):c.472-13T>C
NM_006371.5(CRTAP):c.472-17G>A
NM_006371.5(CRTAP):c.472-4T>G
NM_006371.5(CRTAP):c.472-7C>A
NM_006371.5(CRTAP):c.477T>C (p.Asn159=)
NM_006371.5(CRTAP):c.480T>C (p.Asn160=)
NM_006371.5(CRTAP):c.486C>T (p.Pro162=)
NM_006371.5(CRTAP):c.492C>T (p.Ala164=)
NM_006371.5(CRTAP):c.495C>A (p.Ile165=)
NM_006371.5(CRTAP):c.498C>T (p.Ala166=) rs1309501247
NM_006371.5(CRTAP):c.513T>C (p.Phe171=)
NM_006371.5(CRTAP):c.516A>C (p.Leu172=)
NM_006371.5(CRTAP):c.549G>A (p.Arg183=)
NM_006371.5(CRTAP):c.552C>T (p.Asn184=)
NM_006371.5(CRTAP):c.558A>T (p.Ala186=) rs35357409
NM_006371.5(CRTAP):c.570C>T (p.Ser190=)
NM_006371.5(CRTAP):c.601C>T (p.Leu201=)
NM_006371.5(CRTAP):c.621+15T>G
NM_006371.5(CRTAP):c.621+17A>G
NM_006371.5(CRTAP):c.621+8T>C rs2125598738
NM_006371.5(CRTAP):c.622-18C>T rs2125600371
NM_006371.5(CRTAP):c.622-7C>A
NM_006371.5(CRTAP):c.627G>A (p.Leu209=)
NM_006371.5(CRTAP):c.633C>T (p.Ile211=)
NM_006371.5(CRTAP):c.643C>A (p.Arg215=)
NM_006371.5(CRTAP):c.648A>G (p.Ala216=)
NM_006371.5(CRTAP):c.657T>G (p.Gly219=)
NM_006371.5(CRTAP):c.723C>T (p.Tyr241=)
NM_006371.5(CRTAP):c.726G>A (p.Glu242=)
NM_006371.5(CRTAP):c.741C>T (p.Cys247=)
NM_006371.5(CRTAP):c.753G>A (p.Arg251=)
NM_006371.5(CRTAP):c.759C>T (p.Ile253=) rs752798767
NM_006371.5(CRTAP):c.75C>T (p.Arg25=)
NM_006371.5(CRTAP):c.783T>G (p.Leu261=)
NM_006371.5(CRTAP):c.793+11G>A
NM_006371.5(CRTAP):c.793+16A>G
NM_006371.5(CRTAP):c.793+19G>A
NM_006371.5(CRTAP):c.794-12G>T
NM_006371.5(CRTAP):c.794-14_794-13del rs770107661
NM_006371.5(CRTAP):c.794-16A>G
NM_006371.5(CRTAP):c.794-19T>C
NM_006371.5(CRTAP):c.804A>G (p.Val268=)
NM_006371.5(CRTAP):c.807A>G (p.Glu269=)
NM_006371.5(CRTAP):c.811C>T (p.Leu271=)
NM_006371.5(CRTAP):c.81A>G (p.Gln27=)
NM_006371.5(CRTAP):c.855A>T (p.Ile285=)
NM_006371.5(CRTAP):c.867G>A (p.Pro289=) rs746374230
NM_006371.5(CRTAP):c.888C>A (p.Thr296=)
NM_006371.5(CRTAP):c.909T>C (p.Phe303=)
NM_006371.5(CRTAP):c.918T>C (p.Tyr306=) rs140613561
NM_006371.5(CRTAP):c.922+14del
NM_006371.5(CRTAP):c.922+15G>A
NM_006371.5(CRTAP):c.922+17G>A
NM_006371.5(CRTAP):c.922+18A>G
NM_006371.5(CRTAP):c.923-10C>T
NM_006371.5(CRTAP):c.923-4C>G
NM_006371.5(CRTAP):c.927C>T (p.Asn309=)
NM_006371.5(CRTAP):c.930C>T (p.Asp310=) rs762039541
NM_006371.5(CRTAP):c.93C>T (p.Tyr31=)
NM_006371.5(CRTAP):c.954A>C (p.Ala318=)
NM_006371.5(CRTAP):c.96C>T (p.Ser32=)
NM_006371.5(CRTAP):c.975T>C (p.Asp325=)

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