ClinVar Miner

List of variants in gene CTRC reported as likely benign for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 209
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HGVS dbSNP gnomAD frequency
NM_007272.3(CTRC):c.555G>A (p.Thr185=) rs113087202 0.00097
NM_007272.3(CTRC):c.494-6C>T rs111790169 0.00096
NM_007272.3(CTRC):c.40+24G>A rs142888713 0.00071
NM_007272.3(CTRC):c.640-14C>T rs202049497 0.00060
NM_007272.3(CTRC):c.231-14C>T rs374364850 0.00046
NM_007272.3(CTRC):c.110G>A (p.Arg37Gln) rs145868278 0.00032
NM_007272.3(CTRC):c.231-15C>G rs1298564824 0.00029
NM_007272.3(CTRC):c.540G>T (p.Val180=) rs371479067 0.00021
NM_007272.3(CTRC):c.674A>C (p.Glu225Ala) rs201486613 0.00020
NM_007272.3(CTRC):c.216C>T (p.Ala72=) rs140059353 0.00019
NM_007272.3(CTRC):c.736C>T (p.Arg246Cys) rs200412314 0.00019
NM_007272.3(CTRC):c.27G>A (p.Ala9=) rs374821228 0.00016
NM_007272.3(CTRC):c.747G>A (p.Pro249=) rs150078209 0.00012
NM_007272.3(CTRC):c.550G>A (p.Ala184Thr) rs761546594 0.00009
NM_007272.3(CTRC):c.792+12C>A rs371799801 0.00009
NM_007272.3(CTRC):c.40+10G>A rs564455614 0.00008
NM_007272.3(CTRC):c.356+17C>G rs376786664 0.00007
NM_007272.3(CTRC):c.531G>A (p.Leu177=) rs751747891 0.00007
NM_007272.3(CTRC):c.39T>C (p.Cys13=) rs747431847 0.00006
NM_007272.3(CTRC):c.41-5C>A rs781284605 0.00006
NM_007272.3(CTRC):c.678C>T (p.Asn226=) rs777608312 0.00006
NM_007272.3(CTRC):c.493+3G>A rs772436044 0.00004
NM_007272.3(CTRC):c.549C>T (p.His183=) rs554399153 0.00004
NM_007272.3(CTRC):c.640-13C>T rs368477746 0.00004
NM_007272.3(CTRC):c.81C>T (p.Ser27=) rs749455108 0.00004
NM_007272.3(CTRC):c.174G>A (p.Thr58=) rs746721892 0.00003
NM_007272.3(CTRC):c.356+7G>C rs773334021 0.00003
NM_007272.3(CTRC):c.485G>A (p.Arg162His) rs775404479 0.00003
NM_007272.3(CTRC):c.69G>A (p.Pro23=) rs756394210 0.00003
NM_007272.3(CTRC):c.84C>T (p.Ala28=) rs779009847 0.00003
NM_007272.3(CTRC):c.133-19C>G rs777418401 0.00002
NM_007272.3(CTRC):c.493+10G>A rs766857870 0.00002
NM_007272.3(CTRC):c.493+13C>G rs754270976 0.00002
NM_007272.3(CTRC):c.494-13A>G rs762842599 0.00002
NM_007272.3(CTRC):c.768C>T (p.Ser256=) rs778166573 0.00002
NM_007272.3(CTRC):c.15T>C (p.Thr5=) rs1060504817 0.00001
NM_007272.3(CTRC):c.210C>A (p.Leu70=) rs766739002 0.00001
NM_007272.3(CTRC):c.230+7G>A rs754126755 0.00001
NM_007272.3(CTRC):c.264G>A (p.Lys88=) rs575397166 0.00001
NM_007272.3(CTRC):c.352T>C (p.Leu118=) rs557582431 0.00001
NM_007272.3(CTRC):c.369C>T (p.Ala123=) rs749606141 0.00001
NM_007272.3(CTRC):c.40+12G>C rs781396039 0.00001
NM_007272.3(CTRC):c.40+18G>A rs1708076823 0.00001
NM_007272.3(CTRC):c.41-6C>T rs372788092 0.00001
NM_007272.3(CTRC):c.462C>T (p.Pro154=) rs776457510 0.00001
NM_007272.3(CTRC):c.46A>G (p.Ser16Gly) rs765777463 0.00001
NM_007272.3(CTRC):c.474C>T (p.Thr158=) rs759334187 0.00001
NM_007272.3(CTRC):c.493+38G>A rs1488630264 0.00001
NM_007272.3(CTRC):c.493+9C>T rs199736095 0.00001
NM_007272.3(CTRC):c.595A>T (p.Thr199Ser) rs751977111 0.00001
NM_007272.3(CTRC):c.606C>T (p.Cys202=) rs543348635 0.00001
NM_007272.3(CTRC):c.639+45A>G rs776164776 0.00001
NM_007272.3(CTRC):c.648C>T (p.Ser216=) rs755130943 0.00001
NM_007272.3(CTRC):c.68C>T (p.Pro23Leu) rs533967597 0.00001
NM_007272.3(CTRC):c.777C>T (p.Ile259=) rs947267758 0.00001
NM_007272.3(CTRC):c.789C>T (p.Asn263=) rs762952174 0.00001
NM_007272.3(CTRC):c.-59C>T rs183658182
NM_007272.3(CTRC):c.103G>A (p.Asp35Asn)
NM_007272.3(CTRC):c.108C>T (p.Ala36=)
NM_007272.3(CTRC):c.111G>A (p.Arg37=)
NM_007272.3(CTRC):c.114C>T (p.Pro38=)
NM_007272.3(CTRC):c.12C>T (p.Ile4=)
NM_007272.3(CTRC):c.132+15G>A
NM_007272.3(CTRC):c.132+16G>C
NM_007272.3(CTRC):c.132+16G>T
NM_007272.3(CTRC):c.132+20G>A
NM_007272.3(CTRC):c.133-15C>T
NM_007272.3(CTRC):c.138C>T (p.Ser46=)
NM_007272.3(CTRC):c.144G>A (p.Gln48=)
NM_007272.3(CTRC):c.147C>T (p.Tyr49=)
NM_007272.3(CTRC):c.150C>G (p.Leu50=)
NM_007272.3(CTRC):c.150C>T (p.Leu50=)
NM_007272.3(CTRC):c.157G>A (p.Asp53Asn)
NM_007272.3(CTRC):c.162G>A (p.Thr54=)
NM_007272.3(CTRC):c.162G>C (p.Thr54=) rs756090858
NM_007272.3(CTRC):c.162G>T (p.Thr54=)
NM_007272.3(CTRC):c.168G>A (p.Arg56=)
NM_007272.3(CTRC):c.174G>T (p.Thr58=)
NM_007272.3(CTRC):c.177T>C (p.Cys59=)
NM_007272.3(CTRC):c.180C>A (p.Gly60=) rs497078
NM_007272.3(CTRC):c.192T>A (p.Ile64=)
NM_007272.3(CTRC):c.192T>C (p.Ile64=)
NM_007272.3(CTRC):c.198C>T (p.Ser66=)
NM_007272.3(CTRC):c.204C>T (p.Phe68=)
NM_007272.3(CTRC):c.213T>A (p.Thr71=)
NM_007272.3(CTRC):c.213T>C (p.Thr71=)
NM_007272.3(CTRC):c.21C>A (p.Leu7=)
NM_007272.3(CTRC):c.21C>T (p.Leu7=) rs1279354220
NM_007272.3(CTRC):c.230+17C>G
NM_007272.3(CTRC):c.231-11C>A
NM_007272.3(CTRC):c.231-17C>T
NM_007272.3(CTRC):c.231-4C>A
NM_007272.3(CTRC):c.249T>C (p.Arg83=) rs1570783555
NM_007272.3(CTRC):c.255C>A (p.Ala85=)
NM_007272.3(CTRC):c.255C>T (p.Ala85=)
NM_007272.3(CTRC):c.258G>A (p.Val86=)
NM_007272.3(CTRC):c.270C>T (p.Asn90=)
NM_007272.3(CTRC):c.273G>A (p.Leu91=)
NM_007272.3(CTRC):c.27G>C (p.Ala9=)
NM_007272.3(CTRC):c.288A>G (p.Glu96=)
NM_007272.3(CTRC):c.291A>G (p.Glu97=)
NM_007272.3(CTRC):c.298C>T (p.Leu100=)
NM_007272.3(CTRC):c.30C>G (p.Leu10=)
NM_007272.3(CTRC):c.318C>T (p.Thr106=)
NM_007272.3(CTRC):c.31T>C (p.Leu11=)
NM_007272.3(CTRC):c.322C>T (p.His108Tyr)
NM_007272.3(CTRC):c.331A>G (p.Lys111Glu)
NM_007272.3(CTRC):c.335G>A (p.Arg112Lys)
NM_007272.3(CTRC):c.33G>A (p.Leu11=)
NM_007272.3(CTRC):c.351G>A (p.Leu117=)
NM_007272.3(CTRC):c.356+17C>T
NM_007272.3(CTRC):c.357-3C>T
NM_007272.3(CTRC):c.360T>C (p.Asn120=)
NM_007272.3(CTRC):c.363T>C (p.Asp121=)
NM_007272.3(CTRC):c.366T>C (p.Ile122=)
NM_007272.3(CTRC):c.369C>G (p.Ala123=)
NM_007272.3(CTRC):c.387G>A (p.Glu129=)
NM_007272.3(CTRC):c.396G>A (p.Glu132=)
NM_007272.3(CTRC):c.397C>T (p.Leu133=)
NM_007272.3(CTRC):c.40+14T>C
NM_007272.3(CTRC):c.41-11T>C
NM_007272.3(CTRC):c.411C>A (p.Ile137=)
NM_007272.3(CTRC):c.411C>T (p.Ile137=)
NM_007272.3(CTRC):c.423C>T (p.Cys141=)
NM_007272.3(CTRC):c.426G>T (p.Leu142=)
NM_007272.3(CTRC):c.429A>T (p.Pro143=)
NM_007272.3(CTRC):c.442C>T (p.Leu148=)
NM_007272.3(CTRC):c.447C>T (p.Leu149=)
NM_007272.3(CTRC):c.450C>T (p.Pro150=)
NM_007272.3(CTRC):c.459C>T (p.Tyr153=)
NM_007272.3(CTRC):c.462C>A (p.Pro154=)
NM_007272.3(CTRC):c.465C>T (p.Cys155=)
NM_007272.3(CTRC):c.477C>T (p.Gly159=)
NM_007272.3(CTRC):c.483C>T (p.Gly161=)
NM_007272.3(CTRC):c.48C>T (p.Ser16=)
NM_007272.3(CTRC):c.494-19C>G
NM_007272.3(CTRC):c.498C>T (p.Asn166=)
NM_007272.3(CTRC):c.510T>C (p.Ala170=)
NM_007272.3(CTRC):c.516G>A (p.Lys172=)
NM_007272.3(CTRC):c.519G>A (p.Leu173=)
NM_007272.3(CTRC):c.525G>A (p.Gln175=)
NM_007272.3(CTRC):c.528C>T (p.Gly176=)
NM_007272.3(CTRC):c.531G>T (p.Leu177=)
NM_007272.3(CTRC):c.537C>G (p.Pro179=)
NM_007272.3(CTRC):c.537C>T (p.Pro179=)
NM_007272.3(CTRC):c.540G>C (p.Val180=)
NM_007272.3(CTRC):c.546T>C (p.Asp182=)
NM_007272.3(CTRC):c.54G>A (p.Gly18=)
NM_007272.3(CTRC):c.552C>G (p.Ala184=) rs888159659
NM_007272.3(CTRC):c.562A>C (p.Arg188=)
NM_007272.3(CTRC):c.582C>T (p.Phe194=)
NM_007272.3(CTRC):c.585G>A (p.Arg195=)
NM_007272.3(CTRC):c.594A>G (p.Lys198=)
NM_007272.3(CTRC):c.615C>T (p.Gly205=) rs756236720
NM_007272.3(CTRC):c.618T>C (p.Asp206=)
NM_007272.3(CTRC):c.621C>T (p.Gly207=)
NM_007272.3(CTRC):c.633C>T (p.Ala211=)
NM_007272.3(CTRC):c.636C>T (p.Cys212=)
NM_007272.3(CTRC):c.639+13G>A
NM_007272.3(CTRC):c.63C>T (p.Ser21=)
NM_007272.3(CTRC):c.640-11G>T
NM_007272.3(CTRC):c.640-40G>C rs191025876
NM_007272.3(CTRC):c.640-40G>T rs191025876
NM_007272.3(CTRC):c.640-41G>T rs186735838
NM_007272.3(CTRC):c.640-42G>C rs199897030
NM_007272.3(CTRC):c.640-6G>A
NM_007272.3(CTRC):c.642G>A (p.Gly214=) rs1265655451
NM_007272.3(CTRC):c.654C>T (p.Gly218=)
NM_007272.3(CTRC):c.660G>A (p.Leu220=)
NM_007272.3(CTRC):c.660G>C (p.Leu220=)
NM_007272.3(CTRC):c.666C>T (p.Cys222=)
NM_007272.3(CTRC):c.669G>A (p.Gln223=)
NM_007272.3(CTRC):c.66C>T (p.Phe22=)
NM_007272.3(CTRC):c.670T>C (p.Leu224=)
NM_007272.3(CTRC):c.672G>A (p.Leu224=) rs2103293066
NM_007272.3(CTRC):c.675G>A (p.Glu225=)
NM_007272.3(CTRC):c.681T>A (p.Gly227=) rs1389820334
NM_007272.3(CTRC):c.681T>C (p.Gly227=)
NM_007272.3(CTRC):c.69G>T (p.Pro23=)
NM_007272.3(CTRC):c.6G>A (p.Leu2=)
NM_007272.3(CTRC):c.702C>T (p.Ile234=)
NM_007272.3(CTRC):c.705C>T (p.Val235=)
NM_007272.3(CTRC):c.714C>G (p.Gly238=)
NM_007272.3(CTRC):c.717C>T (p.Ser239=)
NM_007272.3(CTRC):c.721C>A (p.Arg241=)
NM_007272.3(CTRC):c.722G>A (p.Arg241Gln)
NM_007272.3(CTRC):c.722G>T (p.Arg241Leu)
NM_007272.3(CTRC):c.72C>T (p.Pro24=)
NM_007272.3(CTRC):c.735C>T (p.Thr245=)
NM_007272.3(CTRC):c.737G>T (p.Arg246Leu) rs147925927
NM_007272.3(CTRC):c.738C>A (p.Arg246=)
NM_007272.3(CTRC):c.744G>A (p.Lys248=)
NM_007272.3(CTRC):c.747G>T (p.Pro249=) rs150078209
NM_007272.3(CTRC):c.750A>T (p.Val250=)
NM_007272.3(CTRC):c.753C>A (p.Val251=)
NM_007272.3(CTRC):c.753C>G (p.Val251=)
NM_007272.3(CTRC):c.756C>T (p.Tyr252=)
NM_007272.3(CTRC):c.762G>A (p.Arg254=)
NM_007272.3(CTRC):c.762G>C (p.Arg254=)
NM_007272.3(CTRC):c.765G>A (p.Val255=) rs1570786781
NM_007272.3(CTRC):c.76C>T (p.Leu26=)
NM_007272.3(CTRC):c.774C>T (p.Tyr258=)
NM_007272.3(CTRC):c.788A>G (p.Asn263Ser) rs769975164
NM_007272.3(CTRC):c.78A>G (p.Leu26=)
NM_007272.3(CTRC):c.792+10G>A rs1301778392
NM_007272.3(CTRC):c.792+13T>A
NM_007272.3(CTRC):c.792+19G>A
NM_007272.3(CTRC):c.801G>A (p.Gln267=)
NM_007272.3(CTRC):c.804G>C (p.Leu268=)

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