ClinVar Miner

List of variants in gene CTRC reported as uncertain significance for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 294
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HGVS dbSNP gnomAD frequency
NM_007272.3(CTRC):c.640-12G>A rs183053579 0.00194
NM_007272.3(CTRC):c.494-6C>T rs111790169 0.00096
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr) rs515726209 0.00067
NM_007272.3(CTRC):c.640-14C>T rs202049497 0.00060
NM_007272.3(CTRC):c.251T>C (p.Val84Ala) rs200369419 0.00028
NM_007272.3(CTRC):c.703G>A (p.Val235Ile) rs140993290 0.00024
NM_007272.3(CTRC):c.746C>T (p.Pro249Leu) rs142560329 0.00022
NM_007272.3(CTRC):c.674A>C (p.Glu225Ala) rs201486613 0.00020
NM_007272.3(CTRC):c.533A>G (p.Gln178Arg) rs200678111 0.00009
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.355C>T (p.Arg119Cys) rs768853400 0.00007
NM_007272.3(CTRC):c.484C>T (p.Arg162Cys) rs764908785 0.00007
NM_007272.3(CTRC):c.161C>T (p.Thr54Met) rs559326793 0.00006
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.52G>A (p.Gly18Arg) rs200576965 0.00005
NM_007272.3(CTRC):c.641G>A (p.Gly214Glu) rs1013133526 0.00005
NM_007272.3(CTRC):c.139C>T (p.Leu47Phe) rs769324644 0.00004
NM_007272.3(CTRC):c.286G>A (p.Glu96Lys) rs144286923 0.00004
NM_007272.3(CTRC):c.356G>A (p.Arg119His) rs748221308 0.00004
NM_007272.3(CTRC):c.493+3G>A rs772436044 0.00004
NM_007272.3(CTRC):c.767C>G (p.Ser256Cys) rs772573958 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.181G>A (p.Gly61Arg) rs769482036 0.00003
NM_007272.3(CTRC):c.205G>A (p.Val69Ile) rs760911831 0.00003
NM_007272.3(CTRC):c.356+1G>A rs151102347 0.00003
NM_007272.3(CTRC):c.485G>A (p.Arg162His) rs775404479 0.00003
NM_007272.3(CTRC):c.616G>A (p.Asp206Asn) rs780097120 0.00003
NM_007272.3(CTRC):c.649G>A (p.Gly217Ser) rs202058123 0.00003
NM_007272.3(CTRC):c.737G>A (p.Arg246His) rs147925927 0.00003
NM_007272.3(CTRC):c.109C>T (p.Arg37Trp) rs770675516 0.00002
NM_007272.3(CTRC):c.230+6C>T rs1331333297 0.00002
NM_007272.3(CTRC):c.247C>G (p.Arg83Gly) rs747679121 0.00002
NM_007272.3(CTRC):c.35C>T (p.Ala12Val) rs1318452999 0.00002
NM_007272.3(CTRC):c.599T>C (p.Met200Thr) rs1004695259 0.00002
NM_007272.3(CTRC):c.607G>A (p.Ala203Thr) rs750408563 0.00002
NM_007272.3(CTRC):c.82G>A (p.Ala28Thr) rs768414501 0.00002
NM_007272.3(CTRC):c.143A>G (p.Gln48Arg) rs536812916 0.00001
NM_007272.3(CTRC):c.154A>G (p.Asn52Asp) rs1199793577 0.00001
NM_007272.3(CTRC):c.202T>A (p.Phe68Ile) rs772513025 0.00001
NM_007272.3(CTRC):c.212C>T (p.Thr71Ile) rs560916216 0.00001
NM_007272.3(CTRC):c.22G>A (p.Ala8Thr) rs767349844 0.00001
NM_007272.3(CTRC):c.230+7G>A rs754126755 0.00001
NM_007272.3(CTRC):c.256G>A (p.Val86Met) rs367979183 0.00001
NM_007272.3(CTRC):c.25G>T (p.Ala9Ser) rs749888586 0.00001
NM_007272.3(CTRC):c.26C>T (p.Ala9Val) rs772818172 0.00001
NM_007272.3(CTRC):c.320T>C (p.Ile107Thr) rs1708151410 0.00001
NM_007272.3(CTRC):c.325G>A (p.Val109Ile) rs372127821 0.00001
NM_007272.3(CTRC):c.331A>C (p.Lys111Gln) rs1460120830 0.00001
NM_007272.3(CTRC):c.369C>T (p.Ala123=) rs749606141 0.00001
NM_007272.3(CTRC):c.40+4A>G rs1222161661 0.00001
NM_007272.3(CTRC):c.40+7G>A rs369827801 0.00001
NM_007272.3(CTRC):c.46A>G (p.Ser16Gly) rs765777463 0.00001
NM_007272.3(CTRC):c.473C>T (p.Thr158Ile) rs1238171999 0.00001
NM_007272.3(CTRC):c.494-1G>C rs766917452 0.00001
NM_007272.3(CTRC):c.538G>A (p.Val180Met) rs780050276 0.00001
NM_007272.3(CTRC):c.569A>G (p.Asp190Gly) rs765613993 0.00001
NM_007272.3(CTRC):c.572G>T (p.Trp191Leu) rs753236329 0.00001
NM_007272.3(CTRC):c.58C>T (p.Pro20Ser) rs757630885 0.00001
NM_007272.3(CTRC):c.595A>T (p.Thr199Ser) rs751977111 0.00001
NM_007272.3(CTRC):c.618T>A (p.Asp206Glu) rs749204330 0.00001
NM_007272.3(CTRC):c.631G>A (p.Ala211Thr) rs747965069 0.00001
NM_007272.3(CTRC):c.679G>A (p.Gly227Ser) rs567745213 0.00001
NM_007272.3(CTRC):c.68C>T (p.Pro23Leu) rs533967597 0.00001
NM_007272.3(CTRC):c.719G>A (p.Arg240Gln) rs760962602 0.00001
NM_007272.3(CTRC):c.71C>T (p.Pro24Leu) rs1241494944 0.00001
NM_007272.3(CTRC):c.721C>T (p.Arg241Trp) rs771229796 0.00001
NM_007272.3(CTRC):c.759C>T (p.Thr253=) rs1325006359 0.00001
NM_007272.3(CTRC):c.769G>A (p.Ala257Thr) rs200406696 0.00001
NM_007272.3(CTRC):c.86G>A (p.Arg29Gln) rs772024986 0.00001
GRCh38/hg38 1p36.21(chr1:15438455-15438514)
NC_000001.10:g.(?_15764902)_(15773084_?)dup
NC_000001.10:g.(?_15764951)_(15773094_?)dup
NC_000001.11:g.15445598_15445607del
NM_007272.3(CTRC):c.*28T>G rs1570787748
NM_007272.3(CTRC):c.-1C>T
NM_007272.3(CTRC):c.-2C>T
NM_007272.3(CTRC):c.-59C>T rs183658182
NM_007272.3(CTRC):c.106G>T (p.Ala36Ser)
NM_007272.3(CTRC):c.118A>C (p.Ser40Arg)
NM_007272.3(CTRC):c.11T>C (p.Ile4Thr)
NM_007272.3(CTRC):c.120C>A (p.Ser40Arg)
NM_007272.3(CTRC):c.129G>T (p.Trp43Cys)
NM_007272.3(CTRC):c.130del (p.Gln44fs) rs1344551908
NM_007272.3(CTRC):c.134T>A (p.Ile45Asn)
NM_007272.3(CTRC):c.137C>T (p.Ser46Phe)
NM_007272.3(CTRC):c.13A>C (p.Thr5Pro)
NM_007272.3(CTRC):c.13A>T (p.Thr5Ser)
NM_007272.3(CTRC):c.145T>C (p.Tyr49His) rs78247007
NM_007272.3(CTRC):c.151A>G (p.Lys51Glu)
NM_007272.3(CTRC):c.157G>C (p.Asp53His)
NM_007272.3(CTRC):c.173C>T (p.Thr58Met)
NM_007272.3(CTRC):c.178G>A (p.Gly60Ser)
NM_007272.3(CTRC):c.194C>T (p.Ala65Val) rs2103289502
NM_007272.3(CTRC):c.197G>A (p.Ser66Asn)
NM_007272.3(CTRC):c.1A>G (p.Met1Val)
NM_007272.3(CTRC):c.205G>T (p.Val69Phe)
NM_007272.3(CTRC):c.215C>T (p.Ala72Val)
NM_007272.3(CTRC):c.217G>T (p.Ala73Ser) rs515726209
NM_007272.3(CTRC):c.220C>T (p.His74Tyr) rs1557508393
NM_007272.3(CTRC):c.221A>G (p.His74Arg)
NM_007272.3(CTRC):c.224G>A (p.Cys75Tyr)
NM_007272.3(CTRC):c.226A>C (p.Ile76Leu)
NM_007272.3(CTRC):c.226A>G (p.Ile76Val)
NM_007272.3(CTRC):c.231-2A>G rs1570783505
NM_007272.3(CTRC):c.238C>T (p.Arg80Trp) rs779643710
NM_007272.3(CTRC):c.239G>A (p.Arg80Gln)
NM_007272.3(CTRC):c.23C>G (p.Ala8Gly)
NM_007272.3(CTRC):c.247C>T (p.Arg83Cys) rs747679121
NM_007272.3(CTRC):c.248G>A (p.Arg83His) rs781768384
NM_007272.3(CTRC):c.248G>T (p.Arg83Leu) rs781768384
NM_007272.3(CTRC):c.253G>C (p.Ala85Pro)
NM_007272.3(CTRC):c.260G>A (p.Gly87Glu)
NM_007272.3(CTRC):c.262A>G (p.Lys88Glu)
NM_007272.3(CTRC):c.268A>T (p.Asn90Tyr)
NM_007272.3(CTRC):c.26C>A (p.Ala9Glu)
NM_007272.3(CTRC):c.271C>A (p.Leu91Met) rs1407562830
NM_007272.3(CTRC):c.272T>C (p.Leu91Pro)
NM_007272.3(CTRC):c.272_273dup (p.Glu92fs)
NM_007272.3(CTRC):c.274G>A (p.Glu92Lys)
NM_007272.3(CTRC):c.276G>C (p.Glu92Asp)
NM_007272.3(CTRC):c.277G>A (p.Val93Met)
NM_007272.3(CTRC):c.277G>C (p.Val93Leu)
NM_007272.3(CTRC):c.281A>C (p.Glu94Ala)
NM_007272.3(CTRC):c.289G>C (p.Glu97Gln)
NM_007272.3(CTRC):c.293G>T (p.Gly98Val)
NM_007272.3(CTRC):c.295T>A (p.Ser99Thr)
NM_007272.3(CTRC):c.299T>C (p.Leu100Pro)
NM_007272.3(CTRC):c.29T>C (p.Leu10Pro)
NM_007272.3(CTRC):c.302T>C (p.Phe101Ser)
NM_007272.3(CTRC):c.304G>T (p.Val102Leu)
NM_007272.3(CTRC):c.307G>A (p.Gly103Ser)
NM_007272.3(CTRC):c.308G>T (p.Gly103Val)
NM_007272.3(CTRC):c.308del (p.Gly103fs) rs773119534
NM_007272.3(CTRC):c.316A>G (p.Thr106Ala)
NM_007272.3(CTRC):c.317C>T (p.Thr106Ile)
NM_007272.3(CTRC):c.324C>A (p.His108Gln)
NM_007272.3(CTRC):c.328del (p.His110fs)
NM_007272.3(CTRC):c.329A>G (p.His110Arg)
NM_007272.3(CTRC):c.330C>G (p.His110Gln)
NM_007272.3(CTRC):c.336A>T (p.Arg112Ser)
NM_007272.3(CTRC):c.33G>C (p.Leu11Phe)
NM_007272.3(CTRC):c.341A>G (p.Asn114Ser)
NM_007272.3(CTRC):c.342T>A (p.Asn114Lys)
NM_007272.3(CTRC):c.343G>A (p.Ala115Thr)
NM_007272.3(CTRC):c.344C>T (p.Ala115Val)
NM_007272.3(CTRC):c.347T>C (p.Leu116Pro)
NM_007272.3(CTRC):c.353T>G (p.Leu118Trp)
NM_007272.3(CTRC):c.355C>G (p.Arg119Gly)
NM_007272.3(CTRC):c.362A>G (p.Asp121Gly)
NM_007272.3(CTRC):c.365T>C (p.Ile122Thr)
NM_007272.3(CTRC):c.368C>T (p.Ala123Val)
NM_007272.3(CTRC):c.370C>T (p.Leu124Phe)
NM_007272.3(CTRC):c.371T>A (p.Leu124His)
NM_007272.3(CTRC):c.371T>G (p.Leu124Arg)
NM_007272.3(CTRC):c.372C>T (p.Leu124=)
NM_007272.3(CTRC):c.379C>T (p.Leu127Phe)
NM_007272.3(CTRC):c.382G>A (p.Ala128Thr)
NM_007272.3(CTRC):c.40+6C>T
NM_007272.3(CTRC):c.403G>A (p.Asp135Asn)
NM_007272.3(CTRC):c.405C>G (p.Asp135Glu)
NM_007272.3(CTRC):c.406A>G (p.Thr136Ala)
NM_007272.3(CTRC):c.407C>T (p.Thr136Ile) rs1302946061
NM_007272.3(CTRC):c.409A>C (p.Ile137Leu) rs2103291436
NM_007272.3(CTRC):c.434A>G (p.Lys145Arg)
NM_007272.3(CTRC):c.436G>A (p.Asp146Asn)
NM_007272.3(CTRC):c.437A>T (p.Asp146Val)
NM_007272.3(CTRC):c.437del (p.Asp146fs)
NM_007272.3(CTRC):c.440C>G (p.Ser147Cys)
NM_007272.3(CTRC):c.443T>A (p.Leu148Gln)
NM_007272.3(CTRC):c.445C>T (p.Leu149Phe)
NM_007272.3(CTRC):c.449C>T (p.Pro150Leu)
NM_007272.3(CTRC):c.452A>G (p.Lys151Arg)
NM_007272.3(CTRC):c.453G>T (p.Lys151Asn)
NM_007272.3(CTRC):c.455A>C (p.Asp152Ala)
NM_007272.3(CTRC):c.460C>G (p.Pro154Ala)
NM_007272.3(CTRC):c.466T>C (p.Tyr156His)
NM_007272.3(CTRC):c.475G>A (p.Gly159Ser)
NM_007272.3(CTRC):c.47G>T (p.Ser16Ile)
NM_007272.3(CTRC):c.480G>A (p.Trp160Ter)
NM_007272.3(CTRC):c.48C>G (p.Ser16Arg)
NM_007272.3(CTRC):c.490T>C (p.Trp164Arg)
NM_007272.3(CTRC):c.490_491del (p.Trp164fs) rs2103291536
NM_007272.3(CTRC):c.491G>C (p.Trp164Ser)
NM_007272.3(CTRC):c.492G>T (p.Trp164Cys)
NM_007272.3(CTRC):c.493+2T>C
NM_007272.3(CTRC):c.493+3_493+6del
NM_007272.3(CTRC):c.494-1G>A
NM_007272.3(CTRC):c.494-2A>G rs1708187577
NM_007272.3(CTRC):c.496A>C (p.Asn166His)
NM_007272.3(CTRC):c.497A>G (p.Asn166Ser)
NM_007272.3(CTRC):c.499G>A (p.Gly167Ser) rs141205711
NM_007272.3(CTRC):c.499G>C (p.Gly167Arg) rs141205711
NM_007272.3(CTRC):c.502C>G (p.Pro168Ala)
NM_007272.3(CTRC):c.506T>C (p.Ile169Thr)
NM_007272.3(CTRC):c.521A>G (p.Gln174Arg)
NM_007272.3(CTRC):c.522G>C (p.Gln174His) rs2103292282
NM_007272.3(CTRC):c.527G>A (p.Gly176Asp)
NM_007272.3(CTRC):c.532C>G (p.Gln178Glu)
NM_007272.3(CTRC):c.539T>C (p.Val180Ala)
NM_007272.3(CTRC):c.551C>G (p.Ala184Gly)
NM_007272.3(CTRC):c.551C>T (p.Ala184Val)
NM_007272.3(CTRC):c.554C>T (p.Thr185Met)
NM_007272.3(CTRC):c.55G>A (p.Val19Met)
NM_007272.3(CTRC):c.55G>T (p.Val19Leu)
NM_007272.3(CTRC):c.560C>G (p.Ser187Cys) rs1355039968
NM_007272.3(CTRC):c.566T>C (p.Ile189Thr)
NM_007272.3(CTRC):c.56T>C (p.Val19Ala)
NM_007272.3(CTRC):c.574T>A (p.Trp192Arg)
NM_007272.3(CTRC):c.577G>T (p.Gly193Cys)
NM_007272.3(CTRC):c.578G>A (p.Gly193Asp)
NM_007272.3(CTRC):c.583A>G (p.Arg195Gly) rs1708189840
NM_007272.3(CTRC):c.584G>C (p.Arg195Thr)
NM_007272.3(CTRC):c.595A>C (p.Thr199Pro)
NM_007272.3(CTRC):c.595A>G (p.Thr199Ala)
NM_007272.3(CTRC):c.598A>G (p.Met200Val)
NM_007272.3(CTRC):c.5T>G (p.Leu2Trp)
NM_007272.3(CTRC):c.600G>C (p.Met200Ile)
NM_007272.3(CTRC):c.602T>A (p.Val201Glu)
NM_007272.3(CTRC):c.602T>C (p.Val201Ala)
NM_007272.3(CTRC):c.614G>A (p.Gly205Asp)
NM_007272.3(CTRC):c.615C>T (p.Gly205=) rs756236720
NM_007272.3(CTRC):c.622G>A (p.Val208Ile)
NM_007272.3(CTRC):c.625A>G (p.Ile209Val)
NM_007272.3(CTRC):c.625A>T (p.Ile209Phe)
NM_007272.3(CTRC):c.628T>C (p.Ser210Pro) rs1570785775
NM_007272.3(CTRC):c.635G>A (p.Cys212Tyr)
NM_007272.3(CTRC):c.638A>G (p.Asn213Ser) rs886045375
NM_007272.3(CTRC):c.639+2T>A
NM_007272.3(CTRC):c.642G>A (p.Gly214=) rs1265655451
NM_007272.3(CTRC):c.643G>A (p.Asp215Asn) rs1708203951
NM_007272.3(CTRC):c.645C>A (p.Asp215Glu)
NM_007272.3(CTRC):c.647C>T (p.Ser216Phe)
NM_007272.3(CTRC):c.649G>C (p.Gly217Arg) rs202058123
NM_007272.3(CTRC):c.64T>C (p.Phe22Leu)
NM_007272.3(CTRC):c.653G>A (p.Gly218Asp)
NM_007272.3(CTRC):c.656C>T (p.Pro219Leu)
NM_007272.3(CTRC):c.664T>C (p.Cys222Arg) rs1570786538
NM_007272.3(CTRC):c.667C>G (p.Gln223Glu)
NM_007272.3(CTRC):c.668A>G (p.Gln223Arg)
NM_007272.3(CTRC):c.669G>C (p.Gln223His) rs752651686
NM_007272.3(CTRC):c.672G>T (p.Leu224Phe)
NM_007272.3(CTRC):c.683C>A (p.Ser228Tyr)
NM_007272.3(CTRC):c.688G>A (p.Glu230Lys)
NM_007272.3(CTRC):c.698G>A (p.Gly233Asp)
NM_007272.3(CTRC):c.700A>G (p.Ile234Val)
NM_007272.3(CTRC):c.707G>C (p.Ser236Thr)
NM_007272.3(CTRC):c.716C>T (p.Ser239Phe) rs1708205861
NM_007272.3(CTRC):c.718C>T (p.Arg240Trp)
NM_007272.3(CTRC):c.721C>G (p.Arg241Gly)
NM_007272.3(CTRC):c.722G>A (p.Arg241Gln)
NM_007272.3(CTRC):c.725G>A (p.Gly242Asp)
NM_007272.3(CTRC):c.736C>G (p.Arg246Gly)
NM_007272.3(CTRC):c.737G>T (p.Arg246Leu) rs147925927
NM_007272.3(CTRC):c.73A>G (p.Asn25Asp)
NM_007272.3(CTRC):c.742A>G (p.Lys248Glu)
NM_007272.3(CTRC):c.745C>T (p.Pro249Ser)
NM_007272.3(CTRC):c.753_754insAACACCCGCAAGAAGCCGGTACTC (p.Val251_Tyr252insAsnThrArgLysLysProValLeu)
NM_007272.3(CTRC):c.757A>G (p.Thr253Ala)
NM_007272.3(CTRC):c.758C>A (p.Thr253Asn)
NM_007272.3(CTRC):c.758C>T (p.Thr253Ile) rs780783336
NM_007272.3(CTRC):c.761G>A (p.Arg254Gln) rs755811899
NM_007272.3(CTRC):c.761G>C (p.Arg254Pro) rs755811899
NM_007272.3(CTRC):c.763G>A (p.Val255Met)
NM_007272.3(CTRC):c.763G>C (p.Val255Leu)
NM_007272.3(CTRC):c.764T>G (p.Val255Gly)
NM_007272.3(CTRC):c.776T>C (p.Ile259Thr)
NM_007272.3(CTRC):c.778G>T (p.Asp260Tyr) rs540753875
NM_007272.3(CTRC):c.779A>G (p.Asp260Gly)
NM_007272.3(CTRC):c.77T>C (p.Leu26Pro)
NM_007272.3(CTRC):c.781T>C (p.Trp261Arg)
NM_007272.3(CTRC):c.783G>A (p.Trp261Ter)
NM_007272.3(CTRC):c.783G>T (p.Trp261Cys)
NM_007272.3(CTRC):c.788A>C (p.Asn263Thr)
NM_007272.3(CTRC):c.788A>G (p.Asn263Ser) rs769975164
NM_007272.3(CTRC):c.790G>A (p.Glu264Lys)
NM_007272.3(CTRC):c.790G>C (p.Glu264Gln)
NM_007272.3(CTRC):c.791A>G (p.Glu264Gly)
NM_007272.3(CTRC):c.793-18T>A rs1708224385
NM_007272.3(CTRC):c.797T>G (p.Met266Arg) rs1708224626
NM_007272.3(CTRC):c.798G>C (p.Met266Ile)
NM_007272.3(CTRC):c.7G>T (p.Gly3Cys)
NM_007272.3(CTRC):c.800A>G (p.Gln267Arg)
NM_007272.3(CTRC):c.803T>A (p.Leu268Gln) rs886045376
NM_007272.3(CTRC):c.805T>C (p.Ter269Arg) rs1570787652
NM_007272.3(CTRC):c.82G>T (p.Ala28Ser)
NM_007272.3(CTRC):c.83C>T (p.Ala28Val)
NM_007272.3(CTRC):c.86G>C (p.Arg29Pro)
NM_007272.3(CTRC):c.86G>T (p.Arg29Leu) rs772024986
NM_007272.3(CTRC):c.89T>C (p.Val30Ala)
NM_007272.3(CTRC):c.8G>A (p.Gly3Asp)
NM_007272.3(CTRC):c.95G>A (p.Gly32Glu)

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