ClinVar Miner

List of variants in gene CCBE1 reported as likely benign

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Gene type:
ClinVar version:
Total variants: 160
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HGVS dbSNP gnomAD frequency
NM_133459.4(CCBE1):c.*2460T>C rs76216795 0.00485
NM_133459.4(CCBE1):c.195G>A (p.Glu65=) rs116673304 0.00475
NM_133459.4(CCBE1):c.*337T>G rs80296667 0.00389
NM_133459.4(CCBE1):c.*1434C>G rs144479124 0.00377
NM_133459.4(CCBE1):c.*2158C>T rs376015917 0.00376
NM_133459.4(CCBE1):c.*3182T>G rs8084216 0.00371
NM_133459.4(CCBE1):c.*4934G>T rs145940035 0.00353
NM_133459.4(CCBE1):c.*378G>A rs141921214 0.00289
NM_133459.4(CCBE1):c.*4498T>C rs146222689 0.00247
NM_133459.4(CCBE1):c.*2178C>T rs535062443 0.00239
NM_133459.4(CCBE1):c.*3080A>G rs147056520 0.00225
NM_133459.4(CCBE1):c.*2728A>G rs150355335 0.00163
NM_133459.4(CCBE1):c.1064A>C (p.Lys355Thr) rs139059968 0.00127
NM_133459.4(CCBE1):c.431C>T (p.Thr144Met) rs147974432 0.00096
NM_133459.4(CCBE1):c.*3931G>A rs187148297 0.00091
NM_133459.4(CCBE1):c.*3710A>G rs371219962 0.00061
NM_133459.4(CCBE1):c.101C>A (p.Thr34Asn) rs191999971 0.00058
NM_133459.4(CCBE1):c.519A>G (p.Thr173=) rs141327514 0.00055
NM_133459.4(CCBE1):c.354A>G (p.Arg118=) rs116239086 0.00053
NM_133459.4(CCBE1):c.776-19A>T rs374642289 0.00053
NM_133459.4(CCBE1):c.265+8A>C rs181010692 0.00052
NM_133459.4(CCBE1):c.557A>G (p.His186Arg) rs115071386 0.00036
NM_133459.4(CCBE1):c.212+16C>T rs371303348 0.00028
NM_133459.4(CCBE1):c.966G>A (p.Ala322=) rs144169027 0.00024
NM_133459.4(CCBE1):c.*20G>A rs372843233 0.00021
NM_133459.4(CCBE1):c.654+10G>A rs199573616 0.00020
NM_133459.4(CCBE1):c.810C>T (p.Pro270=) rs151243930 0.00020
NM_133459.4(CCBE1):c.477C>T (p.Cys159=) rs149268172 0.00016
NM_133459.4(CCBE1):c.843A>T (p.Pro281=) rs191592668 0.00013
NM_133459.4(CCBE1):c.*1942T>C rs138525348 0.00012
NM_133459.4(CCBE1):c.654+13G>C rs769543293 0.00012
NM_133459.4(CCBE1):c.273C>T (p.Asp91=) rs369006324 0.00011
NM_133459.4(CCBE1):c.171C>T (p.Tyr57=) rs375674582 0.00008
NM_133459.4(CCBE1):c.131+10G>A rs755608387 0.00007
NM_133459.4(CCBE1):c.*19C>T rs376780422 0.00006
NM_133459.4(CCBE1):c.132-20T>C rs368826749 0.00006
NM_133459.4(CCBE1):c.432G>T (p.Thr144=) rs766221977 0.00006
NM_133459.4(CCBE1):c.655-7C>T rs373230073 0.00006
NM_133459.4(CCBE1):c.1212C>T (p.Phe404=) rs763112456 0.00005
NM_133459.4(CCBE1):c.129C>T (p.Asp43=) rs772767605 0.00005
NM_133459.4(CCBE1):c.1005C>T (p.Phe335=) rs568146941 0.00004
NM_133459.4(CCBE1):c.204A>G (p.Thr68=) rs762304720 0.00004
NM_133459.4(CCBE1):c.1041T>C (p.Asn347=) rs748817654 0.00003
NM_133459.4(CCBE1):c.1071C>T (p.Phe357=) rs751850918 0.00003
NM_133459.4(CCBE1):c.401-17C>T rs1380525573 0.00003
NM_133459.4(CCBE1):c.84G>T (p.Ala28=) rs964303785 0.00003
NM_133459.4(CCBE1):c.951+17G>T rs756987434 0.00003
NM_133459.4(CCBE1):c.1047C>T (p.Ile349=) rs779502589 0.00002
NM_133459.4(CCBE1):c.189A>G (p.Ser63=) rs141422782 0.00002
NM_133459.4(CCBE1):c.33T>A (p.Ala11=) rs775045988 0.00002
NM_133459.4(CCBE1):c.342T>C (p.Tyr114=) rs114504060 0.00002
NM_133459.4(CCBE1):c.537A>G (p.Lys179=) rs376156676 0.00002
NM_133459.4(CCBE1):c.543C>T (p.Pro181=) rs1052383328 0.00002
NM_133459.4(CCBE1):c.776-11T>C rs772791173 0.00002
NM_133459.4(CCBE1):c.1017A>G (p.Leu339=) rs765502530 0.00001
NM_133459.4(CCBE1):c.108A>G (p.Arg36=) rs1254568069 0.00001
NM_133459.4(CCBE1):c.1163A>G (p.Asp388Gly) rs530079482 0.00001
NM_133459.4(CCBE1):c.12G>A (p.Pro4=) rs1358508660 0.00001
NM_133459.4(CCBE1):c.132-18C>T rs1454725561 0.00001
NM_133459.4(CCBE1):c.212+18G>A rs771823200 0.00001
NM_133459.4(CCBE1):c.282C>T (p.Ala94=) rs201917831 0.00001
NM_133459.4(CCBE1):c.401-16del rs755869578 0.00001
NM_133459.4(CCBE1):c.541C>T (p.Pro181Ser) rs116596858 0.00001
NM_133459.4(CCBE1):c.633C>T (p.Thr211=) rs764676830 0.00001
NM_133459.4(CCBE1):c.708C>T (p.Asp236=) rs766503507 0.00001
NM_133459.4(CCBE1):c.738A>G (p.Pro246=) rs201437351 0.00001
NM_133459.4(CCBE1):c.927G>T (p.Gly309=) rs751100378 0.00001
NM_133459.4(CCBE1):c.942T>C (p.Asp314=) rs200439896 0.00001
GRCh37/hg19 18q21.32(chr18:57169991-57303589)x1
NM_133459.4(CCBE1):c.*2403dup
NM_133459.4(CCBE1):c.*2951_*2952dup rs11424706
NM_133459.4(CCBE1):c.*3853C>T rs145393328
NM_133459.4(CCBE1):c.*4550AAT[1] rs553910582
NM_133459.4(CCBE1):c.*519dup rs35018840
NM_133459.4(CCBE1):c.105C>T (p.Tyr35=)
NM_133459.4(CCBE1):c.1086C>T (p.His362=) rs1910139279
NM_133459.4(CCBE1):c.1101G>A (p.Glu367=)
NM_133459.4(CCBE1):c.1164C>T (p.Asp388=)
NM_133459.4(CCBE1):c.1173A>G (p.Arg391=) rs1044109324
NM_133459.4(CCBE1):c.1200C>T (p.Ala400=)
NM_133459.4(CCBE1):c.123C>T (p.Asp41=) rs80008675
NM_133459.4(CCBE1):c.131+11_131+12insT
NM_133459.4(CCBE1):c.131+14G>A
NM_133459.4(CCBE1):c.131+18C>T
NM_133459.4(CCBE1):c.131+5G>A
NM_133459.4(CCBE1):c.132-14_132-13delinsCT rs2144762326
NM_133459.4(CCBE1):c.138C>A (p.Ile46=)
NM_133459.4(CCBE1):c.159G>A (p.Ala53=)
NM_133459.4(CCBE1):c.174G>C (p.Pro58=)
NM_133459.4(CCBE1):c.201C>G (p.Thr67=) rs1424630322
NM_133459.4(CCBE1):c.212+13G>A
NM_133459.4(CCBE1):c.212+19C>A
NM_133459.4(CCBE1):c.212+20G>A
NM_133459.4(CCBE1):c.213-11_213-8del
NM_133459.4(CCBE1):c.213-19A>G
NM_133459.4(CCBE1):c.213-5C>T
NM_133459.4(CCBE1):c.213-7C>G
NM_133459.4(CCBE1):c.234T>C (p.Tyr78=)
NM_133459.4(CCBE1):c.252A>G (p.Gln84=)
NM_133459.4(CCBE1):c.266-11T>C
NM_133459.4(CCBE1):c.267T>C (p.Asp89=) rs2143732737
NM_133459.4(CCBE1):c.270C>T (p.Tyr90=)
NM_133459.4(CCBE1):c.309G>A (p.Thr103=)
NM_133459.4(CCBE1):c.345G>A (p.Pro115=)
NM_133459.4(CCBE1):c.381G>A (p.Arg127=)
NM_133459.4(CCBE1):c.400+17C>T rs1258539221
NM_133459.4(CCBE1):c.401-11G>C rs2143722177
NM_133459.4(CCBE1):c.429G>A (p.Gly143=)
NM_133459.4(CCBE1):c.432G>A (p.Thr144=)
NM_133459.4(CCBE1):c.435G>A (p.Leu145=)
NM_133459.4(CCBE1):c.444C>T (p.His148=) rs2143721870
NM_133459.4(CCBE1):c.465C>T (p.Gly155=)
NM_133459.4(CCBE1):c.501G>A (p.Arg167=)
NM_133459.4(CCBE1):c.519A>C (p.Thr173=)
NM_133459.4(CCBE1):c.553+18A>G
NM_133459.4(CCBE1):c.553+8G>A
NM_133459.4(CCBE1):c.554-12C>T
NM_133459.4(CCBE1):c.567T>G (p.Ser189=)
NM_133459.4(CCBE1):c.585C>T (p.Ala195=)
NM_133459.4(CCBE1):c.612G>A (p.Glu204=)
NM_133459.4(CCBE1):c.618C>T (p.Tyr206=)
NM_133459.4(CCBE1):c.639G>A (p.Leu213=)
NM_133459.4(CCBE1):c.654+15G>A
NM_133459.4(CCBE1):c.654+20del rs760019600
NM_133459.4(CCBE1):c.654+4C>G rs770958531
NM_133459.4(CCBE1):c.654+5G>A rs150596993
NM_133459.4(CCBE1):c.654+9C>T
NM_133459.4(CCBE1):c.655-10C>A
NM_133459.4(CCBE1):c.655-4G>T
NM_133459.4(CCBE1):c.660T>C (p.Ala220=)
NM_133459.4(CCBE1):c.66G>A (p.Pro22=)
NM_133459.4(CCBE1):c.672C>T (p.Asn224=)
NM_133459.4(CCBE1):c.687G>A (p.Leu229=)
NM_133459.4(CCBE1):c.693G>A (p.Lys231=)
NM_133459.4(CCBE1):c.6G>A (p.Val2=)
NM_133459.4(CCBE1):c.700A>G (p.Thr234Ala)
NM_133459.4(CCBE1):c.717G>A (p.Leu239=)
NM_133459.4(CCBE1):c.727A>G (p.Thr243Ala)
NM_133459.4(CCBE1):c.775+16G>A
NM_133459.4(CCBE1):c.775+17G>A
NM_133459.4(CCBE1):c.775+19A>G
NM_133459.4(CCBE1):c.775+7G>T
NM_133459.4(CCBE1):c.776-8G>C
NM_133459.4(CCBE1):c.792G>A (p.Lys264=)
NM_133459.4(CCBE1):c.828T>A (p.Pro276=)
NM_133459.4(CCBE1):c.882G>A (p.Leu294=) rs2143618879
NM_133459.4(CCBE1):c.888C>T (p.His296=)
NM_133459.4(CCBE1):c.909C>A (p.Gly303=)
NM_133459.4(CCBE1):c.915+15A>G
NM_133459.4(CCBE1):c.916-19A>C
NM_133459.4(CCBE1):c.916-20C>T
NM_133459.4(CCBE1):c.916-20del
NM_133459.4(CCBE1):c.951+11T>C
NM_133459.4(CCBE1):c.951+7C>T
NM_133459.4(CCBE1):c.952-11T>C
NM_133459.4(CCBE1):c.987+12del rs1248911841
NM_133459.4(CCBE1):c.987+13_987+14del
NM_133459.4(CCBE1):c.987+17_987+18del
NM_133459.4(CCBE1):c.988-18T>C
NM_133459.4(CCBE1):c.988-19A>T rs1910149176

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