ClinVar Miner

List of variants in gene FBXO7 reported as likely benign for basal ganglia disorder

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 196
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HGVS dbSNP gnomAD frequency
NM_012179.4(FBXO7):c.540A>G (p.Pro180=) rs41311141 0.03327
NM_012179.4(FBXO7):c.1125A>G (p.Leu375=) rs147911892 0.00660
NM_012179.4(FBXO7):c.122+9G>A rs192327462 0.00407
NM_012179.4(FBXO7):c.693C>T (p.Ser231=) rs61752254 0.00283
NM_012179.4(FBXO7):c.601G>A (p.Val201Met) rs61730783 0.00163
NM_012179.4(FBXO7):c.110C>G (p.Thr37Ser) rs773027248 0.00034
NM_012179.4(FBXO7):c.277T>G (p.Ser93Ala) rs143041875 0.00032
NM_012179.4(FBXO7):c.303T>C (p.Asn101=) rs373293691 0.00027
NM_012179.4(FBXO7):c.155A>G (p.Tyr52Cys) rs550610502 0.00016
NM_012179.4(FBXO7):c.291A>C (p.Ser97=) rs369892815 0.00012
NM_012179.4(FBXO7):c.1182+18T>G rs201875880 0.00011
NM_012179.4(FBXO7):c.1495G>A (p.Gly499Ser) rs369612645 0.00011
NM_012179.4(FBXO7):c.213G>A (p.Gly71=) rs149180516 0.00011
NM_012179.4(FBXO7):c.319G>A (p.Ala107Thr) rs138222812 0.00009
NM_012179.4(FBXO7):c.1441C>T (p.Arg481Cys) rs148272407 0.00008
NM_012179.4(FBXO7):c.123-10T>G rs200664364 0.00006
NM_012179.4(FBXO7):c.1506T>C (p.Asn502=) rs765344006 0.00006
NM_012179.4(FBXO7):c.1221G>A (p.Pro407=) rs201127594 0.00005
NM_012179.4(FBXO7):c.1535G>A (p.Gly512Asp) rs142471722 0.00004
NM_012179.4(FBXO7):c.465G>A (p.Ala155=) rs765523844 0.00003
NM_012179.4(FBXO7):c.1530C>T (p.Ser510=) rs1057521329 0.00002
NM_012179.4(FBXO7):c.646-10C>T rs367584088 0.00002
NM_012179.4(FBXO7):c.999C>T (p.Val333=) rs1191841298 0.00002
NM_012179.4(FBXO7):c.1009T>C (p.Leu337=) rs754811367 0.00001
NM_012179.4(FBXO7):c.1089T>C (p.Phe363=) rs1250777790 0.00001
NM_012179.4(FBXO7):c.1145-8C>T rs751528878 0.00001
NM_012179.4(FBXO7):c.1183-15T>G rs534389109 0.00001
NM_012179.4(FBXO7):c.1183-4del rs1399849415 0.00001
NM_012179.4(FBXO7):c.1497C>T (p.Gly499=) rs373124830 0.00001
NM_012179.4(FBXO7):c.1527C>A (p.Pro509=) rs758609287 0.00001
NM_012179.4(FBXO7):c.418-7T>C rs1191875613 0.00001
NM_012179.4(FBXO7):c.447G>A (p.Glu149=) rs1012166328 0.00001
NM_012179.4(FBXO7):c.522G>A (p.Ser174=) rs772581980 0.00001
NM_012179.4(FBXO7):c.646-9G>A rs1205866315 0.00001
NM_012179.4(FBXO7):c.100C>T (p.Leu34=)
NM_012179.4(FBXO7):c.1026G>C (p.Arg342=)
NM_012179.4(FBXO7):c.1041G>A (p.Leu347=)
NM_012179.4(FBXO7):c.1053C>T (p.Ser351=)
NM_012179.4(FBXO7):c.1062T>G (p.Ser354=)
NM_012179.4(FBXO7):c.1071G>A (p.Ala357=)
NM_012179.4(FBXO7):c.1082A>G (p.Asp361Gly)
NM_012179.4(FBXO7):c.1086C>T (p.Leu362=) rs1348830671
NM_012179.4(FBXO7):c.1144+10G>A
NM_012179.4(FBXO7):c.1144+10G>T
NM_012179.4(FBXO7):c.1144+19T>C
NM_012179.4(FBXO7):c.1145-14C>A
NM_012179.4(FBXO7):c.1145-20T>G
NM_012179.4(FBXO7):c.1145-8del
NM_012179.4(FBXO7):c.1145-9C>A
NM_012179.4(FBXO7):c.1155C>G (p.Val385=)
NM_012179.4(FBXO7):c.117G>T (p.Gly39=)
NM_012179.4(FBXO7):c.1182+12T>A
NM_012179.4(FBXO7):c.1182+7A>G
NM_012179.4(FBXO7):c.1183-10T>A
NM_012179.4(FBXO7):c.1183-11T>G
NM_012179.4(FBXO7):c.1183-19_1183-16del
NM_012179.4(FBXO7):c.1183-20T>C
NM_012179.4(FBXO7):c.1183-7T>C
NM_012179.4(FBXO7):c.1183-9T>C
NM_012179.4(FBXO7):c.120C>T (p.Tyr40=)
NM_012179.4(FBXO7):c.1215A>G (p.Glu405=)
NM_012179.4(FBXO7):c.1218C>T (p.Ser406=)
NM_012179.4(FBXO7):c.122+10G>T
NM_012179.4(FBXO7):c.122+13C>T
NM_012179.4(FBXO7):c.122+14G>C
NM_012179.4(FBXO7):c.122+16G>A
NM_012179.4(FBXO7):c.122+17G>A
NM_012179.4(FBXO7):c.122+7dup
NM_012179.4(FBXO7):c.1221G>T (p.Pro407=)
NM_012179.4(FBXO7):c.123-12C>T
NM_012179.4(FBXO7):c.123-20T>C
NM_012179.4(FBXO7):c.123-20T>G
NM_012179.4(FBXO7):c.1236G>A (p.Val412=)
NM_012179.4(FBXO7):c.1236G>T (p.Val412=)
NM_012179.4(FBXO7):c.1248A>G (p.Pro416=)
NM_012179.4(FBXO7):c.1251G>A (p.Ser417=)
NM_012179.4(FBXO7):c.1269A>G (p.Pro423=)
NM_012179.4(FBXO7):c.1278C>T (p.Pro426=)
NM_012179.4(FBXO7):c.1299A>G (p.Pro433=)
NM_012179.4(FBXO7):c.1302T>C (p.Phe434=)
NM_012179.4(FBXO7):c.1308C>T (p.Ser436=)
NM_012179.4(FBXO7):c.1314C>T (p.Arg438=)
NM_012179.4(FBXO7):c.135A>G (p.Arg45=)
NM_012179.4(FBXO7):c.1362T>C (p.Leu454=)
NM_012179.4(FBXO7):c.1365C>G (p.Pro455=)
NM_012179.4(FBXO7):c.1368T>C (p.Tyr456=)
NM_012179.4(FBXO7):c.1371T>G (p.Val457=)
NM_012179.4(FBXO7):c.1380A>G (p.Pro460=)
NM_012179.4(FBXO7):c.1392C>T (p.Leu464=)
NM_012179.4(FBXO7):c.1413G>A (p.Thr471=)
NM_012179.4(FBXO7):c.1416C>T (p.Pro472=)
NM_012179.4(FBXO7):c.1419C>T (p.Ser473=)
NM_012179.4(FBXO7):c.1467A>G (p.Pro489=)
NM_012179.4(FBXO7):c.1470A>G (p.Gly490=)
NM_012179.4(FBXO7):c.1476C>T (p.Asn492=)
NM_012179.4(FBXO7):c.1491G>A (p.Gly497=)
NM_012179.4(FBXO7):c.1494A>G (p.Arg498=)
NM_012179.4(FBXO7):c.1497C>A (p.Gly499=)
NM_012179.4(FBXO7):c.156C>T (p.Tyr52=)
NM_012179.4(FBXO7):c.174A>C (p.Gly58=)
NM_012179.4(FBXO7):c.249A>G (p.Pro83=)
NM_012179.4(FBXO7):c.252G>A (p.Ala84=)
NM_012179.4(FBXO7):c.306G>A (p.Glu102=) rs905363046
NM_012179.4(FBXO7):c.30G>A (p.Arg10=)
NM_012179.4(FBXO7):c.330C>T (p.Ser110=)
NM_012179.4(FBXO7):c.33C>G (p.Thr11=)
NM_012179.4(FBXO7):c.33C>T (p.Thr11=)
NM_012179.4(FBXO7):c.345G>C (p.Met115Ile)
NM_012179.4(FBXO7):c.354A>G (p.Glu118=)
NM_012179.4(FBXO7):c.378A>G (p.Gly126=)
NM_012179.4(FBXO7):c.384A>G (p.Ala128=)
NM_012179.4(FBXO7):c.393T>C (p.Ser131=)
NM_012179.4(FBXO7):c.408C>T (p.Asp136=)
NM_012179.4(FBXO7):c.40C>T (p.Leu14=)
NM_012179.4(FBXO7):c.411C>T (p.Asp137=)
NM_012179.4(FBXO7):c.417+18A>G
NM_012179.4(FBXO7):c.417+20A>G
NM_012179.4(FBXO7):c.417+7A>G
NM_012179.4(FBXO7):c.418-11T>C
NM_012179.4(FBXO7):c.418-16T>C
NM_012179.4(FBXO7):c.426T>C (p.Pro142=)
NM_012179.4(FBXO7):c.432A>G (p.Gln144=)
NM_012179.4(FBXO7):c.444T>C (p.Ala148=)
NM_012179.4(FBXO7):c.45G>A (p.Glu15=)
NM_012179.4(FBXO7):c.462T>C (p.Asn154=)
NM_012179.4(FBXO7):c.465G>T (p.Ala155=)
NM_012179.4(FBXO7):c.468T>C (p.His156=)
NM_012179.4(FBXO7):c.48G>A (p.Val16=)
NM_012179.4(FBXO7):c.4A>C (p.Arg2=)
NM_012179.4(FBXO7):c.531G>A (p.Gly177=)
NM_012179.4(FBXO7):c.537G>A (p.Val179=)
NM_012179.4(FBXO7):c.546A>G (p.Ser182=)
NM_012179.4(FBXO7):c.555C>T (p.Thr185=)
NM_012179.4(FBXO7):c.564A>G (p.Gln188=)
NM_012179.4(FBXO7):c.573C>T (p.Asp191=)
NM_012179.4(FBXO7):c.579T>C (p.Ser193=)
NM_012179.4(FBXO7):c.595T>C (p.Leu199=)
NM_012179.4(FBXO7):c.603G>A (p.Val201=)
NM_012179.4(FBXO7):c.622T>C (p.Leu208=)
NM_012179.4(FBXO7):c.630A>G (p.Ser210=)
NM_012179.4(FBXO7):c.645+12A>G
NM_012179.4(FBXO7):c.645+13A>G
NM_012179.4(FBXO7):c.645+19A>T
NM_012179.4(FBXO7):c.645+22_645+23del
NM_012179.4(FBXO7):c.646-15C>T
NM_012179.4(FBXO7):c.646-20C>G
NM_012179.4(FBXO7):c.651C>T (p.Thr217=)
NM_012179.4(FBXO7):c.666G>C (p.Leu222=)
NM_012179.4(FBXO7):c.675G>A (p.Pro225=)
NM_012179.4(FBXO7):c.729C>T (p.Cys243=)
NM_012179.4(FBXO7):c.72G>A (p.Gly24=)
NM_012179.4(FBXO7):c.741C>T (p.Ser247=)
NM_012179.4(FBXO7):c.744T>C (p.Ala248=)
NM_012179.4(FBXO7):c.787+11A>G
NM_012179.4(FBXO7):c.787+13C>T
NM_012179.4(FBXO7):c.787+14A>G
NM_012179.4(FBXO7):c.787+17G>A
NM_012179.4(FBXO7):c.788-11T>C
NM_012179.4(FBXO7):c.788-12_788-9del
NM_012179.4(FBXO7):c.788-15T>A
NM_012179.4(FBXO7):c.788-15_788-13del
NM_012179.4(FBXO7):c.788-16_788-13del
NM_012179.4(FBXO7):c.788-17_788-13del
NM_012179.4(FBXO7):c.788-8A>G
NM_012179.4(FBXO7):c.788-9dup
NM_012179.4(FBXO7):c.792A>G (p.Thr264=)
NM_012179.4(FBXO7):c.795A>G (p.Leu265=)
NM_012179.4(FBXO7):c.801C>A (p.Ile267=)
NM_012179.4(FBXO7):c.846A>G (p.Glu282=)
NM_012179.4(FBXO7):c.84G>A (p.Ser28=)
NM_012179.4(FBXO7):c.871+15_871+17del rs2145996802
NM_012179.4(FBXO7):c.872-15T>C
NM_012179.4(FBXO7):c.872-19A>G
NM_012179.4(FBXO7):c.872-4C>A
NM_012179.4(FBXO7):c.872-7A>T
NM_012179.4(FBXO7):c.873G>A (p.Gly291=)
NM_012179.4(FBXO7):c.879T>C (p.Asn293=)
NM_012179.4(FBXO7):c.894C>T (p.Tyr298=)
NM_012179.4(FBXO7):c.909A>G (p.Lys303=)
NM_012179.4(FBXO7):c.90G>A (p.Leu30=)
NM_012179.4(FBXO7):c.912C>T (p.Leu304=)
NM_012179.4(FBXO7):c.921C>T (p.Leu307=)
NM_012179.4(FBXO7):c.930C>T (p.Asp310=)
NM_012179.4(FBXO7):c.967+14T>C
NM_012179.4(FBXO7):c.967+17T>C
NM_012179.4(FBXO7):c.967+18G>C
NM_012179.4(FBXO7):c.967+9T>C
NM_012179.4(FBXO7):c.968-16_968-14del
NM_012179.4(FBXO7):c.968-17T>C
NM_012179.4(FBXO7):c.968-18C>G
NM_012179.4(FBXO7):c.968-9T>G
NM_012179.4(FBXO7):c.969A>G (p.Ala323=)
NM_012179.4(FBXO7):c.970C>T (p.Leu324=)
NM_012179.4(FBXO7):c.978A>G (p.Leu326=)
NM_012179.4(FBXO7):c.987A>G (p.Val329=)
NM_012179.4(FBXO7):c.993G>T (p.Gly331=) rs766700888

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