ClinVar Miner

List of variants in gene FBXO7 reported as uncertain significance for basal ganglia disorder

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
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.*82G>A rs147661976 0.00276
NM_012179.4(FBXO7):c.1144+9C>T rs199954341 0.00106
NM_012179.4(FBXO7):c.1453G>A (p.Val485Ile) rs141286570 0.00054
NM_012179.4(FBXO7):c.277T>G (p.Ser93Ala) rs143041875 0.00032
NM_012179.4(FBXO7):c.1505A>G (p.Asn502Ser) rs144538200 0.00024
NM_012179.4(FBXO7):c.1552C>T (p.Arg518Trp) rs374363283 0.00017
NM_012179.4(FBXO7):c.274G>C (p.Asp92His) rs139135860 0.00016
NM_012179.4(FBXO7):c.1070C>T (p.Ala357Val) rs141068487 0.00014
NM_012179.4(FBXO7):c.*170C>G rs186797068 0.00011
NM_012179.4(FBXO7):c.1100A>G (p.Asn367Ser) rs764006085 0.00011
NM_012179.4(FBXO7):c.803A>G (p.Asn268Ser) rs188111542 0.00010
NM_012179.4(FBXO7):c.-168A>G rs886057417 0.00009
NM_012179.4(FBXO7):c.-97C>T rs531209490 0.00008
NM_012179.4(FBXO7):c.917G>A (p.Arg306His) rs771599282 0.00008
NM_012179.4(FBXO7):c.1506T>C (p.Asn502=) rs765344006 0.00006
NM_012179.4(FBXO7):c.169A>G (p.Thr57Ala) rs760306475 0.00006
NM_012179.4(FBXO7):c.839T>C (p.Leu280Pro) rs776439796 0.00006
NM_012179.4(FBXO7):c.1385G>T (p.Ser462Ile) rs149552421 0.00004
NM_012179.4(FBXO7):c.1535G>A (p.Gly512Asp) rs142471722 0.00004
NM_012179.4(FBXO7):c.*47A>T rs367714958 0.00003
NM_012179.4(FBXO7):c.-93G>A rs886057419 0.00003
NM_012179.4(FBXO7):c.1312C>T (p.Arg438Cys) rs757568839 0.00003
NM_012179.4(FBXO7):c.1490G>C (p.Gly497Ala) rs769453042 0.00003
NM_012179.4(FBXO7):c.1054G>A (p.Val352Ile) rs762037477 0.00002
NM_012179.4(FBXO7):c.1264A>T (p.Ile422Phe) rs1555884880 0.00002
NM_012179.4(FBXO7):c.364G>A (p.Asp122Asn) rs772662803 0.00002
NM_012179.4(FBXO7):c.661G>C (p.Ala221Pro) rs901331947 0.00002
NM_012179.4(FBXO7):c.*198T>G rs951733600 0.00001
NM_012179.4(FBXO7):c.*263A>G rs886057422 0.00001
NM_012179.4(FBXO7):c.*282A>T rs886057423 0.00001
NM_012179.4(FBXO7):c.-130C>T rs1399012413 0.00001
NM_012179.4(FBXO7):c.114G>C (p.Trp38Cys) rs1315592404 0.00001
NM_012179.4(FBXO7):c.1388C>T (p.Ser463Leu) rs1182785309 0.00001
NM_012179.4(FBXO7):c.1527C>A (p.Pro509=) rs758609287 0.00001
NM_012179.4(FBXO7):c.32C>T (p.Thr11Ile) rs1233525301 0.00001
NM_012179.4(FBXO7):c.358C>T (p.Pro120Ser) rs191469599 0.00001
NM_012179.4(FBXO7):c.447G>A (p.Glu149=) rs1012166328 0.00001
NM_012179.4(FBXO7):c.521C>T (p.Ser174Leu) rs376455464 0.00001
NM_012179.4(FBXO7):c.571G>C (p.Asp191His) rs1021814487 0.00001
NM_012179.4(FBXO7):c.745A>G (p.Thr249Ala) rs749742547 0.00001
NC_000022.10:g.(?_32870990)_(32875282_?)dup
NM_012179.3(FBXO7):c.[274G>C];[520T>A]
NM_012179.4(FBXO7):c.*104T>C rs1601521158
NM_012179.4(FBXO7):c.-118T>G rs886057418
NM_012179.4(FBXO7):c.1048C>T (p.Arg350Cys)
NM_012179.4(FBXO7):c.1181_1182+1del rs2057568606
NM_012179.4(FBXO7):c.1183C>T (p.Leu395=)
NM_012179.4(FBXO7):c.1198C>A (p.His400Asn) rs2057587664
NM_012179.4(FBXO7):c.122+3A>G
NM_012179.4(FBXO7):c.1266T>G (p.Ile422Met) rs2057588908
NM_012179.4(FBXO7):c.1268_1272dup (p.Tyr425fs) rs749534144
NM_012179.4(FBXO7):c.127A>G (p.Asn43Asp)
NM_012179.4(FBXO7):c.1309T>A (p.Ser437Thr)
NM_012179.4(FBXO7):c.1332C>G (p.Ile444Met) rs755248108
NM_012179.4(FBXO7):c.1386T>G (p.Ser462Arg) rs1837515279
NM_012179.4(FBXO7):c.1453G>C (p.Val485Leu) rs141286570
NM_012179.4(FBXO7):c.1536_1539del (p.Arg513fs) rs772175765
NM_012179.4(FBXO7):c.1537C>T (p.Arg513Trp)
NM_012179.4(FBXO7):c.1541del (p.Pro514fs) rs2146009781
NM_012179.4(FBXO7):c.1546G>C (p.Asp516His) rs34316445
NM_012179.4(FBXO7):c.1546G>T (p.Asp516Tyr) rs34316445
NM_012179.4(FBXO7):c.1553G>A (p.Arg518Gln) rs771304029
NM_012179.4(FBXO7):c.1566G>C (p.Met522Ile)
NM_012179.4(FBXO7):c.185C>A (p.Thr62Asn)
NM_012179.4(FBXO7):c.195A>G (p.Ser65=)
NM_012179.4(FBXO7):c.251C>T (p.Ala84Val)
NM_012179.4(FBXO7):c.256A>G (p.Asn86Asp)
NM_012179.4(FBXO7):c.260T>C (p.Ile87Thr) rs780055842
NM_012179.4(FBXO7):c.284A>T (p.His95Leu) rs771482489
NM_012179.4(FBXO7):c.349G>T (p.Asp117Tyr)
NM_012179.4(FBXO7):c.367T>G (p.Ser123Ala) rs2057448381
NM_012179.4(FBXO7):c.400T>G (p.Trp134Gly)
NM_012179.4(FBXO7):c.430C>G (p.Gln144Glu) rs2057480636
NM_012179.4(FBXO7):c.437T>C (p.Phe146Ser)
NM_012179.4(FBXO7):c.464C>A (p.Ala155Glu) rs61730784
NM_012179.4(FBXO7):c.49C>G (p.Pro17Ala) rs886057420
NM_012179.4(FBXO7):c.52G>A (p.Glu18Lys)
NM_012179.4(FBXO7):c.587A>G (p.Asn196Ser)
NM_012179.4(FBXO7):c.593C>G (p.Ala198Gly) rs2057482701
NM_012179.4(FBXO7):c.652G>A (p.Glu218Lys)
NM_012179.4(FBXO7):c.665T>G (p.Leu222Arg)
NM_012179.4(FBXO7):c.674C>G (p.Pro225Arg) rs112660869
NM_012179.4(FBXO7):c.674C>T (p.Pro225Leu) rs112660869
NM_012179.4(FBXO7):c.697G>A (p.Val233Met) rs1388222868
NM_012179.4(FBXO7):c.726_727del (p.Cys243fs) rs1290655316
NM_012179.4(FBXO7):c.812T>C (p.Ile271Thr)
NM_012179.4(FBXO7):c.899A>T (p.Asp300Val) rs2146000180
NM_012179.4(FBXO7):c.911T>A (p.Leu304His)
NM_012179.4(FBXO7):c.944C>T (p.Pro315Leu)
NM_012179.4(FBXO7):c.957T>C (p.Phe319=) rs2057532824

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