ClinVar Miner

List of variants in gene BBS7 reported as likely benign for Bardet-Biedl syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 258
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HGVS dbSNP gnomAD frequency
NM_176824.3(BBS7):c.1235A>G (p.Asp412Gly) rs111442398 0.00154
NM_176824.3(BBS7):c.1890+9_1890+10del rs772355304 0.00041
NM_176824.3(BBS7):c.165+16T>C rs371497491 0.00034
NM_176824.3(BBS7):c.1158A>G (p.Thr386=) rs146617227 0.00029
NM_176824.3(BBS7):c.280A>T (p.Thr94Ser) rs202102193 0.00016
NM_176824.3(BBS7):c.123T>C (p.Asp41=) rs148011561 0.00013
NM_176824.3(BBS7):c.718+9T>C rs374523374 0.00011
NM_176824.3(BBS7):c.1511+19C>A rs201524145 0.00010
NM_176824.3(BBS7):c.864C>T (p.Ser288=) rs142376157 0.00008
NM_176824.3(BBS7):c.1231-16T>C rs781657811 0.00006
NM_176824.3(BBS7):c.1890+19G>A rs779382577 0.00006
NM_176824.3(BBS7):c.1511+9A>G rs192602290 0.00005
NM_176824.3(BBS7):c.654T>C (p.Leu218=) rs377333596 0.00005
NM_176824.3(BBS7):c.1314C>T (p.Asp438=) rs774070535 0.00004
NM_176824.3(BBS7):c.1806C>G (p.Val602=) rs752970955 0.00004
NM_176824.3(BBS7):c.865G>A (p.Val289Ile) rs200770952 0.00004
NM_176824.3(BBS7):c.1512-12A>G rs369411905 0.00003
NM_176824.3(BBS7):c.192G>A (p.Pro64=) rs775906320 0.00003
NM_176824.3(BBS7):c.719-16A>G rs1311400903 0.00003
NM_176824.3(BBS7):c.789C>T (p.Asp263=) rs140478463 0.00003
NM_176824.3(BBS7):c.1191C>T (p.Ile397=) rs144483021 0.00002
NM_176824.3(BBS7):c.1305+13A>G rs773872987 0.00002
NM_176824.3(BBS7):c.1677-12T>C rs1169349356 0.00002
NM_176824.3(BBS7):c.1755A>G (p.Thr585=) rs1725022392 0.00002
NM_176824.3(BBS7):c.1869G>A (p.Val623=) rs769405089 0.00002
NM_176824.3(BBS7):c.718+12A>G rs774687060 0.00002
NM_176824.3(BBS7):c.1011G>A (p.Glu337=) rs1726068187 0.00001
NM_176824.3(BBS7):c.103-15T>G rs368818439 0.00001
NM_176824.3(BBS7):c.1038-16A>G rs201278442 0.00001
NM_176824.3(BBS7):c.1053T>C (p.His351=) rs202187503 0.00001
NM_176824.3(BBS7):c.1056G>A (p.Leu352=) rs377163503 0.00001
NM_176824.3(BBS7):c.1231-15T>A rs530819337 0.00001
NM_176824.3(BBS7):c.1305+12T>C rs376754689 0.00001
NM_176824.3(BBS7):c.1306-5C>T rs1475632900 0.00001
NM_176824.3(BBS7):c.1371+14A>C rs1725624096 0.00001
NM_176824.3(BBS7):c.1676+10A>G rs767020583 0.00001
NM_176824.3(BBS7):c.1676+7C>G rs1247015446 0.00001
NM_176824.3(BBS7):c.1677-16del rs761923235 0.00001
NM_176824.3(BBS7):c.1725C>T (p.Ile575=) rs938747332 0.00001
NM_176824.3(BBS7):c.189G>T (p.Gly63=) rs541833400 0.00001
NM_176824.3(BBS7):c.1917G>A (p.Thr639=) rs770239209 0.00001
NM_176824.3(BBS7):c.1989A>G (p.Gln663=) rs753795840 0.00001
NM_176824.3(BBS7):c.2082C>A (p.Pro694=) rs759152556 0.00001
NM_176824.3(BBS7):c.2136C>T (p.Phe712=) rs199782217 0.00001
NM_176824.3(BBS7):c.213G>A (p.Leu71=) rs778509860 0.00001
NM_176824.3(BBS7):c.286A>C (p.Arg96=) rs754438760 0.00001
NM_176824.3(BBS7):c.651G>A (p.Ala217=) rs750691939 0.00001
NM_176824.3(BBS7):c.849+18G>T rs1423156185 0.00001
NM_176824.3(BBS7):c.876C>A (p.Ile292=) rs369319119 0.00001
NM_176824.3(BBS7):c.915C>T (p.Ile305=) rs776811172 0.00001
NM_176824.3(BBS7):c.102+16T>A
NM_176824.3(BBS7):c.102+8A>T
NM_176824.3(BBS7):c.103-10T>C
NM_176824.3(BBS7):c.103-4A>C rs374281147
NM_176824.3(BBS7):c.103-8T>C
NM_176824.3(BBS7):c.1037+19T>C
NM_176824.3(BBS7):c.1037+19T>G
NM_176824.3(BBS7):c.1037+20T>G
NM_176824.3(BBS7):c.1037+9_1037+14del
NM_176824.3(BBS7):c.1038-5T>G
NM_176824.3(BBS7):c.1038-7T>C
NM_176824.3(BBS7):c.1047G>A (p.Leu349=)
NM_176824.3(BBS7):c.1083G>A (p.Glu361=)
NM_176824.3(BBS7):c.1104A>G (p.Gln368=)
NM_176824.3(BBS7):c.1116A>G (p.Ala372=) rs2149068875
NM_176824.3(BBS7):c.1119A>G (p.Lys373=)
NM_176824.3(BBS7):c.114A>C (p.Gly38=)
NM_176824.3(BBS7):c.1158A>C (p.Thr386=)
NM_176824.3(BBS7):c.1158A>T (p.Thr386=) rs146617227
NM_176824.3(BBS7):c.1221C>A (p.Val407=)
NM_176824.3(BBS7):c.1221C>G (p.Val407=) rs760247807
NM_176824.3(BBS7):c.1231-11A>G
NM_176824.3(BBS7):c.1231-4A>C
NM_176824.3(BBS7):c.1231-4A>G
NM_176824.3(BBS7):c.1231-4A>T
NM_176824.3(BBS7):c.1257T>C (p.Asp419=)
NM_176824.3(BBS7):c.1263T>C (p.Asp421=)
NM_176824.3(BBS7):c.1284C>T (p.Ser428=)
NM_176824.3(BBS7):c.1287T>C (p.Phe429=)
NM_176824.3(BBS7):c.1302T>C (p.Ser434=)
NM_176824.3(BBS7):c.1305+15A>G
NM_176824.3(BBS7):c.1305+17_1305+21del rs2149066719
NM_176824.3(BBS7):c.1305+19G>T
NM_176824.3(BBS7):c.1305+7A>G
NM_176824.3(BBS7):c.1306-13G>A
NM_176824.3(BBS7):c.1306-18A>G
NM_176824.3(BBS7):c.1306-4C>A
NM_176824.3(BBS7):c.1356A>G (p.Thr452=)
NM_176824.3(BBS7):c.1360C>T (p.Leu454=)
NM_176824.3(BBS7):c.1371+11T>G
NM_176824.3(BBS7):c.1371+13G>T
NM_176824.3(BBS7):c.1371+8T>A rs2149061801
NM_176824.3(BBS7):c.1372-10G>A
NM_176824.3(BBS7):c.1372-11T>C
NM_176824.3(BBS7):c.1372-12G>A
NM_176824.3(BBS7):c.1372-19C>G rs1725398365
NM_176824.3(BBS7):c.1372-20C>T
NM_176824.3(BBS7):c.1389C>A (p.Gly463=)
NM_176824.3(BBS7):c.1402C>T (p.Leu468=)
NM_176824.3(BBS7):c.1404A>G (p.Leu468=)
NM_176824.3(BBS7):c.1410A>G (p.Ala470=) rs1725394181
NM_176824.3(BBS7):c.1425A>G (p.Arg475=)
NM_176824.3(BBS7):c.1473T>A (p.Leu491=) rs757900989
NM_176824.3(BBS7):c.1485A>G (p.Gln495=)
NM_176824.3(BBS7):c.1488A>G (p.Arg496=)
NM_176824.3(BBS7):c.1491T>G (p.Thr497=)
NM_176824.3(BBS7):c.1511+16G>A
NM_176824.3(BBS7):c.1511+18G>A
NM_176824.3(BBS7):c.1512-14C>A rs759936975
NM_176824.3(BBS7):c.1512-18T>C
NM_176824.3(BBS7):c.1512-20C>T
NM_176824.3(BBS7):c.1515C>T (p.Pro505=)
NM_176824.3(BBS7):c.153A>G (p.Lys51=)
NM_176824.3(BBS7):c.1545C>T (p.Phe515=)
NM_176824.3(BBS7):c.1554T>G (p.Ala518=)
NM_176824.3(BBS7):c.1563C>T (p.His521=) rs2149054316
NM_176824.3(BBS7):c.1590A>G (p.Glu530=)
NM_176824.3(BBS7):c.1605T>G (p.Pro535=)
NM_176824.3(BBS7):c.1611A>C (p.Ala537=)
NM_176824.3(BBS7):c.1611A>G (p.Ala537=)
NM_176824.3(BBS7):c.165+20G>A
NM_176824.3(BBS7):c.165+20G>T
NM_176824.3(BBS7):c.166-15A>C
NM_176824.3(BBS7):c.166-18C>G
NM_176824.3(BBS7):c.166-20_166-19del
NM_176824.3(BBS7):c.1671C>A (p.Thr557=)
NM_176824.3(BBS7):c.1676+13T>C
NM_176824.3(BBS7):c.1677-14T>C
NM_176824.3(BBS7):c.1698A>G (p.Lys566=)
NM_176824.3(BBS7):c.1728A>G (p.Leu576=)
NM_176824.3(BBS7):c.174C>T (p.Phe58=)
NM_176824.3(BBS7):c.1786+10_1786+13del
NM_176824.3(BBS7):c.1786+14A>G
NM_176824.3(BBS7):c.1786+20_1786+22del
NM_176824.3(BBS7):c.1786+8A>T
NM_176824.3(BBS7):c.1787-11A>C rs779593410
NM_176824.3(BBS7):c.1787-14T>C
NM_176824.3(BBS7):c.1787-16G>T
NM_176824.3(BBS7):c.1787-19del
NM_176824.3(BBS7):c.1803A>T (p.Ser601=)
NM_176824.3(BBS7):c.1812C>T (p.His604=)
NM_176824.3(BBS7):c.1818A>G (p.Leu606=)
NM_176824.3(BBS7):c.1822C>T (p.Leu608=)
NM_176824.3(BBS7):c.1830C>T (p.His610=)
NM_176824.3(BBS7):c.1849T>C (p.Leu617=)
NM_176824.3(BBS7):c.186C>G (p.Pro62=)
NM_176824.3(BBS7):c.1881T>C (p.Asp627=)
NM_176824.3(BBS7):c.1890+15C>T rs761350391
NM_176824.3(BBS7):c.1890+15_1890+16delinsTA rs2149048318
NM_176824.3(BBS7):c.1890+16G>C
NM_176824.3(BBS7):c.1890+17T>C
NM_176824.3(BBS7):c.1890+18C>T
NM_176824.3(BBS7):c.1890+19G>T
NM_176824.3(BBS7):c.1890+8C>T
NM_176824.3(BBS7):c.1890+9A>G
NM_176824.3(BBS7):c.1891-16T>G
NM_176824.3(BBS7):c.1908G>A (p.Glu636=)
NM_176824.3(BBS7):c.1948C>T (p.Leu650=)
NM_176824.3(BBS7):c.1953A>G (p.Glu651=)
NM_176824.3(BBS7):c.1965C>T (p.His655=)
NM_176824.3(BBS7):c.1966C>T (p.Leu656=)
NM_176824.3(BBS7):c.1968A>G (p.Leu656=)
NM_176824.3(BBS7):c.1992T>C (p.Pro664=) rs1724995426
NM_176824.3(BBS7):c.1995A>C (p.Ala665=)
NM_176824.3(BBS7):c.2010C>T (p.Leu670=)
NM_176824.3(BBS7):c.2014+9A>G
NM_176824.3(BBS7):c.2015-17A>T rs1226821091
NM_176824.3(BBS7):c.2015-6T>C
NM_176824.3(BBS7):c.2016C>T (p.Gly672=)
NM_176824.3(BBS7):c.2034C>T (p.Phe678=) rs2149045756
NM_176824.3(BBS7):c.2046T>C (p.Phe682=) rs753884144
NM_176824.3(BBS7):c.2067A>G (p.Val689=)
NM_176824.3(BBS7):c.2073T>C (p.Thr691=) rs2149045672
NM_176824.3(BBS7):c.2133C>T (p.Phe711=)
NM_176824.3(BBS7):c.213G>C (p.Leu71=)
NM_176824.3(BBS7):c.2142A>G (p.Ala714=) rs2149045575
NM_176824.3(BBS7):c.219G>A (p.Gly73=)
NM_176824.3(BBS7):c.237G>A (p.Gln79=)
NM_176824.3(BBS7):c.249T>C (p.Phe83=)
NM_176824.3(BBS7):c.258A>G (p.Ala86=)
NM_176824.3(BBS7):c.282A>G (p.Thr94=)
NM_176824.3(BBS7):c.282A>T (p.Thr94=)
NM_176824.3(BBS7):c.291A>G (p.Gly97=)
NM_176824.3(BBS7):c.294A>G (p.Lys98=) rs2149087496
NM_176824.3(BBS7):c.300C>T (p.Phe100=) rs750255237
NM_176824.3(BBS7):c.303C>T (p.Leu101=)
NM_176824.3(BBS7):c.306C>A (p.Ser102=)
NM_176824.3(BBS7):c.339T>G (p.Ala113=)
NM_176824.3(BBS7):c.341+10T>C
NM_176824.3(BBS7):c.341+12G>A
NM_176824.3(BBS7):c.341+17C>G
NM_176824.3(BBS7):c.341+20T>A
NM_176824.3(BBS7):c.341+20_341+21del rs755362565
NM_176824.3(BBS7):c.341+8T>C rs2149087412
NM_176824.3(BBS7):c.342-11A>G
NM_176824.3(BBS7):c.342-16A>T
NM_176824.3(BBS7):c.342-19A>G
NM_176824.3(BBS7):c.37-14G>A rs1727381941
NM_176824.3(BBS7):c.37-19A>C
NM_176824.3(BBS7):c.37-20C>T
NM_176824.3(BBS7):c.37-5T>C
NM_176824.3(BBS7):c.381C>T (p.Tyr127=)
NM_176824.3(BBS7):c.405C>T (p.Cys135=)
NM_176824.3(BBS7):c.417T>C (p.His139=)
NM_176824.3(BBS7):c.483C>A (p.Ile161=)
NM_176824.3(BBS7):c.48A>C (p.Thr16=)
NM_176824.3(BBS7):c.528+11T>A
NM_176824.3(BBS7):c.528+11T>C
NM_176824.3(BBS7):c.529-15dup
NM_176824.3(BBS7):c.529-7C>T
NM_176824.3(BBS7):c.529-7_529-5del rs758828904
NM_176824.3(BBS7):c.529-9C>G
NM_176824.3(BBS7):c.546T>C (p.Tyr182=)
NM_176824.3(BBS7):c.54G>A (p.Gln18=) rs754868012
NM_176824.3(BBS7):c.552T>C (p.Val184=)
NM_176824.3(BBS7):c.564A>G (p.Gly188=)
NM_176824.3(BBS7):c.567C>T (p.Pro189=) rs567185907
NM_176824.3(BBS7):c.579A>G (p.Leu193=)
NM_176824.3(BBS7):c.601+15A>G
NM_176824.3(BBS7):c.602-18G>A
NM_176824.3(BBS7):c.602-8A>G
NM_176824.3(BBS7):c.618C>T (p.Asp206=)
NM_176824.3(BBS7):c.627T>C (p.Phe209=) rs2149079198
NM_176824.3(BBS7):c.633A>G (p.Thr211=)
NM_176824.3(BBS7):c.666T>C (p.Thr222=)
NM_176824.3(BBS7):c.718+12A>C
NM_176824.3(BBS7):c.718+16A>T rs368687702
NM_176824.3(BBS7):c.718+20C>G
NM_176824.3(BBS7):c.719-20T>A
NM_176824.3(BBS7):c.719-20T>C
NM_176824.3(BBS7):c.726G>A (p.Leu242=) rs2149077327
NM_176824.3(BBS7):c.747T>C (p.Ile249=)
NM_176824.3(BBS7):c.756T>C (p.Asp252=)
NM_176824.3(BBS7):c.78C>G (p.Ala26=)
NM_176824.3(BBS7):c.804G>A (p.Val268=)
NM_176824.3(BBS7):c.81A>G (p.Ser27=)
NM_176824.3(BBS7):c.835C>T (p.Leu279=)
NM_176824.3(BBS7):c.849+12A>G
NM_176824.3(BBS7):c.849+12A>T
NM_176824.3(BBS7):c.849+17A>G
NM_176824.3(BBS7):c.849+9A>G
NM_176824.3(BBS7):c.849+9A>T
NM_176824.3(BBS7):c.850-20T>C
NM_176824.3(BBS7):c.850-8T>G
NM_176824.3(BBS7):c.867C>A (p.Val289=)
NM_176824.3(BBS7):c.867C>G (p.Val289=)
NM_176824.3(BBS7):c.87C>T (p.His29=)
NM_176824.3(BBS7):c.894A>G (p.Gly298=)
NM_176824.3(BBS7):c.927A>C (p.Thr309=) rs771825770
NM_176824.3(BBS7):c.934+10A>C
NM_176824.3(BBS7):c.934+10A>G
NM_176824.3(BBS7):c.934+11T>C rs1461872585
NM_176824.3(BBS7):c.934+17T>C rs1165897878
NM_176824.3(BBS7):c.935-4A>G
NM_176824.3(BBS7):c.935-8C>G
NM_176824.3(BBS7):c.945A>C (p.Thr315=)
NM_176824.3(BBS7):c.96A>T (p.Thr32=)
NM_176824.3(BBS7):c.987A>G (p.Gly329=)

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