ClinVar Miner

List of variants reported as likely pathogenic for Bardet-Biedl syndrome by Invitae

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ClinVar version:
Total variants: 139
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HGVS dbSNP gnomAD frequency
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val) rs758217005 0.00012
NM_015910.7(WDPCP):c.209-1G>A rs767481770 0.00006
NM_031885.5(BBS2):c.1207C>T (p.Arg403Cys) rs766873519 0.00004
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu) rs1450190654 0.00004
NM_012210.4(TRIM32):c.1181G>A (p.Arg394His) rs121434447 0.00002
NM_024649.5(BBS1):c.1110G>A (p.Pro370=) rs183771956 0.00002
NM_024649.5(BBS1):c.479+2T>G rs1353098253 0.00002
NM_024649.5(BBS1):c.1111-2A>G rs761969357 0.00001
NM_024649.5(BBS1):c.664G>C (p.Gly222Arg) rs761760689 0.00001
NM_024649.5(BBS1):c.952-1G>A rs1057516661 0.00001
NM_031885.5(BBS2):c.1080+2T>C rs771554923 0.00001
NM_031885.5(BBS2):c.117+1G>A rs1964866367 0.00001
NM_031885.5(BBS2):c.1398-2A>G rs767609303 0.00001
NM_031885.5(BBS2):c.345+5G>A rs1430976492 0.00001
NM_031885.5(BBS2):c.471G>A (p.Thr157=) rs749983428 0.00001
NM_031885.5(BBS2):c.522T>A (p.Asp174Glu) rs767373822 0.00001
NM_031885.5(BBS2):c.612+1G>T rs1964531402 0.00001
NM_031885.5(BBS2):c.940+1del rs746171104 0.00001
NM_033028.5(BBS4):c.1103A>G (p.Asp368Gly) rs772548770 0.00001
NM_144596.4(TTC8):c.265+1G>A rs139234943 0.00001
NM_152384.3(BBS5):c.209-2A>G rs1477098739 0.00001
NM_152384.3(BBS5):c.413G>A (p.Arg138His) rs179363897 0.00001
NM_152384.3(BBS5):c.817-1G>T rs1466289570 0.00001
NM_152618.3(BBS12):c.1276T>C (p.Cys426Arg) rs771456483 0.00001
NM_152618.3(BBS12):c.1574G>A (p.Arg525His) rs776730549 0.00001
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser) rs565073445 0.00001
NM_152618.3(BBS12):c.865G>C (p.Ala289Pro) rs121918328 0.00001
NM_198428.3(BBS9):c.442+1G>C rs587777811 0.00001
NC_000002.11:g.(?_63380029)_(63380729_?)dup
NC_000007.13:g.(?_33192293)_(33192483_?)dup
NC_000007.13:g.(?_33195240)_(33195324_?)dup
NC_000007.13:g.(?_33312604)_(33313588_?)dup
NC_000011.9:g.(?_66281867)_(66288857_?)dup
NC_000011.9:g.(?_66290917)_(66294288_?)dup
NC_000015.9:g.(?_73004565)_(73009211_?)del
NM_015910.7(WDPCP):c.1436-1G>C rs959923850
NM_015910.7(WDPCP):c.161-1G>C
NM_015910.7(WDPCP):c.1813-2A>T rs2104772718
NM_015910.7(WDPCP):c.1915+2del
NM_015910.7(WDPCP):c.1916-2A>G rs763299856
NM_015910.7(WDPCP):c.253+1G>A
NM_015910.7(WDPCP):c.633+2T>C rs765356177
NM_015910.7(WDPCP):c.75+1G>T rs1486299333
NM_015910.7(WDPCP):c.825+1G>A
NM_024649.5(BBS1):c.1097T>A (p.Val366Asp)
NM_024649.5(BBS1):c.1110+1G>C rs2134797993
NM_024649.5(BBS1):c.1110+2T>C
NM_024649.5(BBS1):c.1110+2T>G rs1565286223
NM_024649.5(BBS1):c.1125C>A (p.Ser375Arg)
NM_024649.5(BBS1):c.1180+1G>T
NM_024649.5(BBS1):c.1181-1G>C
NM_024649.5(BBS1):c.1339+1G>A
NM_024649.5(BBS1):c.1474-1G>A rs2134836650
NM_024649.5(BBS1):c.159+1G>A
NM_024649.5(BBS1):c.159+2del rs1348187150
NM_024649.5(BBS1):c.160-1G>A
NM_024649.5(BBS1):c.480-2A>C rs1856035426
NM_024649.5(BBS1):c.723+1G>A
NM_024649.5(BBS1):c.794C>A (p.Ala265Glu) rs372939761
NM_024649.5(BBS1):c.830+2T>A
NM_024685.4(BBS10):c.1010AAG[1] (p.Glu338del) rs750611000
NM_024685.4(BBS10):c.1250C>T (p.Ala417Val) rs537219462
NM_024685.4(BBS10):c.197G>A (p.Arg66Lys)
NM_024685.4(BBS10):c.968C>T (p.Ala323Val)
NM_031885.5(BBS2):c.1062C>G (p.Asn354Lys) rs1567576202
NM_031885.5(BBS2):c.1081-1G>A rs1555522000
NM_031885.5(BBS2):c.118-1G>T
NM_031885.5(BBS2):c.118-2A>C
NM_031885.5(BBS2):c.1225+2T>C
NM_031885.5(BBS2):c.1397+1G>A rs1225299095
NM_031885.5(BBS2):c.1397+2T>C
NM_031885.5(BBS2):c.1527+1G>A rs2144138948
NM_031885.5(BBS2):c.1527+2T>G
NM_031885.5(BBS2):c.1528-1G>C rs2144135065
NM_031885.5(BBS2):c.1797G>A (p.Lys599=) rs1177431007
NM_031885.5(BBS2):c.1798-2A>G rs2144130282
NM_031885.5(BBS2):c.1911-1G>A rs1555520256
NM_031885.5(BBS2):c.1911-1G>C
NM_031885.5(BBS2):c.1911-986_1914del
NM_031885.5(BBS2):c.269A>G (p.Asp90Gly) rs1228731722
NM_031885.5(BBS2):c.345+1G>A
NM_031885.5(BBS2):c.535-1G>A
NM_031885.5(BBS2):c.535-2A>G rs1555523398
NM_031885.5(BBS2):c.79A>C (p.Thr27Pro)
NM_031885.5(BBS2):c.804+1G>T rs2144162056
NM_031885.5(BBS2):c.804+1_804+14del rs1202682571
NM_031885.5(BBS2):c.941-2A>G
NM_033028.5(BBS4):c.1036+1G>A rs2151048301
NM_033028.5(BBS4):c.1106+2T>A rs886041464
NM_033028.5(BBS4):c.1234_1248+5del
NM_033028.5(BBS4):c.1249-3_1259del
NM_033028.5(BBS4):c.24+1G>A rs759520211
NM_033028.5(BBS4):c.24+1G>T rs759520211
NM_033028.5(BBS4):c.24+2T>G
NM_033028.5(BBS4):c.332+1G>T
NM_033028.5(BBS4):c.333-1G>C rs2065474809
NM_033028.5(BBS4):c.333-2A>C
NM_033028.5(BBS4):c.642+1G>A
NM_033028.5(BBS4):c.642+1G>T
NM_033028.5(BBS4):c.711+1G>A rs2151044091
NM_033028.5(BBS4):c.830G>T (p.Gly277Val) rs749017489
NM_033028.5(BBS4):c.864+1G>A
NM_033028.5(BBS4):c.865-3_865-2del
NM_144596.4(TTC8):c.114+2T>C rs1273244823
NM_144596.4(TTC8):c.1387del (p.His463fs) rs2141044380
NM_144596.4(TTC8):c.579+5G>A rs2140977987
NM_144596.4(TTC8):c.710+1G>A rs2140999630
NM_144596.4(TTC8):c.799-1G>T
NM_144596.4(TTC8):c.799-2A>G rs771218088
NM_144596.4(TTC8):c.910-1G>A rs2141033061
NM_152384.3(BBS5):c.142+1G>T rs2105291750
NM_152384.3(BBS5):c.259-1G>A
NM_152384.3(BBS5):c.259-3C>G rs564412855
NM_152384.3(BBS5):c.59+5G>T
NM_152384.3(BBS5):c.60-2A>C
NM_152384.3(BBS5):c.681+1G>T
NM_152384.3(BBS5):c.817-1G>A rs1466289570
NM_152618.3(BBS12):c.1225G>A (p.Val409Met) rs1578491070
NM_152618.3(BBS12):c.880T>G (p.Tyr294Asp)
NM_176824.3(BBS7):c.102+1G>T
NM_176824.3(BBS7):c.103-268_112del
NM_176824.3(BBS7):c.1305+1G>A
NM_176824.3(BBS7):c.1305+2T>A
NM_176824.3(BBS7):c.1306-1_1308del
NM_176824.3(BBS7):c.1371+1G>A rs1578537379
NM_176824.3(BBS7):c.1512-1G>A rs2149054421
NM_176824.3(BBS7):c.166-2A>G
NM_176824.3(BBS7):c.1786+1G>T rs1560638613
NM_176824.3(BBS7):c.1786+2T>C
NM_176824.3(BBS7):c.1891-2A>C rs1057519027
NM_198428.3(BBS9):c.1329+1738C>T
NM_198428.3(BBS9):c.1433-2A>G
NM_198428.3(BBS9):c.1552+2T>A rs1563049863
NM_198428.3(BBS9):c.2115+1G>A rs886039801
NM_198428.3(BBS9):c.2299-2A>C
NM_198428.3(BBS9):c.2521+1G>T
NM_198428.3(BBS9):c.292_328+3delinsAAATATTTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
NM_198428.3(BBS9):c.702+1G>T
NM_198428.3(BBS9):c.703-2A>G

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