ClinVar Miner

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

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ClinVar version:
Total variants: 100
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HGVS dbSNP
GRCh37/hg19 11q13.2(chr11:66290130-66305022)
GRCh37/hg19 2p13.1(chr2:73617393-73789869)
GRCh38/hg38 11q13.2(chr11:66507369-66525103)
GRCh38/hg38 11q13.2(chr11:66520912-66526178)
GRCh38/hg38 11q13.2(chr11:66528892-66536798)
GRCh38/hg38 15q24.1(chr15:72708224-72714485)
GRCh38/hg38 15q24.1(chr15:72714229-72721948)
GRCh38/hg38 15q24.1(chr15:72714243-72720447)
GRCh38/hg38 16q13(chr16:56496014-56504285)
GRCh38/hg38 2q31.1(chr2:169498679-169508441)
GRCh38/hg38 3q11.2(chr3:97779512-97864516)
GRCh38/hg38 3q11.2(chr3:97790061-97794169)
GRCh38/hg38 9p21.2(chr9:27040565-27060992)
NC_000001.10:g.[5910699_6038368dup;6051187_6158763dup]
NC_000002.12:g.169504481_169504487del
NC_000011.10:g.(?_66529809)_(66532047_?)del
NM_001165927.1(MKS1):c.1319T>C (p.Ile440Thr) rs200865108
NM_001165927.1(MKS1):c.1358G>A (p.Arg453Gln) rs201619500
NM_001378454.1(ALMS1):c.7580dup (p.Tyr2527Ter)
NM_014408.5(TRAPPC3):c.184C>T (p.Arg62Trp) rs751375244
NM_015662.3(IFT172):c.296G>A (p.Trp99Ter)
NM_015910.7(WDPCP):c.1916-2A>G rs763299856
NM_015910.7(WDPCP):c.633+2T>C
NM_015910.7(WDPCP):c.75+1G>T
NM_018848.3(MKKS):c.1235G>T (p.Cys412Phe) rs1396840386
NM_018848.3(MKKS):c.837del (p.Gly280fs) rs776004321
NM_024649.5(BBS1):c.1110+3G>C rs762276925
NM_024649.5(BBS1):c.1110G>A (p.Pro370=) rs183771956
NM_024649.5(BBS1):c.1111-2A>G
NM_024649.5(BBS1):c.1131_1135del (p.Cys377fs) rs786204701
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) rs121917777
NM_024649.5(BBS1):c.432+1G>A rs587777829
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) rs786204444
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn) rs200688985
NM_024649.5(BBS1):c.46A>T (p.Ser16Cys) rs772917364
NM_024649.5(BBS1):c.48-2A>C rs764245266
NM_024649.5(BBS1):c.480-2A>C
NM_024649.5(BBS1):c.723+1G>C
NM_024649.5(BBS1):c.724-1G>C rs748523268
NM_024649.5(BBS1):c.831-2A>G rs1057517332
NM_024649.5(BBS1):c.951+1G>A rs746875134
NM_024685.4(BBS10):c.1184A>G (p.His395Arg)
NM_024685.4(BBS10):c.1184dup (p.His395fs) rs786204573
NM_024685.4(BBS10):c.1250C>T (p.Ala417Val) rs537219462
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer) rs775950661
NM_024685.4(BBS10):c.2122_2123del (p.Lys708fs)
NM_024685.4(BBS10):c.235dup (p.Thr79fs) rs760693838
NM_024685.4(BBS10):c.646dup (p.Asp216fs) rs1555202695
NM_024685.4(BBS10):c.962A>G (p.Tyr321Cys) rs771325212
NM_031885.4(BBS2):c.1770del (p.Phe590fs) rs193922711
NM_031885.4(BBS2):c.1909_1910del (p.Met637fs) rs1555521379
NM_031885.4(BBS2):c.2107C>T (p.Arg703Ter) rs567573386
NM_031885.4(BBS2):c.241G>T (p.Gly81Cys) rs750506474
NM_031885.4(BBS2):c.345+5G>A rs1430976492
NM_031885.4(BBS2):c.401C>G (p.Pro134Arg) rs376306240
NM_031885.4(BBS2):c.806T>G (p.Val269Gly) rs886039797
NM_031885.4(BBS2):c.941-2A>C rs878962682
NM_031885.4(BBS2):c.943C>T (p.Arg315Trp) rs121908178
NM_031885.5(BBS2):c.1080+2T>C
NM_031885.5(BBS2):c.1166_1169del (p.Val389fs)
NM_031885.5(BBS2):c.1206dup (p.Arg403fs)
NM_031885.5(BBS2):c.1397+1G>A
NM_031885.5(BBS2):c.1398-2A>G
NM_031885.5(BBS2):c.1797G>A (p.Lys599=)
NM_031885.5(BBS2):c.612+1G>T
NM_031885.5(BBS2):c.718-2A>C
NM_031885.5(BBS2):c.804+1_804+14del
NM_031885.5(BBS2):c.941-1G>C
NM_033028.5(BBS4):c.1036+1G>A
NM_033028.5(BBS4):c.1106+2T>A rs886041464
NM_033028.5(BBS4):c.1248+1G>T
NM_033028.5(BBS4):c.24+1G>T
NM_033028.5(BBS4):c.333-1G>C
NM_033028.5(BBS4):c.424G>A (p.Gly142Arg) rs1595935759
NM_033028.5(BBS4):c.626G>A (p.Gly209Glu) rs372822977
NM_033028.5(BBS4):c.830G>T (p.Gly277Val) rs749017489
NM_144596.4(TTC8):c.559C>T (p.Gln187Ter)
NM_144596.4(TTC8):c.579+5G>A
NM_144596.4(TTC8):c.710+1G>A
NM_144596.4(TTC8):c.799-2A>G
NM_144596.4(TTC8):c.910-1G>A
NM_152384.3(BBS5):c.142+1G>T
NM_152384.3(BBS5):c.143-1G>C rs1054138918
NM_152384.3(BBS5):c.532G>A (p.Gly178Arg) rs786205636
NM_152384.3(BBS5):c.817-1G>A rs1466289570
NM_152618.3(BBS12):c.1574G>A (p.Arg525His) rs776730549
NM_152618.3(BBS12):c.2060_2063del (p.Asp687fs) rs746478265
NM_152618.3(BBS12):c.865G>C (p.Ala289Pro) rs121918328
NM_176824.3(BBS7):c.1371+1G>A rs1578537379
NM_176824.3(BBS7):c.1512-1G>A
NM_176824.3(BBS7):c.1677-490_1804del rs1578522416
NM_176824.3(BBS7):c.1786+1G>T rs1560638613
NM_176824.3(BBS7):c.1786G>A (p.Glu596Lys) rs1233058112
NM_176824.3(BBS7):c.187G>A (p.Gly63Arg)
NM_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs) rs672601379
NM_176824.3(BBS7):c.878A>C (p.Gln293Pro)
NM_176824.3(BBS7):c.968A>G (p.His323Arg) rs119466001
NM_198428.3(BBS9):c.1552+2T>A rs1563049863
NM_198428.3(BBS9):c.1789+1G>T rs201938124

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