ClinVar Miner

List of variants in gene BBS9 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_198428.3(BBS9):c.1330-62C>T rs9785054 0.99266
NM_198428.3(BBS9):c.112+106C>G rs1969575 0.84009
NM_198428.3(BBS9):c.*110C>T rs1050721 0.45573
NM_198428.3(BBS9):c.*103T>C rs1050719 0.40841
NM_198428.3(BBS9):c.1275+88T>C rs10486527 0.26919
NM_198428.3(BBS9):c.1275+13G>T rs11981364 0.26909
NM_198428.3(BBS9):c.702+232T>C rs7793862 0.25565
NM_198428.3(BBS9):c.112+234C>T rs60310820 0.20141
NM_198428.3(BBS9):c.1363G>A (p.Ala455Thr) rs11773504 0.17589
NM_198428.3(BBS9):c.1432+328C>T rs4270862 0.17524
NM_198428.3(BBS9):c.264-131G>A rs12701275 0.15966
NM_198428.3(BBS9):c.263+39A>G rs17169881 0.15964
NM_198428.3(BBS9):c.113-147T>C rs1406606 0.15945
NM_198428.3(BBS9):c.-11-245T>C rs13244450 0.15520
NM_198428.3(BBS9):c.112+90T>A rs116927029 0.15502
NM_198428.3(BBS9):c.112+89T>G rs77462109 0.15501
NM_198428.3(BBS9):c.263+128G>T rs10241188 0.15421
NM_198428.3(BBS9):c.1537+154G>A rs35557465 0.15165
NM_198428.3(BBS9):c.1538-91A>G rs11769616 0.15160
NM_198428.3(BBS9):c.1789+250G>C rs3735420 0.15093
NM_198428.3(BBS9):c.328+246G>C rs34171272 0.14377
NM_198428.3(BBS9):c.702+121A>G rs7810388 0.14176
NM_198428.3(BBS9):c.703-139del rs11308055 0.11362
NM_198428.3(BBS9):c.112+341A>G rs143737725 0.10529
NM_198428.3(BBS9):c.328+212T>C rs3828996 0.09960
NM_198428.3(BBS9):c.1537+204T>A rs6955645 0.07863
NM_198428.3(BBS9):c.886+219A>C rs7803922 0.07823
NM_198428.3(BBS9):c.263+137C>T rs34249217 0.06481
NM_198428.3(BBS9):c.1537+159A>T rs76983967 0.05923
NM_198428.3(BBS9):c.2299-350A>G rs17170282 0.05184
NM_198428.3(BBS9):c.328+22G>A rs6462461 0.04897
NM_198428.3(BBS9):c.618-54T>G rs41276009 0.04033
NM_198428.3(BBS9):c.1017-6T>C rs61756571 0.03520
NM_198428.3(BBS9):c.1553-102G>A rs77658276 0.03406
NM_198428.3(BBS9):c.1029A>G (p.Gly343=) rs35195153 0.02890
NM_198428.3(BBS9):c.1284C>T (p.Thr428=) rs6964382 0.02858
NM_198428.3(BBS9):c.1433-328C>A rs111340925 0.02812
NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr) rs73688160 0.01649
NM_198428.3(BBS9):c.*138A>C rs59454255 0.01586
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val) rs138072724 0.00599
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val) rs116483694 0.00287
NM_198428.3(BBS9):c.2336T>A (p.Leu779Gln) rs142434516 0.00185
NM_198428.3(BBS9):c.2258A>T (p.Glu753Val) rs61764068 0.00066
NM_198428.3(BBS9):c.2309A>G (p.Glu770Gly) rs149668719 0.00013
NM_198428.3(BBS9):c.928A>G (p.Asn310Asp) rs369647403 0.00011
NM_198428.3(BBS9):c.436G>A (p.Val146Ile) rs372412756 0.00010
NM_198428.3(BBS9):c.1889A>G (p.Lys630Arg) rs561404900 0.00004
NM_198428.3(BBS9):c.2632G>T (p.Glu878Ter) rs150826095 0.00004
NM_198428.3(BBS9):c.2273C>T (p.Pro758Leu) rs757754301 0.00003
NM_198428.3(BBS9):c.2488G>A (p.Asp830Asn) rs368704638 0.00003
NM_198428.3(BBS9):c.761A>G (p.Asn254Ser) rs1279852557 0.00001
NM_198428.3(BBS9):c.832C>T (p.Arg278Ter) rs767005321 0.00001
GRCh38/hg38 7p14.3(chr7:33130103-33146967)x3
NM_198428.3(BBS9):c.1063C>T (p.Gln355Ter) rs137852858
NM_198428.3(BBS9):c.112+352_112+354del rs36056577
NM_198428.3(BBS9):c.1432+47T>A rs73101660
NM_198428.3(BBS9):c.158G>T (p.Ser53Ile) rs2128108169
NM_198428.3(BBS9):c.1789+1G>A rs201938124
NM_198428.3(BBS9):c.2116-177dup rs3832512

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