ClinVar Miner

List of variants in gene BBS9 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 105
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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.1849A>C (p.Ile617Leu) rs34209904 0.01256
NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile) rs59252892 0.00979
NM_198428.3(BBS9):c.555C>T (p.Ala185=) rs35440033 0.00871
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val) rs138072724 0.00599
NM_198428.3(BBS9):c.2632+9C>A rs148654647 0.00242
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) rs150399299 0.00219
NM_198428.3(BBS9):c.2336T>A (p.Leu779Gln) rs142434516 0.00185
NM_198428.3(BBS9):c.2105C>A (p.Thr702Asn) rs149362446 0.00081
NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys) rs146752751 0.00076
NM_198428.3(BBS9):c.2214C>T (p.Ile738=) rs148536971 0.00071
NM_198428.3(BBS9):c.2258A>T (p.Glu753Val) rs61764068 0.00066
NM_198428.3(BBS9):c.2363C>T (p.Ser788Phe) rs61753526 0.00053
NM_198428.3(BBS9):c.1918A>G (p.Ile640Val) rs144112103 0.00034
NM_198428.3(BBS9):c.1559C>T (p.Pro520Leu) rs769669385 0.00021
NM_198428.3(BBS9):c.771A>G (p.Ala257=) rs145007686 0.00021
NM_198428.3(BBS9):c.736C>T (p.Leu246Phe) rs140821420 0.00016
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.1768G>A (p.Val590Ile) rs143016114 0.00008
NM_198428.3(BBS9):c.2403A>G (p.Ile801Met) rs137993290 0.00006
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.1606C>T (p.Leu536=) rs576401162 0.00003
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.2059A>G (p.Lys687Glu) rs760800602 0.00002
NM_198428.3(BBS9):c.1120C>T (p.Arg374Ter) rs998200637 0.00001
NM_198428.3(BBS9):c.1352T>C (p.Ile451Thr) rs773192233 0.00001
NM_198428.3(BBS9):c.1693+1G>A rs1295000119 0.00001
NM_198428.3(BBS9):c.761A>G (p.Asn254Ser) rs1279852557 0.00001
NM_198428.3(BBS9):c.832C>T (p.Arg278Ter) rs767005321 0.00001
GRCh37/hg19 7p14.3(chr7:33191099-33257303)x1
GRCh37/hg19 7p14.3(chr7:33248422-33611480)x4
GRCh37/hg19 7p14.3(chr7:33251174-33415723)x1
GRCh37/hg19 7p14.3(chr7:33304341-33457501)x1
GRCh37/hg19 7p14.3(chr7:33327326-33587544)x1
GRCh37/hg19 7p14.3(chr7:33431363-33552840)x1
GRCh37/hg19 7p14.3(chr7:33450970-33586514)x1
GRCh37/hg19 7p14.3(chr7:33467039-33531339)x1
GRCh37/hg19 7p14.3(chr7:33489068-33722022)x3
GRCh37/hg19 7p14.3(chr7:33586413-33813723)x3
NM_198428.3(BBS9):c.1063C>T (p.Gln355Ter) rs137852858
NM_198428.3(BBS9):c.1113T>A (p.Val371=) rs1584387772
NM_198428.3(BBS9):c.112+352_112+354del rs36056577
NM_198428.3(BBS9):c.113-6C>T rs1368410932
NM_198428.3(BBS9):c.113-8C>T rs1193975738
NM_198428.3(BBS9):c.1167del (p.Ile391fs) rs886042258
NM_198428.3(BBS9):c.1308T>C (p.Leu436=) rs886043248
NM_198428.3(BBS9):c.1432+47T>A rs73101660
NM_198428.3(BBS9):c.1468del (p.Tyr490fs) rs1454474832
NM_198428.3(BBS9):c.158G>T (p.Ser53Ile) rs2128108169
NM_198428.3(BBS9):c.1713T>C (p.Asp571=) rs1584516022
NM_198428.3(BBS9):c.1779C>T (p.Ser593=)
NM_198428.3(BBS9):c.1789+1G>A rs201938124
NM_198428.3(BBS9):c.1875A>G (p.Glu625=) rs1584588891
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs) rs606231137
NM_198428.3(BBS9):c.1962_1963insAAATTATTCATTGGAG (p.Leu655fs) rs1825528981
NM_198428.3(BBS9):c.2072C>G (p.Pro691Arg) rs759571062
NM_198428.3(BBS9):c.2116-177dup rs3832512
NM_198428.3(BBS9):c.263C>A (p.Ser88Ter) rs749974697
NM_198428.3(BBS9):c.329-6C>T rs1445078208
NM_198428.3(BBS9):c.329-7dup rs753552530
NM_198428.3(BBS9):c.558C>G (p.Tyr186Ter) rs1562888583
NM_198428.3(BBS9):c.801_803del (p.Phe269del) rs780367770
Single allele

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