ClinVar Miner

List of variants in gene BBS9 reported as likely benign by PreventionGenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_198428.3(BBS9):c.2105C>A (p.Thr702Asn) rs149362446 0.00081
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.2322C>T (p.Ala774=) rs145435891 0.00037
NM_198428.3(BBS9):c.887-7C>T rs376333670 0.00036
NM_198428.3(BBS9):c.771A>G (p.Ala257=) rs145007686 0.00021
NM_198428.3(BBS9):c.195C>T (p.Ala65=) rs373063776 0.00010
NM_198428.3(BBS9):c.2313G>A (p.Thr771=) rs374269883 0.00008
NM_198428.3(BBS9):c.2241C>T (p.Asp747=) rs144089673 0.00007
NM_198428.3(BBS9):c.1560G>A (p.Pro520=) rs779586578 0.00006
NM_198428.3(BBS9):c.174A>G (p.Lys58=) rs148812031 0.00006
NM_198428.3(BBS9):c.270C>T (p.Thr90=) rs747398844 0.00005
NM_198428.3(BBS9):c.1611A>C (p.Pro537=) rs140411078 0.00004
NM_198428.3(BBS9):c.600A>G (p.Gln200=) rs764060515 0.00004
NM_198428.3(BBS9):c.1236C>T (p.Asn412=) rs139235142 0.00003
NM_198428.3(BBS9):c.1377C>T (p.Val459=) rs763552337 0.00003
NM_198428.3(BBS9):c.2487C>T (p.Thr829=) rs746373450 0.00003
NM_198428.3(BBS9):c.2538C>T (p.Ile846=) rs376692708 0.00003
NM_198428.3(BBS9):c.2445C>G (p.Leu815=) rs758338410 0.00002
NM_198428.3(BBS9):c.1329+5T>C rs200033003 0.00001
NM_198428.3(BBS9):c.1464T>C (p.Ser488=) rs200850911 0.00001
NM_198428.3(BBS9):c.2448C>T (p.Cys816=) rs375606348 0.00001
NM_198428.3(BBS9):c.954G>A (p.Val318=) rs774067100 0.00001
NM_001348041.4(BBS9):c.2656G>A (p.Glu886Lys)
NM_001348041.4(BBS9):c.2667C>A (p.Thr889=)
NM_198428.3(BBS9):c.1230C>T (p.Asp410=)
NM_198428.3(BBS9):c.1330-10G>T
NM_198428.3(BBS9):c.1425A>G (p.Glu475=)
NM_198428.3(BBS9):c.1716T>C (p.Asp572=)
NM_198428.3(BBS9):c.1779C>T (p.Ser593=)
NM_198428.3(BBS9):c.195C>A (p.Ala65=) rs373063776
NM_198428.3(BBS9):c.1963-4G>A
NM_198428.3(BBS9):c.2179C>T (p.Leu727=) rs373177157
NM_198428.3(BBS9):c.2217G>A (p.Ala739=) rs749322793
NM_198428.3(BBS9):c.222A>G (p.Leu74=)
NM_198428.3(BBS9):c.2262G>A (p.Ala754=) rs751886707
NM_198428.3(BBS9):c.2421A>G (p.Gln807=)
NM_198428.3(BBS9):c.2633-5dup rs761809109
NM_198428.3(BBS9):c.328+5G>T
NM_198428.3(BBS9):c.329-6C>A
NM_198428.3(BBS9):c.443-3T>C
NM_198428.3(BBS9):c.615T>C (p.Tyr205=)
NM_198428.3(BBS9):c.936G>T (p.Leu312=)

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