ClinVar Miner

List of variants in gene BBS9 reported as uncertain significance for Bardet-Biedl syndrome

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Total variants: 78
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HGVS dbSNP
NC_000007.13:g.(?_33185845)_(33185996_?)dup
NC_000007.14:g.(?_33505463)_(33505645_?)del
NC_000007.14:g.(?_33505463)_(33605226_?)del
NM_198428.3(BBS9):c.*778_*780dup rs886062289
NM_198428.3(BBS9):c.-37dup rs886062282
NM_198428.3(BBS9):c.1103C>T (p.Ala368Val)
NM_198428.3(BBS9):c.1112T>C (p.Val371Ala)
NM_198428.3(BBS9):c.1147G>A (p.Val383Ile)
NM_198428.3(BBS9):c.1199G>A (p.Gly400Asp)
NM_198428.3(BBS9):c.1249G>C (p.Val417Leu)
NM_198428.3(BBS9):c.1249G>T (p.Val417Phe)
NM_198428.3(BBS9):c.1293G>C (p.Glu431Asp)
NM_198428.3(BBS9):c.138G>A (p.Met46Ile) rs145241295
NM_198428.3(BBS9):c.145C>G (p.Leu49Val)
NM_198428.3(BBS9):c.1468T>C (p.Tyr490His) rs760084192
NM_198428.3(BBS9):c.1480A>T (p.Ser494Cys)
NM_198428.3(BBS9):c.1486A>G (p.Thr496Ala) rs369146555
NM_198428.3(BBS9):c.1487C>T (p.Thr496Ile) rs139303948
NM_198428.3(BBS9):c.1538-7T>G rs375661214
NM_198428.3(BBS9):c.1558C>T (p.Pro520Ser)
NM_198428.3(BBS9):c.1559C>T (p.Pro520Leu) rs769669385
NM_198428.3(BBS9):c.155T>G (p.Phe52Cys)
NM_198428.3(BBS9):c.1562G>C (p.Arg521Pro)
NM_198428.3(BBS9):c.1670T>G (p.Val557Gly)
NM_198428.3(BBS9):c.1741C>T (p.His581Tyr)
NM_198428.3(BBS9):c.174A>G (p.Lys58=)
NM_198428.3(BBS9):c.1768G>A (p.Val590Ile) rs143016114
NM_198428.3(BBS9):c.1799G>A (p.Arg600His)
NM_198428.3(BBS9):c.1808G>C (p.Ser603Thr)
NM_198428.3(BBS9):c.1836A>G (p.Ile612Met)
NM_198428.3(BBS9):c.1911G>A (p.Ser637=) rs138454676
NM_198428.3(BBS9):c.1918A>G (p.Ile640Val) rs144112103
NM_198428.3(BBS9):c.1928A>G (p.Gln643Arg)
NM_198428.3(BBS9):c.1949A>G (p.Asp650Gly) rs201876934
NM_198428.3(BBS9):c.1962+3A>T
NM_198428.3(BBS9):c.1963-6T>C
NM_198428.3(BBS9):c.19C>T (p.Arg7Cys)
NM_198428.3(BBS9):c.2035C>T (p.Arg679Trp)
NM_198428.3(BBS9):c.2088C>A (p.Asp696Glu)
NM_198428.3(BBS9):c.2098G>A (p.Asp700Asn)
NM_198428.3(BBS9):c.20G>T (p.Arg7Leu)
NM_198428.3(BBS9):c.2245G>C (p.Val749Leu) rs1563271285
NM_198428.3(BBS9):c.2294A>G (p.Glu765Gly) rs140882212
NM_198428.3(BBS9):c.2298+5G>A
NM_198428.3(BBS9):c.2309A>G (p.Glu770Gly) rs149668719
NM_198428.3(BBS9):c.2365A>G (p.Lys789Glu)
NM_198428.3(BBS9):c.2381A>G (p.Asn794Ser)
NM_198428.3(BBS9):c.2403A>G (p.Ile801Met) rs137993290
NM_198428.3(BBS9):c.2434A>T (p.Ile812Phe)
NM_198428.3(BBS9):c.2468G>A (p.Gly823Asp)
NM_198428.3(BBS9):c.2488G>A (p.Asp830Asn) rs368704638
NM_198428.3(BBS9):c.2581A>T (p.Thr861Ser)
NM_198428.3(BBS9):c.2591T>G (p.Phe864Cys)
NM_198428.3(BBS9):c.2593A>G (p.Thr865Ala) rs143963391
NM_198428.3(BBS9):c.2623C>T (p.Pro875Ser)
NM_198428.3(BBS9):c.2632G>T (p.Glu878Ter) rs150826095
NM_198428.3(BBS9):c.2633-2A>G
NM_198428.3(BBS9):c.2633-3C>G
NM_198428.3(BBS9):c.2653G>T (p.Val885Phe)
NM_198428.3(BBS9):c.2654T>C (p.Val885Ala)
NM_198428.3(BBS9):c.341A>G (p.Asn114Ser)
NM_198428.3(BBS9):c.396G>C (p.Gln132His)
NM_198428.3(BBS9):c.410A>G (p.Asn137Ser)
NM_198428.3(BBS9):c.485T>C (p.Met162Thr)
NM_198428.3(BBS9):c.565C>T (p.Arg189Cys)
NM_198428.3(BBS9):c.58T>G (p.Phe20Val) rs779638896
NM_198428.3(BBS9):c.660_674del (p.Glu221_Gln225del)
NM_198428.3(BBS9):c.677A>C (p.Lys226Thr)
NM_198428.3(BBS9):c.688G>A (p.Gly230Arg)
NM_198428.3(BBS9):c.742A>C (p.Ile248Leu)
NM_198428.3(BBS9):c.761A>G (p.Asn254Ser)
NM_198428.3(BBS9):c.767C>T (p.Ser256Leu) rs149790873
NM_198428.3(BBS9):c.778G>T (p.Val260Phe)
NM_198428.3(BBS9):c.802T>A (p.Phe268Ile)
NM_198428.3(BBS9):c.818A>G (p.Asp273Gly) rs1264926096
NM_198428.3(BBS9):c.83C>T (p.Ala28Val)
NM_198428.3(BBS9):c.928A>G (p.Asn310Asp)
NM_198428.3(BBS9):c.974A>G (p.Gln325Arg)

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