ClinVar Miner

List of variants in gene BBS7 reported as pathogenic for Bardet-Biedl syndrome

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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_176824.3(BBS7):c.968A>G (p.His323Arg) rs119466001 0.00010
NM_176824.3(BBS7):c.632C>T (p.Thr211Ile) rs119466002 0.00006
NM_176824.3(BBS7):c.187G>A (p.Gly63Arg) rs754579374 0.00004
NM_176824.3(BBS7):c.601+3A>G rs747555346 0.00004
NM_176824.3(BBS7):c.1654dup (p.Thr552fs) rs773052355 0.00003
NM_176824.3(BBS7):c.1458C>G (p.Tyr486Ter) rs1470030897 0.00001
NM_176824.3(BBS7):c.728G>A (p.Cys243Tyr) rs727503821 0.00001
NM_176824.3(BBS7):c.838C>T (p.Arg280Ter) rs151275562 0.00001
NM_176824.3(BBS7):c.849+1G>C rs763719688 0.00001
NM_176824.3(BBS7):c.878A>C (p.Gln293Pro) rs889417696 0.00001
NC_000004.11:g.(?_122747015)_(122749903_?)del
NC_000004.11:g.(?_122749281)_(122756458_?)del
NC_000004.11:g.(?_122760766)_(122770103_?)del
NC_000004.11:g.(?_122765575)_(122770074_?)del
NC_000004.11:g.(?_122766639)_(122766871_?)del
NC_000004.11:g.(?_122774091)_(122775995_?)del
NC_000004.11:g.(?_122789116)_(122791468_?)del
NM_176824.3(BBS7):c.1002del (p.Asn335fs) rs762782183
NM_176824.3(BBS7):c.1042G>T (p.Glu348Ter)
NM_176824.3(BBS7):c.1062_1063del (p.Tyr354_Lys355delinsTer) rs773139166
NM_176824.3(BBS7):c.1083_1084del (p.Asn362fs) rs577434138
NM_176824.3(BBS7):c.1093_1094del (p.Gln365fs) rs2149068932
NM_176824.3(BBS7):c.1250del (p.Leu417fs) rs2149066862
NM_176824.3(BBS7):c.133dup (p.Met45fs)
NM_176824.3(BBS7):c.1378del (p.Ser460fs)
NM_176824.3(BBS7):c.1413T>A (p.Tyr471Ter) rs991365297
NM_176824.3(BBS7):c.1453C>T (p.Gln485Ter)
NM_176824.3(BBS7):c.1458C>A (p.Tyr486Ter) rs1470030897
NM_176824.3(BBS7):c.1497dup (p.Ile500fs)
NM_176824.3(BBS7):c.149dup (p.Lys51fs)
NM_176824.3(BBS7):c.1510A>T (p.Arg504Ter) rs1725385758
NM_176824.3(BBS7):c.1592_1597del (p.Val531_Pro532del) rs587777836
NM_176824.3(BBS7):c.1657C>T (p.Gln553Ter) rs1394015094
NM_176824.3(BBS7):c.1659del (p.Gln553fs)
NM_176824.3(BBS7):c.1663G>T (p.Glu555Ter) rs2149054103
NM_176824.3(BBS7):c.1668_1669delinsAT (p.Ser556_Thr557delinsArgSer)
NM_176824.3(BBS7):c.1677-2A>G
NM_176824.3(BBS7):c.1712_1713delinsAGA (p.Ser571Ter) rs878853352
NM_176824.3(BBS7):c.173dup (p.Lys59fs)
NM_176824.3(BBS7):c.1846C>T (p.Gln616Ter)
NM_176824.3(BBS7):c.1891-1G>A rs2149048173
NM_176824.3(BBS7):c.1897C>T (p.Gln633Ter)
NM_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs) rs672601379
NM_176824.3(BBS7):c.1986_1988delinsT (p.Lys662fs) rs863224529
NM_176824.3(BBS7):c.386dup (p.Tyr129Ter)
NM_176824.3(BBS7):c.389_390del (p.Asn130fs) rs863224530
NM_176824.3(BBS7):c.399dup (p.Asp134Ter)
NM_176824.3(BBS7):c.423C>A (p.Tyr141Ter)
NM_176824.3(BBS7):c.488del (p.Pro163fs) rs2149084861
NM_176824.3(BBS7):c.497C>T (p.Ala166Val) rs1341540567
NM_176824.3(BBS7):c.502C>T (p.Gln168Ter)
NM_176824.3(BBS7):c.529-1dup rs1726566546
NM_176824.3(BBS7):c.542_543insAA (p.Met181fs) rs1553933472
NM_176824.3(BBS7):c.569dup (p.Thr191fs)
NM_176824.3(BBS7):c.580_582del (p.Ala194del)
NM_176824.3(BBS7):c.585dup (p.His196fs)
NM_176824.3(BBS7):c.613_614del (p.Glu205fs)
NM_176824.3(BBS7):c.688T>C (p.Trp230Arg)
NM_176824.3(BBS7):c.68_77del (p.Leu23fs)
NM_176824.3(BBS7):c.690G>A (p.Trp230Ter)
NM_176824.3(BBS7):c.712_715del (p.Arg238fs) rs760165634
NM_176824.3(BBS7):c.719G>T (p.Gly240Val)
NM_176824.3(BBS7):c.725dup (p.Leu242fs)
NM_176824.3(BBS7):c.72del (p.Pro25fs)
NM_176824.3(BBS7):c.763A>T (p.Lys255Ter) rs1560658189
NM_176824.3(BBS7):c.785_786del (p.Asp262fs)
NM_176824.3(BBS7):c.87_88del (p.His29fs) rs1578577361
NM_176824.3(BBS7):c.90_91del (p.Arg30fs)

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