ClinVar Miner

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

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Gene type:
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Total variants: 75
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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.688T>C (p.Trp230Arg) rs1173134997 0.00003
NM_176824.3(BBS7):c.133dup (p.Met45fs) rs777707753 0.00002
NM_176824.3(BBS7):c.1510A>T (p.Arg504Ter) rs1725385758 0.00002
NM_176824.3(BBS7):c.1458C>G (p.Tyr486Ter) rs1470030897 0.00001
NM_176824.3(BBS7):c.1890+6T>C rs1553930514 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) rs2476496988
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.1378del (p.Ser460fs) rs2476457200
NM_176824.3(BBS7):c.1413T>A (p.Tyr471Ter) rs991365297
NM_176824.3(BBS7):c.1453C>T (p.Gln485Ter) rs2476456347
NM_176824.3(BBS7):c.1458C>A (p.Tyr486Ter) rs1470030897
NM_176824.3(BBS7):c.1497dup (p.Ile500fs) rs2476455936
NM_176824.3(BBS7):c.149dup (p.Lys51fs) rs2476584179
NM_176824.3(BBS7):c.1531dup (p.Leu511fs)
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) rs1191668967
NM_176824.3(BBS7):c.1663G>T (p.Glu555Ter) rs2149054103
NM_176824.3(BBS7):c.1668_1669delinsAT (p.Ser556_Thr557delinsArgSer) rs2476445162
NM_176824.3(BBS7):c.1677-2A>G rs1253789424
NM_176824.3(BBS7):c.1712_1713delinsAGA (p.Ser571Ter) rs878853352
NM_176824.3(BBS7):c.173dup (p.Lys59fs) rs2476567100
NM_176824.3(BBS7):c.181_182del (p.Leu61fs)
NM_176824.3(BBS7):c.1846C>T (p.Gln616Ter) rs1725011800
NM_176824.3(BBS7):c.1891-1G>A rs2149048173
NM_176824.3(BBS7):c.1891-2A>C rs1057519027
NM_176824.3(BBS7):c.1891G>T (p.Glu631Ter)
NM_176824.3(BBS7):c.1897C>T (p.Gln633Ter) rs2476801952
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.342-2A>G rs1560664459
NM_176824.3(BBS7):c.386dup (p.Tyr129Ter) rs2476548951
NM_176824.3(BBS7):c.389_390del (p.Asn130fs) rs863224530
NM_176824.3(BBS7):c.399dup (p.Asp134Ter) rs2476548784
NM_176824.3(BBS7):c.423C>A (p.Tyr141Ter) rs2476548653
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) rs1385873554
NM_176824.3(BBS7):c.526C>T (p.Gln176Ter) rs2149084783
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) rs2476534000
NM_176824.3(BBS7):c.580_582del (p.Ala194del) rs2476533846
NM_176824.3(BBS7):c.585dup (p.His196fs) rs2476533813
NM_176824.3(BBS7):c.613_614del (p.Glu205fs) rs1258851646
NM_176824.3(BBS7):c.68_77del (p.Leu23fs) rs2476633959
NM_176824.3(BBS7):c.690G>A (p.Trp230Ter) rs377194859
NM_176824.3(BBS7):c.712_715del (p.Arg238fs) rs760165634
NM_176824.3(BBS7):c.719G>T (p.Gly240Val) rs761403504
NM_176824.3(BBS7):c.725dup (p.Leu242fs) rs2476523755
NM_176824.3(BBS7):c.72del (p.Pro25fs) rs1727380246
NM_176824.3(BBS7):c.763A>T (p.Lys255Ter) rs1560658189
NM_176824.3(BBS7):c.785_786del (p.Asp262fs) rs2476523240
NM_176824.3(BBS7):c.87_88del (p.His29fs) rs1578577361
NM_176824.3(BBS7):c.90_91del (p.Arg30fs) rs1291044978

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