ClinVar Miner

List of variants in gene BBS2 reported as pathogenic for Bardet-Biedl syndrome

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Gene type:
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Total variants: 116
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HGVS dbSNP gnomAD frequency
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro) rs138043021 0.00010
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter) rs121908177 0.00010
NM_031885.5(BBS2):c.534+1G>T rs773862084 0.00004
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter) rs147030232 0.00003
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala) rs121908179 0.00003
NM_031885.5(BBS2):c.401C>G (p.Pro134Arg) rs376306240 0.00003
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter) rs121908175 0.00003
NM_031885.5(BBS2):c.943C>T (p.Arg315Trp) rs121908178 0.00003
NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter) rs762047808 0.00002
NM_031885.5(BBS2):c.814C>T (p.Arg272Ter) rs764164384 0.00002
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter) rs778090540 0.00001
NM_031885.5(BBS2):c.175C>T (p.Gln59Ter) rs121908176 0.00001
NM_031885.5(BBS2):c.1814C>G (p.Ser605Ter) rs201063733 0.00001
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter) rs201196733 0.00001
NM_031885.5(BBS2):c.1946_1952del (p.Asp649fs) rs745951028 0.00001
NM_031885.5(BBS2):c.1986dup (p.Asn663Ter) rs1597001788 0.00001
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter) rs567573386 0.00001
NM_031885.5(BBS2):c.241G>T (p.Gly81Cys) rs750506474 0.00001
NM_031885.5(BBS2):c.504del (p.Leu168fs) rs1224014742 0.00001
NM_031885.5(BBS2):c.522T>A (p.Asp174Glu) rs767373822 0.00001
NM_031885.5(BBS2):c.563del (p.Ile188fs) rs1367927635 0.00001
NM_031885.5(BBS2):c.565C>T (p.Arg189Ter) rs1273181642 0.00001
NM_031885.5(BBS2):c.646C>T (p.Arg216Ter) rs121908180 0.00001
NM_031885.5(BBS2):c.700C>T (p.Arg234Ter) rs779690256 0.00001
NM_031885.5(BBS2):c.717+1G>A rs1047075022 0.00001
NM_031885.5(BBS2):c.98C>A (p.Ala33Asp) rs797045155 0.00001
NC_000016.9:g.(56519651_56530879)_(56536720_56539861)del
NC_000016.9:g.(?_56518653)_(56545216_?)del
NC_000016.9:g.(?_56534756)_(56545206_?)del
NC_000016.9:g.(?_56544751)_(56545216_?)del
NC_000016.9:g.(?_56545061)_(56545206_?)del
NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter) rs193922710
NM_031885.5(BBS2):c.1015del (p.Arg339fs)
NM_031885.5(BBS2):c.1062C>G (p.Asn354Lys) rs1567576202
NM_031885.5(BBS2):c.110del (p.Thr37fs) rs2144214319
NM_031885.5(BBS2):c.113del (p.Gly38fs) rs2144214277
NM_031885.5(BBS2):c.1148_1149dup (p.His384fs)
NM_031885.5(BBS2):c.1161del (p.Ser388fs) rs2144145429
NM_031885.5(BBS2):c.1162_1163del (p.Val389fs)
NM_031885.5(BBS2):c.1163C>A (p.Ser388Ter)
NM_031885.5(BBS2):c.1179_1180del (p.Asn393fs)
NM_031885.5(BBS2):c.1206dup (p.Arg403fs) rs1964267396
NM_031885.5(BBS2):c.1218_1219insGTAATGG (p.Ser407fs) rs2144145120
NM_031885.5(BBS2):c.1221_1222insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTCGCATTTCCACTTCT (p.Asn408delinsPhePhePhePhePhePheXaaXaaXaaXaaAlaIleValTyrTer)
NM_031885.5(BBS2):c.1225+1del
NM_031885.5(BBS2):c.1310_1344del (p.Leu437fs)
NM_031885.5(BBS2):c.1346_1347del (p.Lys449fs)
NM_031885.5(BBS2):c.1371del (p.Lys458fs) rs2144143132
NM_031885.5(BBS2):c.1393del (p.Ser465fs)
NM_031885.5(BBS2):c.1465del (p.Leu489fs)
NM_031885.5(BBS2):c.1486_1489del (p.Ile496fs) rs1363846772
NM_031885.5(BBS2):c.1555del (p.Leu519fs)
NM_031885.5(BBS2):c.1572_1575del (p.His525fs) rs2144134877
NM_031885.5(BBS2):c.1649_1650del (p.Leu550fs) rs750146549
NM_031885.5(BBS2):c.1662del (p.Thr555fs)
NM_031885.5(BBS2):c.1662dup (p.Thr555fs) rs2144132870
NM_031885.5(BBS2):c.1705C>T (p.Gln569Ter) rs1555521501
NM_031885.5(BBS2):c.175del (p.Gln59fs) rs2144193544
NM_031885.5(BBS2):c.1762_1765del (p.Val588fs) rs1964155109
NM_031885.5(BBS2):c.1767T>G (p.Tyr589Ter)
NM_031885.5(BBS2):c.1770del (p.Phe590fs) rs193922711
NM_031885.5(BBS2):c.1800_1801insT (p.Asp601Ter)
NM_031885.5(BBS2):c.1808_1809del (p.Tyr603fs) rs1964134678
NM_031885.5(BBS2):c.1811_1821del (p.His604fs)
NM_031885.5(BBS2):c.1822C>T (p.Gln608Ter)
NM_031885.5(BBS2):c.1843dup (p.Ala615fs) rs1199538371
NM_031885.5(BBS2):c.1909_1910del (p.Met637fs) rs1555521379
NM_031885.5(BBS2):c.1922del (p.Lys641fs)
NM_031885.5(BBS2):c.1931dup (p.Tyr644Ter) rs1963758780
NM_031885.5(BBS2):c.1932T>G (p.Tyr644Ter) rs1044072013
NM_031885.5(BBS2):c.1969G>T (p.Gly657Ter) rs1166717771
NM_031885.5(BBS2):c.1974T>G (p.Tyr658Ter) rs895581773
NM_031885.5(BBS2):c.1997_1998del (p.Thr666fs)
NM_031885.5(BBS2):c.2043_2058dup (p.Val687fs) rs1555520212
NM_031885.5(BBS2):c.2059+1G>T rs2144095211
NM_031885.5(BBS2):c.2104_2110del (p.Ile702fs) rs2144093084
NM_031885.5(BBS2):c.212_226del (p.Ile71_Val75del)
NM_031885.5(BBS2):c.224T>G (p.Val75Gly) rs121908174
NM_031885.5(BBS2):c.255del (p.Glu86fs) rs2144193104
NM_031885.5(BBS2):c.256_278dup (p.Val94fs) rs2144193013
NM_031885.5(BBS2):c.307del (p.Tyr103fs)
NM_031885.5(BBS2):c.326C>A (p.Ser109Ter) rs181736797
NM_031885.5(BBS2):c.362del (p.Asn121fs)
NM_031885.5(BBS2):c.402del (p.Ala136fs) rs1368647604
NM_031885.5(BBS2):c.437del (p.Gly146fs) rs1170844318
NM_031885.5(BBS2):c.440del (p.Phe147fs) rs1433422530
NM_031885.5(BBS2):c.466del (p.Trp156fs)
NM_031885.5(BBS2):c.468del (p.Phe155_Trp156insTer)
NM_031885.5(BBS2):c.471+1G>A rs1555523584
NM_031885.5(BBS2):c.471+1G>C rs1555523584
NM_031885.5(BBS2):c.472-2A>G rs137854887
NM_031885.5(BBS2):c.472del rs587777826
NM_031885.5(BBS2):c.497T>A (p.Leu166Ter) rs1964558577
NM_031885.5(BBS2):c.528del (p.Glu178fs)
NM_031885.5(BBS2):c.590_591del (p.Val197fs)
NM_031885.5(BBS2):c.613-1G>C rs2144163316
NM_031885.5(BBS2):c.613-1G>T
NM_031885.5(BBS2):c.627_628del (p.Cys210fs) rs773417074
NM_031885.5(BBS2):c.661del (p.Leu221fs) rs770258677
NM_031885.5(BBS2):c.685dup (p.Tyr229fs)
NM_031885.5(BBS2):c.717+1G>T
NM_031885.5(BBS2):c.717+2T>G rs1555522893
NM_031885.5(BBS2):c.718-2A>C rs1964413705
NM_031885.5(BBS2):c.718-2A>G rs1964413705
NM_031885.5(BBS2):c.774del (p.Asn258fs) rs777218224
NM_031885.5(BBS2):c.775G>T (p.Glu259Ter)
NM_031885.5(BBS2):c.812del (p.Ala271fs)
NM_031885.5(BBS2):c.892del (p.Arg298fs) rs2144150359
NM_031885.5(BBS2):c.89_90dup (p.Leu31fs)
NM_031885.5(BBS2):c.916_919del (p.Ile306fs)
NM_031885.5(BBS2):c.941-1G>C rs777234811
NM_031885.5(BBS2):c.941-1G>T rs777234811
NM_031885.5(BBS2):c.941-2A>C rs878962682
NM_031885.5(BBS2):c.944G>A (p.Arg315Gln) rs544773389
NM_031885.5(BBS2):c.950A>G (p.Tyr317Cys) rs1597016660
NM_031885.5(BBS2):c.973del (p.Arg325fs)

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