ClinVar Miner

List of variants in gene BBS2 reported as likely pathogenic for Bardet-Biedl syndrome 2

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Gene type:
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Total variants: 125
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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.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.118G>T (p.Val40Phe) rs886043059 0.00002
NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter) rs762047808 0.00002
NM_031885.5(BBS2):c.1894C>T (p.Arg632Cys) rs200021475 0.00002
NM_031885.5(BBS2):c.1112del (p.Asp371fs) rs1472488128 0.00001
NM_031885.5(BBS2):c.1225+2T>C rs1279981768 0.00001
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter) rs778090540 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.224T>G (p.Val75Gly) rs121908174 0.00001
NM_031885.5(BBS2):c.241G>T (p.Gly81Cys) rs750506474 0.00001
NM_031885.5(BBS2):c.346-1G>C rs753845990 0.00001
NM_031885.5(BBS2):c.406dup (p.Ala136fs) rs756003832 0.00001
NM_031885.5(BBS2):c.471G>A (p.Thr157=) rs749983428 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.653G>A (p.Gly218Asp) rs1375309270 0.00001
NM_031885.5(BBS2):c.717+1G>A rs1047075022 0.00001
NM_031885.5(BBS2):c.940+1del rs746171104 0.00001
NM_031885.5(BBS2):c.98C>A (p.Ala33Asp) rs797045155 0.00001
NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter) rs193922710
NM_031885.5(BBS2):c.1027C>T (p.Gln343Ter) rs1337345059
NM_031885.5(BBS2):c.1066G>T (p.Glu356Ter) rs1192804794
NM_031885.5(BBS2):c.1081-1G>T rs1555522000
NM_031885.5(BBS2):c.1088T>A (p.Leu363Ter) rs2543709618
NM_031885.5(BBS2):c.1099dup (p.Leu367fs) rs797044632
NM_031885.5(BBS2):c.1163C>G (p.Ser388Ter) rs745820842
NM_031885.5(BBS2):c.1166_1169del (p.Val389fs) rs1964269329
NM_031885.5(BBS2):c.118-2A>C rs2543742094
NM_031885.5(BBS2):c.118-2A>G rs2543742094
NM_031885.5(BBS2):c.1225+2T>G rs1279981768
NM_031885.5(BBS2):c.1225+2dup rs1567575193
NM_031885.5(BBS2):c.1245_1261del (p.Leu416fs) rs2543707890
NM_031885.5(BBS2):c.1260_1262delinsTGTGTAT (p.Glu420fs) rs2543707875
NM_031885.5(BBS2):c.1269del (p.Phe423fs) rs2543707834
NM_031885.5(BBS2):c.1273_1274insAACTGGAGAGGTT (p.Gly425fs) rs2543707814
NM_031885.5(BBS2):c.1290dup (p.His431fs) rs777420525
NM_031885.5(BBS2):c.1310_1344del (p.Leu437fs) rs2543707585
NM_031885.5(BBS2):c.1313_1314insT (p.Ser439fs) rs2543707684
NM_031885.5(BBS2):c.1353_1354insTCAGTTTTGTCATCTTT (p.Pro452fs) rs2543707534
NM_031885.5(BBS2):c.1355del (p.Pro452fs) rs2543707528
NM_031885.5(BBS2):c.1397+2T>C rs779506379
NM_031885.5(BBS2):c.1402C>T (p.Gln468Ter) rs1791390525
NM_031885.5(BBS2):c.1453_1456dup (p.Leu486fs) rs2543704434
NM_031885.5(BBS2):c.1461del (p.Ser488fs) rs2543704416
NM_031885.5(BBS2):c.1502_1503del (p.Phe501fs) rs2543704303
NM_031885.5(BBS2):c.1527+1G>A rs2144138948
NM_031885.5(BBS2):c.1544del (p.Gly515fs) rs2144134987
NM_031885.5(BBS2):c.157del (p.Ser53fs) rs2543741926
NM_031885.5(BBS2):c.1594C>T (p.Gln532Ter) rs2144134780
NM_031885.5(BBS2):c.1654_1655insCT (p.Gly552fs) rs2543700164
NM_031885.5(BBS2):c.1700del (p.Ile567fs) rs2543698536
NM_031885.5(BBS2):c.1725del (p.Phe575fs) rs2144132609
NM_031885.5(BBS2):c.1725dup (p.Ala576fs) rs2144132609
NM_031885.5(BBS2):c.1747G>T (p.Glu583Ter) rs2543698377
NM_031885.5(BBS2):c.1762_1765del (p.Val588fs) rs1964155109
NM_031885.5(BBS2):c.1778T>A (p.Leu593Ter) rs1964154734
NM_031885.5(BBS2):c.1794dup (p.Lys599Ter) rs2543698183
NM_031885.5(BBS2):c.1795_1796del (p.Lys599fs) rs2543698172
NM_031885.5(BBS2):c.1797+1G>A rs1555521489
NM_031885.5(BBS2):c.1843dup (p.Ala615fs) rs1199538371
NM_031885.5(BBS2):c.184dup (p.Leu62fs) rs1281259093
NM_031885.5(BBS2):c.1909_1910del (p.Met637fs) rs1555521379
NM_031885.5(BBS2):c.1910+1G>A rs757391646
NM_031885.5(BBS2):c.1911-1G>A rs1555520256
NM_031885.5(BBS2):c.1931dup (p.Tyr644Ter) rs1963758780
NM_031885.5(BBS2):c.1944T>A (p.Tyr648Ter) rs1014315603
NM_031885.5(BBS2):c.1969G>T (p.Gly657Ter) rs1166717771
NM_031885.5(BBS2):c.2038C>T (p.Gln680Ter) rs1555520220
NM_031885.5(BBS2):c.2059+1del rs1457486459
NM_031885.5(BBS2):c.2060-1G>T rs1555520142
NM_031885.5(BBS2):c.2077del (p.Gln693fs) rs2543670448
NM_031885.5(BBS2):c.217C>T (p.Gln73Ter) rs199940492
NM_031885.5(BBS2):c.255del (p.Glu86fs) rs2144193104
NM_031885.5(BBS2):c.278T>A (p.Leu93Ter) rs2543741373
NM_031885.5(BBS2):c.284_285del (p.Gly95fs) rs2543741333
NM_031885.5(BBS2):c.289C>T (p.Gln97Ter) rs1964676925
NM_031885.5(BBS2):c.302T>A (p.Leu101Ter) rs1964676419
NM_031885.5(BBS2):c.309_310insCACA (p.Asp104fs) rs2543741194
NM_031885.5(BBS2):c.324_343del (p.Asn108fs) rs1555523964
NM_031885.5(BBS2):c.326C>A (p.Ser109Ter) rs181736797
NM_031885.5(BBS2):c.343G>T (p.Glu115Ter) rs1964674209
NM_031885.5(BBS2):c.361_367delinsTTATGCAG (p.Asn121fs) rs2543733652
NM_031885.5(BBS2):c.365del (p.Ala122fs) rs1964569500
NM_031885.5(BBS2):c.421_423del (p.Asn141del) rs2543733379
NM_031885.5(BBS2):c.437del (p.Gly146fs) rs1170844318
NM_031885.5(BBS2):c.440del (p.Phe147fs) rs1433422530
NM_031885.5(BBS2):c.471+1G>A rs1555523584
NM_031885.5(BBS2):c.491_501del (p.Asn164fs) rs2543732310
NM_031885.5(BBS2):c.497T>A (p.Leu166Ter) rs1964558577
NM_031885.5(BBS2):c.509A>G (p.Asp170Gly)
NM_031885.5(BBS2):c.534+2T>C rs2543732096
NM_031885.5(BBS2):c.535-1G>A rs2144177127
NM_031885.5(BBS2):c.559dup (p.Asp187fs) rs2543729743
NM_031885.5(BBS2):c.55del (p.Val19fs) rs1555524593
NM_031885.5(BBS2):c.583G>T (p.Glu195Ter) rs1964531867
NM_031885.5(BBS2):c.619_620del (p.Thr207fs) rs2543721525
NM_031885.5(BBS2):c.627_628del (p.Cys210fs) rs773417074
NM_031885.5(BBS2):c.650T>G (p.Phe217Cys) rs2543721403
NM_031885.5(BBS2):c.661del (p.Leu221fs) rs770258677
NM_031885.5(BBS2):c.691A>T (p.Lys231Ter) rs754487754
NM_031885.5(BBS2):c.717+2T>G rs1555522893
NM_031885.5(BBS2):c.718-2A>C rs1964413705
NM_031885.5(BBS2):c.721A>T (p.Lys241Ter) rs1964413369
NM_031885.5(BBS2):c.766G>T (p.Gly256Ter) rs886052147
NM_031885.5(BBS2):c.784dup (p.Thr262fs) rs2543720613
NM_031885.5(BBS2):c.791G>A (p.Trp264Ter) rs767449884
NM_031885.5(BBS2):c.802A>T (p.Lys268Ter) rs2543720549
NM_031885.5(BBS2):c.856del (p.Ser286fs) rs2543714143
NM_031885.5(BBS2):c.918_919dup (p.Cys307fs) rs1555522252
NM_031885.5(BBS2):c.940+1G>A rs2543713728
NM_031885.5(BBS2):c.941-1G>A rs777234811
NM_031885.5(BBS2):c.941-1G>T rs777234811
NM_031885.5(BBS2):c.941-2A>C rs878962682
NM_031885.5(BBS2):c.941-2A>G rs878962682
NM_031885.5(BBS2):c.975_985del (p.Arg325fs) rs2543712812

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