ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 9

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ClinVar version:
Total variants: 105
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HGVS dbSNP
NM_014451.3(BBS9):c.(443-1675_443-1116)_(618-986_618-508)del
NM_198428.3(BBS9):c.*103T>C rs1050719
NM_198428.3(BBS9):c.*110C>T rs1050721
NM_198428.3(BBS9):c.*12T>C
NM_198428.3(BBS9):c.*138A>C rs59454255
NM_198428.3(BBS9):c.*29A>G rs373446119
NM_198428.3(BBS9):c.*323A>G
NM_198428.3(BBS9):c.*336A>G rs578208457
NM_198428.3(BBS9):c.*337C>T
NM_198428.3(BBS9):c.*371G>A rs79271934
NM_198428.3(BBS9):c.*406A>G
NM_198428.3(BBS9):c.*444G>A rs75625812
NM_198428.3(BBS9):c.*453C>G rs74748415
NM_198428.3(BBS9):c.*549A>G rs73690947
NM_198428.3(BBS9):c.*585C>T
NM_198428.3(BBS9):c.*589G>A rs548920550
NM_198428.3(BBS9):c.*729C>T
NM_198428.3(BBS9):c.*801G>A
NM_198428.3(BBS9):c.-12+7T>C rs1468797
NM_198428.3(BBS9):c.-163G>C rs886062281
NM_198428.3(BBS9):c.-206T>G
NM_198428.3(BBS9):c.-228T>G rs771734972
NM_198428.3(BBS9):c.-259G>A rs73095326
NM_198428.3(BBS9):c.-271G>A rs886062280
NM_198428.3(BBS9):c.-305T>G rs112060099
NM_198428.3(BBS9):c.-397G>A rs561901329
NM_198428.3(BBS9):c.-407C>G rs3750123
NM_198428.3(BBS9):c.-408T>G rs886062279
NM_198428.3(BBS9):c.-429G>C rs184271281
NM_198428.3(BBS9):c.-447A>C rs886062278
NM_198428.3(BBS9):c.-456G>A rs886062277
NM_198428.3(BBS9):c.1017-6T>C rs61756571
NM_198428.3(BBS9):c.1029A>G (p.Gly343=) rs35195153
NM_198428.3(BBS9):c.104_112+4del rs869025208
NM_198428.3(BBS9):c.1052A>T (p.Asp351Val)
NM_198428.3(BBS9):c.1063C>T (p.Gln355Ter) rs137852858
NM_198428.3(BBS9):c.1110C>T (p.Asn370=) rs61753524
NM_198428.3(BBS9):c.1130A>G (p.Asn377Ser) rs886062285
NM_198428.3(BBS9):c.1210A>G (p.Met404Val)
NM_198428.3(BBS9):c.1236C>T (p.Asn412=)
NM_198428.3(BBS9):c.1245C>T (p.Val415=) rs61764066
NM_198428.3(BBS9):c.1246G>A (p.Val416Met) rs61764067
NM_198428.3(BBS9):c.1275+13G>T rs11981364
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val) rs138072724
NM_198428.3(BBS9):c.1284C>T (p.Thr428=) rs6964382
NM_198428.3(BBS9):c.1329+1606C>T rs6974593
NM_198428.3(BBS9):c.1329+5T>C
NM_198428.3(BBS9):c.1363G>A (p.Ala455Thr) rs11773504
NM_198428.3(BBS9):c.1535C>T (p.Thr512Ile) rs886062286
NM_198428.3(BBS9):c.1537+14C>T
NM_198428.3(BBS9):c.1538-9G>T rs770317221
NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr) rs73688160
NM_198428.3(BBS9):c.1553-11T>C rs756802547
NM_198428.3(BBS9):c.1562G>A (p.Arg521Gln) rs34218557
NM_198428.3(BBS9):c.1604G>A (p.Cys535Tyr) rs1326810030
NM_198428.3(BBS9):c.1606C>T (p.Leu536=) rs576401162
NM_198428.3(BBS9):c.1611A>C (p.Pro537=)
NM_198428.3(BBS9):c.1645A>G (p.Thr549Ala)
NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile) rs59252892
NM_198428.3(BBS9):c.1694-6T>C rs28622379
NM_198428.3(BBS9):c.1759C>T (p.Arg587Ter) rs746797123
NM_198428.3(BBS9):c.1760G>A (p.Arg587Gln)
NM_198428.3(BBS9):c.1789+1G>A rs201938124
NM_198428.3(BBS9):c.1792C>T (p.Arg598Ter) rs137852856
NM_198428.3(BBS9):c.1812del (p.Glu604fs) rs1229015450
NM_198428.3(BBS9):c.1849A>C (p.Ile617Leu) rs34209904
NM_198428.3(BBS9):c.1870_1872del (p.Phe624del)
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs) rs606231137
NM_198428.3(BBS9):c.1897G>A (p.Ala633Thr)
NM_198428.3(BBS9):c.1910C>T (p.Ser637Leu) rs771777721
NM_198428.3(BBS9):c.1923C>A (p.Pro641=) rs886062287
NM_198428.3(BBS9):c.195C>T (p.Ala65=) rs373063776
NM_198428.3(BBS9):c.2032C>T (p.Arg678Cys)
NM_198428.3(BBS9):c.2044G>A (p.Ala682Thr)
NM_198428.3(BBS9):c.2045dup (p.Arg683fs) rs587777810
NM_198428.3(BBS9):c.2070C>G (p.Ala690=) rs200515072
NM_198428.3(BBS9):c.2086G>A (p.Asp696Asn) rs117543061
NM_198428.3(BBS9):c.2211G>A (p.Leu737=)
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val) rs116483694
NM_198428.3(BBS9):c.2220G>A (p.Leu740=) rs115809567
NM_198428.3(BBS9):c.2258A>T (p.Glu753Val) rs61764068
NM_198428.3(BBS9):c.2273C>T (p.Pro758Leu)
NM_198428.3(BBS9):c.2309A>G (p.Glu770Gly) rs149668719
NM_198428.3(BBS9):c.2363C>T (p.Ser788Phe) rs61753526
NM_198428.3(BBS9):c.2404C>T (p.Pro802Ser) rs886062288
NM_198428.3(BBS9):c.2460C>T (p.Ser820=) rs142563811
NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys) rs146752751
NM_198428.3(BBS9):c.2488G>A (p.Asp830Asn) rs368704638
NM_198428.3(BBS9):c.2509A>G (p.Met837Val)
NM_198428.3(BBS9):c.2538C>T (p.Ile846=) rs376692708
NM_198428.3(BBS9):c.2593A>G (p.Thr865Ala) rs143963391
NM_198428.3(BBS9):c.2646C>A (p.Leu882=) rs61753527
NM_198428.3(BBS9):c.272A>T (p.Glu91Val) rs886062283
NM_198428.3(BBS9):c.34A>G (p.Thr12Ala) rs4498440
NM_198428.3(BBS9):c.385C>T (p.His129Tyr) rs886062284
NM_198428.3(BBS9):c.421G>A (p.Gly141Arg) rs137852857
NM_198428.3(BBS9):c.442+1G>C rs587777811
NM_198428.3(BBS9):c.445C>T (p.Arg149Ter) rs781174906
NM_198428.3(BBS9):c.555C>T (p.Ala185=) rs35440033
NM_198428.3(BBS9):c.678A>G (p.Lys226=) rs201231133
NM_198428.3(BBS9):c.715C>T (p.Leu239=)
NM_198428.3(BBS9):c.736C>T (p.Leu246Phe) rs140821420
NM_198428.3(BBS9):c.785T>C (p.Val262Ala) rs886039875
NM_198428.3(BBS9):c.938A>G (p.His313Arg)
NM_198428.3(BBS9):c.974A>G (p.Gln325Arg)

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