ClinVar Miner

List of variants reported as pathogenic for Bardet-Biedl syndrome 9

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_014451.3(BBS9):c.(443-1675_443-1116)_(618-986_618-508)del
NM_198428.2(BBS9):c.102_112+2delAAATGGACAAGGT rs869025208
NM_198428.3(BBS9):c.1063C>T (p.Gln355Ter) rs137852858
NM_198428.3(BBS9):c.1759C>T (p.Arg587Ter) rs746797123
NM_198428.3(BBS9):c.1789+1G>A rs201938124
NM_198428.3(BBS9):c.1792C>T (p.Arg598Ter) rs137852856
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs) rs606231137
NM_198428.3(BBS9):c.2045dup (p.Arg683fs) rs587777810
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

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