ClinVar Miner

List of variants studied for Bardet-Biedl syndrome by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_152384.3(BBS5):c.214G>A (p.Gly72Ser) rs121908581 0.00001
NM_170784.3(MKKS):c.837del (p.Gly280fs) rs776004321 0.00001
NM_170784.3(MKKS):c.890T>C (p.Ile297Thr) rs147704542 0.00001
NM_024649.5(BBS1):c.1110+3G>C rs762276925
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_033028.5(BBS4):c.1106+2T>A rs886041464

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