ClinVar Miner

List of variants reported as pathogenic for Bardet-Biedl syndrome 1 by Baylor Genetics

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) rs121917777 0.00012
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr) rs200116631 0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_024649.5(BBS1):c.118del (p.Cys40fs) rs1490351829 0.00001
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter) rs1014835928 0.00001
NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter) rs745656125 0.00001
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs) rs775769424 0.00001
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) rs786204444 0.00001
NM_024649.5(BBS1):c.851del (p.Tyr284fs) rs587777830 0.00001
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.1340-1G>T rs1555049893
NM_024649.5(BBS1):c.1643dup (p.Glu549fs) rs773632109
NM_024649.5(BBS1):c.1708C>T (p.Arg570Ter) rs1434577015
NM_024649.5(BBS1):c.217G>T (p.Gly73Ter) rs1012901050
NM_024649.5(BBS1):c.223_224del (p.Leu75fs) rs1057516451
NM_024649.5(BBS1):c.382C>T (p.Gln128Ter) rs2134771570
NM_024649.5(BBS1):c.432+1G>A rs587777829
NM_024649.5(BBS1):c.48-1G>A rs751753112
NM_024649.5(BBS1):c.480-1G>C rs1057516933
NM_024649.5(BBS1):c.607del (p.Thr202_Met203insTer) rs2134780429
NM_024649.5(BBS1):c.68G>A (p.Trp23Ter) rs778850233
NM_024649.5(BBS1):c.871C>T (p.Gln291Ter) rs1057517143
NM_024649.5(BBS1):c.951+1G>A rs746875134
NM_024649.5(BBS1):c.951+1G>T rs746875134
NM_024649.5(BBS1):c.951+58C>T rs1856346961
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818

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