ClinVar Miner

List of variants studied for Bardet-Biedl syndrome by Sharon lab,Hadassah-Hebrew University Medical Center

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Total variants: 13
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HGVS dbSNP
NC_000015.10:g.72708224_72722485del
NM_001165927.1(MKS1):c.1319T>C (p.Ile440Thr) rs200865108
NM_001165927.1(MKS1):c.1358G>A (p.Arg453Gln) rs201619500
NM_001278293.3(ARL6):c.364C>T (p.Arg122Ter) rs104893678
NM_024649.5(BBS1):c.767del (p.Gln256fs) rs1590762360
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_031885.4(BBS2):c.224T>G (p.Val75Gly) rs121908174
NM_033028.5(BBS4):c.424G>A (p.Gly142Arg) rs1595935759
NM_033028.5(BBS4):c.884G>C (p.Arg295Pro) rs121434632
NM_152384.3(BBS5):c.619-1G>C rs753234582
NM_176824.3(BBS7):c.1786G>A (p.Glu596Lys) rs1233058112
NM_176824.3(BBS7):c.85_86CA[1] (p.His29fs) rs1578577361
NM_198428.3(BBS9):c.1063C>T (p.Gln355Ter) rs137852858

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