ClinVar Miner

List of variants in gene BBS4 reported as uncertain significance for Bardet-Biedl syndrome

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Total variants: 38
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HGVS dbSNP
NC_000015.10:g.(?_72676034)_(72704515_?)dup
NM_033028.5(BBS4):c.*855_*856del rs748809330
NM_033028.5(BBS4):c.1013G>T (p.Gly338Val)
NM_033028.5(BBS4):c.1084G>A (p.Ala362Thr)
NM_033028.5(BBS4):c.1107G>A (p.Lys369=)
NM_033028.5(BBS4):c.1161GAA[2] (p.Lys389del)
NM_033028.5(BBS4):c.1200G>C (p.Lys400Asn)
NM_033028.5(BBS4):c.1223A>G (p.Asn408Ser)
NM_033028.5(BBS4):c.1248+4T>C
NM_033028.5(BBS4):c.1322A>C (p.Lys441Thr)
NM_033028.5(BBS4):c.1325A>G (p.Asp442Gly)
NM_033028.5(BBS4):c.1348A>C (p.Thr450Pro) rs749034070
NM_033028.5(BBS4):c.134G>A (p.Arg45Gln)
NM_033028.5(BBS4):c.1369A>G (p.Ser457Gly)
NM_033028.5(BBS4):c.1439C>T (p.Thr480Met)
NM_033028.5(BBS4):c.1451-6dup rs770389663
NM_033028.5(BBS4):c.1511C>T (p.Ala504Val)
NM_033028.5(BBS4):c.1541_1551del (p.Glu514fs)
NM_033028.5(BBS4):c.1556A>G (p.Lys519Arg)
NM_033028.5(BBS4):c.232C>T (p.Arg78Cys) rs145168232
NM_033028.5(BBS4):c.248T>G (p.Ile83Ser)
NM_033028.5(BBS4):c.289A>C (p.Ser97Arg)
NM_033028.5(BBS4):c.329C>G (p.Ser110Cys)
NM_033028.5(BBS4):c.337C>T (p.Leu113Phe)
NM_033028.5(BBS4):c.379G>A (p.Ala127Thr)
NM_033028.5(BBS4):c.405+6T>C
NM_033028.5(BBS4):c.461C>T (p.Ala154Val)
NM_033028.5(BBS4):c.463C>A (p.Gln155Lys)
NM_033028.5(BBS4):c.469C>G (p.Gln157Glu) rs1177848403
NM_033028.5(BBS4):c.502G>A (p.Asp168Asn)
NM_033028.5(BBS4):c.514A>G (p.Ile172Val) rs145265395
NM_033028.5(BBS4):c.572A>G (p.Tyr191Cys)
NM_033028.5(BBS4):c.64C>T (p.Arg22Trp) rs727503820
NM_033028.5(BBS4):c.752A>G (p.Asp251Gly) rs148843256
NM_033028.5(BBS4):c.80C>T (p.Pro27Leu)
NM_033028.5(BBS4):c.923A>G (p.Tyr308Cys)
NM_033028.5(BBS4):c.926A>C (p.Asn309Thr)
NM_033028.5(BBS4):c.994A>G (p.Asn332Asp)

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