ClinVar Miner

List of variants in gene BBS2 studied for not provided

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Total variants: 39
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HGVS dbSNP
NM_031885.4(BBS2):c.*13C>T rs141170836
NM_031885.4(BBS2):c.1081-18G>T rs142558653
NM_031885.4(BBS2):c.1099dup (p.Leu367fs) rs797044632
NM_031885.4(BBS2):c.1110T>C (p.Ala370=) rs148990271
NM_031885.4(BBS2):c.1112del (p.Asp371fs) rs1472488128
NM_031885.4(BBS2):c.1123G>C (p.Gly375Arg) rs1018314879
NM_031885.4(BBS2):c.1161C>T (p.Leu387=) rs71387119
NM_031885.4(BBS2):c.118G>T (p.Val40Phe) rs886043059
NM_031885.4(BBS2):c.1190C>G (p.Thr397Ser) rs368138622
NM_031885.4(BBS2):c.1215C>T (p.Ser405=) rs768053787
NM_031885.4(BBS2):c.1225+10T>C rs1597015665
NM_031885.4(BBS2):c.1284C>T (p.His428=)
NM_031885.4(BBS2):c.1380C>T (p.Phe460=) rs141046144
NM_031885.4(BBS2):c.1470C>T (p.Asp490=) rs370024579
NM_031885.4(BBS2):c.1511C>T (p.Ala504Val) rs16957538
NM_031885.4(BBS2):c.1528-7T>C rs1597013039
NM_031885.4(BBS2):c.1659+3A>G rs6499838
NM_031885.4(BBS2):c.1777T>C (p.Leu593=) rs767778599
NM_031885.4(BBS2):c.1798-8G>T rs370273510
NM_031885.4(BBS2):c.1806A>G (p.Glu602=) rs1597011884
NM_031885.4(BBS2):c.1864C>T (p.Arg622Ter) rs201196733
NM_031885.4(BBS2):c.1890T>C (p.Asp630=) rs1176715641
NM_031885.4(BBS2):c.1895G>C (p.Arg632Pro) rs138043021
NM_031885.4(BBS2):c.1953T>C (p.Asn651=) rs200621431
NM_031885.4(BBS2):c.209= (p.Asn70=) rs4784677
NM_031885.4(BBS2):c.241G>T (p.Gly81Cys) rs750506474
NM_031885.4(BBS2):c.279A>T (p.Leu93Phe) rs886042185
NM_031885.4(BBS2):c.285G>A (p.Gly95=) rs752531652
NM_031885.4(BBS2):c.382T>C (p.Leu128=) rs374060552
NM_031885.4(BBS2):c.413T>G (p.Ile138Ser) rs1386789664
NM_031885.4(BBS2):c.508G>A (p.Asp170Asn) rs786205498
NM_031885.4(BBS2):c.525A>G (p.Gly175=) rs34191306
NM_031885.4(BBS2):c.535-2A>G rs1555523398
NM_031885.4(BBS2):c.661del (p.Leu221fs) rs770258677
NM_031885.4(BBS2):c.805-20A>G rs41280892
NM_031885.4(BBS2):c.819T>C (p.Ser273=) rs550992948
NM_031885.4(BBS2):c.823C>T (p.Arg275Ter) rs121908177
NM_031885.4(BBS2):c.831G>A (p.Gly277=) rs1204202948
NM_031885.5(BBS2):c.534+2dup

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