ClinVar Miner

List of variants in gene BBS2 reported as uncertain significance for Bardet-Biedl syndrome

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Total variants: 54
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HGVS dbSNP
NM_031885.4(BBS2):c.-146G>A rs886052153
NM_031885.4(BBS2):c.109A>G (p.Thr37Ala) rs1284353332
NM_031885.4(BBS2):c.118-16_118-13del rs758674101
NM_031885.4(BBS2):c.1885G>A (p.Glu629Lys) rs746505864
NM_031885.4(BBS2):c.1894C>T (p.Arg632Cys) rs200021475
NM_031885.4(BBS2):c.1953T>C (p.Asn651=) rs200621431
NM_031885.4(BBS2):c.235A>C (p.Thr79Pro) rs1387025330
NM_031885.4(BBS2):c.327G>A (p.Ser109=) rs770497817
NM_031885.4(BBS2):c.358G>A (p.Ala120Thr) rs148808295
NM_031885.4(BBS2):c.471+3_471+4delinsCA rs1567582876
NM_031885.4(BBS2):c.642C>T (p.Gly214=) rs141563594
NM_031885.4(BBS2):c.766G>A (p.Gly256Arg) rs886052147
NM_031885.4(BBS2):c.950A>G (p.Tyr317Cys) rs1597016660
NM_031885.4(BBS2):c.986T>C (p.Met329Thr) rs201146063
NM_031885.5(BBS2):c.1120C>T (p.Arg374Trp)
NM_031885.5(BBS2):c.112G>A (p.Gly38Ser)
NM_031885.5(BBS2):c.1157C>T (p.Thr386Met)
NM_031885.5(BBS2):c.117+5C>T
NM_031885.5(BBS2):c.1208G>C (p.Arg403Pro)
NM_031885.5(BBS2):c.1220C>T (p.Ser407Phe)
NM_031885.5(BBS2):c.1223A>G (p.Asn408Ser)
NM_031885.5(BBS2):c.1297A>G (p.Ser433Gly)
NM_031885.5(BBS2):c.1454C>T (p.Ala485Val)
NM_031885.5(BBS2):c.1469A>G (p.Asp490Gly)
NM_031885.5(BBS2):c.1516C>T (p.Arg506Trp)
NM_031885.5(BBS2):c.1527+5G>C
NM_031885.5(BBS2):c.1543G>A (p.Gly515Ser)
NM_031885.5(BBS2):c.1555C>G (p.Leu519Val)
NM_031885.5(BBS2):c.159T>G (p.Ser53Arg)
NM_031885.5(BBS2):c.1624G>T (p.Gly542Cys)
NM_031885.5(BBS2):c.1666A>G (p.Ile556Val)
NM_031885.5(BBS2):c.1690G>A (p.Ala564Thr)
NM_031885.5(BBS2):c.1759C>T (p.Pro587Ser)
NM_031885.5(BBS2):c.1797G>A (p.Lys599=)
NM_031885.5(BBS2):c.1808A>G (p.Tyr603Cys)
NM_031885.5(BBS2):c.184C>G (p.Leu62Val)
NM_031885.5(BBS2):c.1852T>G (p.Ser618Ala)
NM_031885.5(BBS2):c.1927C>T (p.Arg643Cys)
NM_031885.5(BBS2):c.1982G>A (p.Arg661His)
NM_031885.5(BBS2):c.1999G>C (p.Glu667Gln)
NM_031885.5(BBS2):c.2056C>T (p.Arg686Trp)
NM_031885.5(BBS2):c.2084T>C (p.Ile695Thr)
NM_031885.5(BBS2):c.269A>G (p.Asp90Gly)
NM_031885.5(BBS2):c.35A>G (p.His12Arg)
NM_031885.5(BBS2):c.422A>G (p.Asn141Ser)
NM_031885.5(BBS2):c.581A>G (p.Asp194Gly)
NM_031885.5(BBS2):c.635T>C (p.Met212Thr)
NM_031885.5(BBS2):c.685T>C (p.Tyr229His) rs778543585
NM_031885.5(BBS2):c.68G>C (p.Arg23Pro)
NM_031885.5(BBS2):c.717+5G>A
NM_031885.5(BBS2):c.725A>G (p.Asn242Ser)
NM_031885.5(BBS2):c.962C>T (p.Thr321Met)
NM_031885.5(BBS2):c.983T>A (p.Leu328His)
NM_031885.5(BBS2):c.988G>A (p.Asp330Asn)

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