ClinVar Miner

List of variants in gene BBS2 reported by Ambry Genetics

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_031885.5(BBS2):c.358G>A (p.Ala120Thr) rs148808295 0.00030
NM_031885.5(BBS2):c.1927C>T (p.Arg643Cys) rs147397090 0.00019
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro) rs138043021 0.00010
NM_031885.5(BBS2):c.1527+5G>C rs769041685 0.00006
NM_031885.5(BBS2):c.970A>T (p.Met324Leu) rs778551017 0.00005
NM_031885.5(BBS2):c.1666A>G (p.Ile556Val) rs376380339 0.00004
NM_031885.5(BBS2):c.962C>T (p.Thr321Met) rs758548498 0.00004
NM_031885.5(BBS2):c.380C>G (p.Thr127Arg) rs1191790453 0.00003
NM_031885.5(BBS2):c.1616G>A (p.Arg539Gln) rs753398421 0.00002
NM_031885.5(BBS2):c.1713G>A (p.Met571Ile) rs755329143 0.00002
NM_031885.5(BBS2):c.2104A>G (p.Ile702Val) rs750150867 0.00002
NM_031885.5(BBS2):c.159T>G (p.Ser53Arg) rs1250423040 0.00001
NM_031885.5(BBS2):c.184C>G (p.Leu62Val) rs201860939 0.00001
NM_031885.5(BBS2):c.1999G>C (p.Glu667Gln) rs1476749003 0.00001
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter) rs567573386 0.00001
NM_031885.5(BBS2):c.112G>C (p.Gly38Arg)
NM_031885.5(BBS2):c.113G>A (p.Gly38Asp) rs748872389
NM_031885.5(BBS2):c.1214C>G (p.Ser405Cys)
NM_031885.5(BBS2):c.1847A>T (p.Asp616Val)
NM_031885.5(BBS2):c.1943A>G (p.Tyr648Cys)
NM_031885.5(BBS2):c.2035A>G (p.Ile679Val)
NM_031885.5(BBS2):c.2057G>A (p.Arg686Gln)
NM_031885.5(BBS2):c.326C>T (p.Ser109Leu)
NM_031885.5(BBS2):c.492T>G (p.Asn164Lys) rs779800067
NM_031885.5(BBS2):c.649T>G (p.Phe217Val)
NM_031885.5(BBS2):c.661del (p.Leu221fs) rs770258677
NM_031885.5(BBS2):c.878T>C (p.Val293Ala)

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