ClinVar Miner

List of variants in gene BBS2 reported as pathogenic by OMIM

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Total variants: 20
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HGVS dbSNP
BBS2, ASP170FS, TER171
BBS2, CYS210FS, TER246
BBS2, LEU168FS, TER170
BBS2, THR560ILE
NM_031885.3(BBS2):c.472del (p.Val158Leufs) rs587777826
NM_031885.4(BBS2):c.118-1G>C rs587777825
NM_031885.4(BBS2):c.175C>T (p.Gln59Ter) rs121908176
NM_031885.4(BBS2):c.1895G>C (p.Arg632Pro) rs138043021
NM_031885.4(BBS2):c.209A>G (p.Asn70Ser) rs4784677
NM_031885.4(BBS2):c.224T>G (p.Val75Gly) rs121908174
NM_031885.4(BBS2):c.311A>C (p.Asp104Ala) rs121908179
NM_031885.4(BBS2):c.401C>G (p.Pro134Arg) rs376306240
NM_031885.4(BBS2):c.416G>T (p.Gly139Val) rs121908181
NM_031885.4(BBS2):c.472-2A>G rs137854887
NM_031885.4(BBS2):c.646C>T (p.Arg216Ter) rs121908180
NM_031885.4(BBS2):c.72C>G (p.Tyr24Ter) rs121908175
NM_031885.4(BBS2):c.823C>T (p.Arg275Ter) rs121908177
NM_031885.4(BBS2):c.940del (p.Ile314fs) rs587777824
NM_031885.4(BBS2):c.943C>T (p.Arg315Trp) rs121908178
NM_031885.4(BBS2):c.98C>A (p.Ala33Asp) rs797045155

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