ClinVar Miner

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

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP
BBS2, CYS210FS, TER246
NC_000016.9:g.(56519651_56530879)_(56536720_56539861)del
NC_000016.9:g.(?_56518653)_(56545216_?)del
NM_031885.4(BBS2):c.1062C>G (p.Asn354Lys) rs1567576202
NM_031885.4(BBS2):c.118-1G>C rs587777825
NM_031885.4(BBS2):c.1237C>T (p.Arg413Ter) rs147030232
NM_031885.4(BBS2):c.1438C>T (p.Arg480Ter) rs778090540
NM_031885.4(BBS2):c.1546C>T (p.Gln516Ter)
NM_031885.4(BBS2):c.1705C>T (p.Gln569Ter) rs1555521501
NM_031885.4(BBS2):c.175C>T (p.Gln59Ter) rs121908176
NM_031885.4(BBS2):c.1770del (p.Phe590fs) rs193922711
NM_031885.4(BBS2):c.1780C>T (p.Arg594Ter) rs762047808
NM_031885.4(BBS2):c.1814C>G (p.Ser605Ter) rs201063733
NM_031885.4(BBS2):c.1864C>T (p.Arg622Ter) rs201196733
NM_031885.4(BBS2):c.1895G>C (p.Arg632Pro) rs138043021
NM_031885.4(BBS2):c.1909_1910del (p.Met637fs) rs1555521379
NM_031885.4(BBS2):c.224T>G (p.Val75Gly) rs121908174
NM_031885.4(BBS2):c.263del (p.Gly88fs) rs869025206
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.522T>A (p.Asp174Glu) rs767373822
NM_031885.4(BBS2):c.534+1G>T rs773862084
NM_031885.4(BBS2):c.565C>T (p.Arg189Ter) rs1273181642
NM_031885.4(BBS2):c.646C>T (p.Arg216Ter) rs121908180
NM_031885.4(BBS2):c.661del (p.Leu221fs) rs770258677
NM_031885.4(BBS2):c.700C>T (p.Arg234Ter) rs779690256
NM_031885.4(BBS2):c.72C>G (p.Tyr24Ter) rs121908175
NM_031885.4(BBS2):c.814C>T (p.Arg272Ter) rs764164384
NM_031885.4(BBS2):c.823C>T (p.Arg275Ter) rs121908177
NM_031885.4(BBS2):c.940del (p.Ile314fs) rs587777824
NM_031885.5(BBS2):c.1486_1489del (p.Ile496fs)
NM_031885.5(BBS2):c.1843dup (p.Ala615fs)
NM_031885.5(BBS2):c.774del (p.Asn258fs)

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