List of variants in gene BBS2 reported as pathogenic by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_031885.5(BBS2):c.209= (p.Ser70=)	rs4784677	0.00466
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro)	rs138043021	0.00010
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter)	rs121908177	0.00010
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala)	rs121908179	0.00003
NM_031885.5(BBS2):c.401C>G (p.Pro134Arg)	rs376306240	0.00003
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter)	rs121908175	0.00003
NM_031885.5(BBS2):c.943C>T (p.Arg315Trp)	rs121908178	0.00003
NM_031885.5(BBS2):c.175C>T (p.Gln59Ter)	rs121908176	0.00001
NM_031885.5(BBS2):c.646C>T (p.Arg216Ter)	rs121908180	0.00001
NM_031885.5(BBS2):c.98C>A (p.Ala33Asp)	rs797045155	0.00001
BBS2, ASP170FS, TER171
BBS2, CYS210FS, TER246
BBS2, LEU168FS, TER170
BBS2, THR560ILE
NM_031885.5(BBS2):c.118-1G>C	rs587777825
NM_031885.5(BBS2):c.224T>G (p.Val75Gly)	rs121908174
NM_031885.5(BBS2):c.416G>T (p.Gly139Val)	rs121908181
NM_031885.5(BBS2):c.472-2A>G	rs137854887
NM_031885.5(BBS2):c.472del	rs587777826
NM_031885.5(BBS2):c.940del (p.Ile314fs)	rs587777824

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