ClinVar Miner

List of variants reported as uncertain significance for Bardet-Biedl syndrome 2 by Counsyl

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_031885.5(BBS2):c.1523A>C (p.Gln508Pro) rs115328064 0.00068
NM_031885.5(BBS2):c.1046T>G (p.Leu349Trp) rs752280639 0.00004
NM_031885.5(BBS2):c.1207C>T (p.Arg403Cys) rs766873519 0.00004
NM_031885.5(BBS2):c.1885G>A (p.Glu629Lys) rs746505864 0.00004
NM_031885.5(BBS2):c.1928G>A (p.Arg643His) rs532361142 0.00003
NM_031885.5(BBS2):c.943C>T (p.Arg315Trp) rs121908178 0.00003
NM_031885.5(BBS2):c.691A>G (p.Lys231Glu) rs754487754 0.00002
NM_031885.5(BBS2):c.86C>T (p.Pro29Leu) rs771211831 0.00002
NM_031885.5(BBS2):c.1662C>G (p.Ile554Met) rs774112668 0.00001
NM_031885.5(BBS2):c.1891G>A (p.Ala631Thr) rs771822557 0.00001
NM_031885.5(BBS2):c.2143C>T (p.Arg715Ter) rs1555520107 0.00001
NM_031885.5(BBS2):c.241G>T (p.Gly81Cys) rs750506474 0.00001
NM_031885.5(BBS2):c.334T>C (p.Phe112Leu) rs772864503 0.00001
NM_031885.5(BBS2):c.471G>A (p.Thr157=) rs749983428 0.00001
NM_031885.5(BBS2):c.730_732del (p.Ala244del) rs1171314440 0.00001
NM_031885.3(BBS2):c.1528_1539del12 rs1555521575
NM_031885.5(BBS2):c.2043_2058dup (p.Val687fs) rs1555520212
NM_031885.5(BBS2):c.2166G>C (p.Ter722Tyr) rs1555520101
NM_031885.5(BBS2):c.365C>T (p.Ala122Val) rs17856449
NM_031885.5(BBS2):c.766G>A (p.Gly256Arg) rs886052147
NM_031885.5(BBS2):c.944G>A (p.Arg315Gln) rs544773389

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.