List of variants reported as benign for Bardet-Biedl syndrome 1 by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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

Total variants: 27

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_176824.3(BBS7):c.1891-12C>A	rs2706793	0.79185
NM_024649.5(BBS1):c.*7A>G	rs8432	0.66464
NM_015910.7(WDPCP):c.1915+13G>A	rs992214	0.63738
NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln)	rs309370	0.42071
NM_176824.3(BBS7):c.1890+16G>A	rs1507994	0.40768
NM_024649.5(BBS1):c.724-8G>C	rs10896125	0.24158
NM_024649.5(BBS1):c.378G>A (p.Leu126=)	rs2298806	0.21158
NM_031885.5(BBS2):c.367A>G (p.Ile123Val)	rs11373	0.20545
NM_152618.3(BBS12):c.1410C>T (p.Cys470=)	rs13135445	0.19015
NM_198428.3(BBS9):c.1363G>A (p.Ala455Thr)	rs11773504	0.17589
NM_152618.3(BBS12):c.1380G>C (p.Val460=)	rs13135766	0.16051
NM_152618.3(BBS12):c.1399G>A (p.Asp467Asn)	rs13135778	0.15902
NM_152618.3(BBS12):c.1872A>G (p.Gln624=)	rs13102440	0.15807
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr)	rs7665271	0.03441
NM_031885.5(BBS2):c.1659+3A>G	rs6499838	0.03415
NM_152618.3(BBS12):c.1209G>A (p.Val403=)	rs17006092	0.03229
NM_152618.3(BBS12):c.1062G>C (p.Val354=)	rs34296401	0.03153
NM_152618.3(BBS12):c.1847G>A (p.Ser616Asn)	rs28507107	0.02805
NM_152618.3(BBS12):c.1381A>C (p.Asn461His)	rs10027479	0.02523
NM_031885.5(BBS2):c.1511C>T (p.Ala504Val)	rs16957538	0.02076
NM_031885.5(BBS2):c.612+12C>A	rs77019529	0.01713
NM_198428.3(BBS9):c.2299-20A>C	rs17727583	0.01007
NM_198428.3(BBS9):c.1562G>A (p.Arg521Gln)	rs34218557	0.00872
NM_176824.3(BBS7):c.186C>T (p.Pro62=)	rs35194418	0.00662
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys)	rs35690634	0.00435
NM_198428.3(BBS9):c.1246G>A (p.Val416Met)	rs61764067	0.00375
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val)	rs116483694	0.00287

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.