List of variants in gene combination BBS1, ZDHHC24 reported by Genetic Services Laboratory, University of Chicago

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_024649.5(BBS1):c.1020C>G (p.Ser340=)	rs35209408	0.00470
NM_024649.5(BBS1):c.831-5C>T	rs56177555	0.00285
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00212
NM_024649.5(BBS1):c.1719A>G (p.Gln573=)	rs150553044	0.00194
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp)	rs141528309	0.00096
NM_024649.5(BBS1):c.1695+10G>A	rs200276861	0.00029
NM_024649.5(BBS1):c.981C>T (p.Pro327=)	rs142243482	0.00011
NM_024649.5(BBS1):c.744C>T (p.Pro248=)	rs528073027	0.00006
NM_024649.5(BBS1):c.802C>T (p.Arg268Cys)	rs760381850	0.00006
NM_024649.5(BBS1):c.1684G>T (p.Asp562Tyr)	rs768098877	0.00002
NM_024649.5(BBS1):c.1626A>G (p.Pro542=)	rs780444865	0.00001
NM_024649.5(BBS1):c.1640C>A (p.Pro547His)	rs774636593	0.00001
NM_024649.5(BBS1):c.803G>A (p.Arg268His)	rs375949076	0.00001
NM_024649.5(BBS1):c.1439C>G (p.Thr480Arg)	rs374706769
NM_024649.5(BBS1):c.952-1G>C	rs1057516661
NM_024649.5(BBS1):c.976A>T (p.Met326Leu)	rs200758309

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