List of variants in gene BBS7 studied for Bardet-Biedl syndrome 1

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_176824.3(BBS7):c.1891-12C>A	rs2706793	0.79185
NM_176824.3(BBS7):c.1890+16G>A	rs1507994	0.40768
NM_176824.3(BBS7):c.186C>T (p.Pro62=)	rs35194418	0.00662
NM_176824.3(BBS7):c.1505A>G (p.His502Arg)	rs114718913	0.00589
NM_176824.3(BBS7):c.1512-7A>T	rs115987385	0.00545
NM_176824.3(BBS7):c.68T>G (p.Leu23Arg)	rs1727380420
NM_176824.3(BBS7):c.712_715del (p.Arg238fs)	rs760165634

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