List of variants in gene BBS7 reported as benign for Bardet-Biedl syndrome

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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: 19

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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.171G>A (p.Val57=)	rs144525608	0.00060
NM_176824.3(BBS7):c.1230+18T>C	rs750801316	0.00038
NM_176824.3(BBS7):c.1311C>T (p.Asn437=)	rs199812109	0.00008
NM_176824.3(BBS7):c.1337G>A (p.Arg446Gln)	rs372685495	0.00002
NM_176824.3(BBS7):c.639C>T (p.Asp213=)	rs150407489	0.00002
NM_176824.3(BBS7):c.*729del	rs3217754
NM_176824.3(BBS7):c.1231-15del
NM_176824.3(BBS7):c.1231-15dup	rs747444432
NM_176824.3(BBS7):c.1372-13dup
NM_176824.3(BBS7):c.166-4del
NM_176824.3(BBS7):c.166-4dup
NM_176824.3(BBS7):c.1677-17del
NM_176824.3(BBS7):c.849+17del
NM_176824.3(BBS7):c.849+17dup

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