List of variants in gene BBS4 reported by CeGaT Center for Human Genetics Tuebingen

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg)	rs75295839	0.00687
NM_033028.5(BBS4):c.*611C>T	rs41277724	0.00586
NM_033028.5(BBS4):c.*43G>T	rs144706746	0.00421
NM_033028.5(BBS4):c.332+27dup	rs558055315	0.00243
NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp)	rs147202164	0.00063
NM_033028.5(BBS4):c.1107-7G>A	rs766664389	0.00006
NM_033028.5(BBS4):c.1103A>G (p.Asp368Gly)	rs772548770	0.00001
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter)	rs775710800	0.00001
NM_033028.5(BBS4):c.157-3C>G	rs1567412639
NM_033028.5(BBS4):c.322G>A (p.Ala108Thr)	rs1595928075
NM_033028.5(BBS4):c.332+2_332+3insTT	rs753360929
NM_033028.5(BBS4):c.548A>G (p.Asp183Gly)	rs751216768

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