List of variants in gene BBS4 reported as uncertain significance by Eurofins NTD LLC (GA)

Minimum submission review status:		Collection method:
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: 10

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HGVS	dbSNP	gnomAD frequency
NM_033028.5(BBS4):c.208A>G (p.Ile70Val)	rs142692981	0.00118
NM_033028.5(BBS4):c.1049A>G (p.Asn350Ser)	rs150395094	0.00096
NM_033028.5(BBS4):c.1140G>A (p.Val380=)	rs141511580	0.00036
NM_033028.5(BBS4):c.1548_1549del (p.Ile516fs)	rs398124432	0.00014
NM_033028.5(BBS4):c.64C>T (p.Arg22Trp)	rs727503820	0.00013
NM_033028.5(BBS4):c.986C>T (p.Ala329Val)	rs201987100	0.00004
NM_033028.5(BBS4):c.-3A>G	rs771900208	0.00003
NM_033028.5(BBS4):c.1450+10T>C	rs886042845	0.00001
NM_033028.5(BBS4):c.627A>T (p.Gly209=)	rs754921681	0.00001
NM_033028.5(BBS4):c.1089A>C (p.Glu363Asp)	rs1458788200

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