List of variants reported as likely benign for Bardet-Biedl syndrome 2 by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_031885.5(BBS2):c.1380C>T (p.Phe460=)	rs141046144	0.00086
NM_031885.5(BBS2):c.1523A>C (p.Gln508Pro)	rs115328064	0.00068
NM_031885.5(BBS2):c.472-10T>C	rs138714256	0.00049
NM_031885.5(BBS2):c.525A>G (p.Gly175=)	rs34191306	0.00045
NM_031885.5(BBS2):c.1104C>T (p.Asn368=)	rs141731677	0.00024
NM_031885.5(BBS2):c.1157C>T (p.Thr386Met)	rs138314289	0.00012
NM_031885.5(BBS2):c.744T>C (p.His248=)	rs186893286	0.00004
NM_031885.5(BBS2):c.2088T>C (p.Thr696=)	rs886052144	0.00002
NM_031885.5(BBS2):c.382T>C (p.Leu128=)	rs374060552	0.00002
NM_031885.5(BBS2):c.819T>C (p.Ser273=)	rs550992948	0.00002
NM_031885.5(BBS2):c.984C>T (p.Leu328=)	rs1285508370

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