ClinVar Miner

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

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_031885.5(BBS2):c.401C>G (p.Pro134Arg)	rs376306240	0.00003
NM_031885.5(BBS2):c.943C>T (p.Arg315Trp)	rs121908178	0.00003
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)	rs567573386	0.00001

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