ClinVar Miner

List of variants reported as not provided for Bardet-Biedl syndrome 1 by GeneReviews

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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_001195305.3(BBIP1):c.173T>G (p.Leu58Ter)	rs515726134	0.00001
NM_020347.4(LZTFL1):c.778G>T (p.Glu260Ter)	rs515726136	0.00001
NM_020347.4(LZTFL1):c.260T>C (p.Leu87Pro)	rs515726135

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