ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 1 by GeneReviews

Included ClinVar conditions (3):

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 1, modifier of
Bardet-Biedl syndrome 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa; Retinitis pigmentosa 55

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

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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