ClinVar Miner

List of variants reported as pathogenic for Bardet-Biedl syndrome 17 by OMIM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_020347.4(LZTFL1):c.778G>T (p.Glu260Ter)	rs515726136	0.00001
NM_020347.4(LZTFL1):c.260T>C (p.Leu87Pro)	rs515726135
NM_020347.4(LZTFL1):c.402_406del (p.Pro136fs)	rs431825171

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