ClinVar Miner

List of variants studied for Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	rs137852832	0.00006
NM_025114.4(CEP290):c.6645+1G>A	rs201218801	0.00005
NM_025114.4(CEP290):c.1060C>T (p.Gln354Ter)	rs2138021345
NM_025114.4(CEP290):c.3518A>C (p.Gln1173Pro)	rs2137303851

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