ClinVar Miner

List of variants reported as uncertain significance for Bardet-Biedl syndrome 13; Meckel syndrome, type 1; Joubert syndrome 28 by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_017777.4(MKS1):c.1498A>G (p.Met500Val)	rs144635826	0.00054
NM_017777.4(MKS1):c.1387C>T (p.Arg463Trp)	rs766392300	0.00003
NM_017777.4(MKS1):c.1505C>G (p.Ser502Trp)	rs758838271

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