ClinVar Miner

List of variants reported as uncertain significance for Joubert syndrome 20; Meckel syndrome, type 11 by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001077418.3(TMEM231):c.584T>C (p.Ile195Thr)	rs201412708	0.00017
NM_001077418.3(TMEM231):c.777G>C (p.Gln259His)	rs758048238	0.00001

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