ClinVar Miner

List of variants studied for Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 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_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_015272.5(RPGRIP1L):c.293G>T (p.Gly98Val) rs886052098 0.00002
NM_015272.5(RPGRIP1L):c.3493A>G (p.Met1165Val) rs2150964658

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