ClinVar Miner

List of variants studied for Joubert syndrome with renal defect; Nephronophthisis 1; Senior-Loken syndrome 1 by Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_000272.3(NPHP1):c.625-3dup	rs200118387

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