ClinVar Miner

List of variants studied for Nephronophthisis 15 by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_014956.5(CEP164):c.2021G>A (p.Arg674Gln) rs142184414 0.00075
NM_014956.5(CEP164):c.4250G>A (p.Arg1417Gln) rs560527787

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