ClinVar Miner

List of variants reported as likely pathogenic for Nephronophthisis 19

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_016356.5(DCDC2):c.223_293del (p.Arg75fs) rs1760494153
NM_016356.5(DCDC2):c.901C>T (p.Gln301Ter)

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