ClinVar Miner

List of variants reported as pathogenic for Nephronophthisis 15 by Invitae

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Total variants: 7
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NM_014956.5(CEP164):c.2020C>T (p.Arg674Ter)
NM_014956.5(CEP164):c.2209C>T (p.Gln737Ter)
NM_014956.5(CEP164):c.2689C>T (p.Arg897Ter) rs764893412
NM_014956.5(CEP164):c.3739C>T (p.Gln1247Ter)
NM_014956.5(CEP164):c.381dup (p.Lys128fs) rs747914869
NM_014956.5(CEP164):c.4228C>T (p.Gln1410Ter) rs147398904
NM_014956.5(CEP164):c.901C>T (p.Arg301Ter) rs780849567

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