List of variants reported as pathogenic for Nephronophthisis 15

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Total variants: 12

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HGVS	dbSNP
NM_014956.5(CEP164):c.1573C>T (p.Gln525Ter)	rs387907311
NM_014956.5(CEP164):c.1726C>T (p.Arg576Ter)	rs145646425
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.277C>T (p.Arg93Trp)	rs387907310
NM_014956.5(CEP164):c.32A>C (p.Gln11Pro)	rs387907309
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.4381T>C (p.Ter1461Arg)	rs1565649749
NM_014956.5(CEP164):c.901C>T (p.Arg301Ter)	rs780849567

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