List of variants reported as likely pathogenic for Nephronophthisis 15 by Fulgent Genetics, Fulgent Genetics

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_014956.5(CEP164):c.3739C>T (p.Gln1247Ter)	rs140611214	0.00016
NM_014956.5(CEP164):c.1669dup (p.Glu557fs)	rs749114363	0.00004
NM_014956.5(CEP164):c.2209C>T (p.Gln737Ter)	rs562932233	0.00004
NM_014956.5(CEP164):c.451C>T (p.Arg151Ter)	rs149195472	0.00004
NM_014956.5(CEP164):c.2689C>T (p.Arg897Ter)	rs764893412	0.00002
NM_014956.5(CEP164):c.10C>T (p.Arg4Ter)	rs765277720	0.00001
NM_014956.5(CEP164):c.1724+1G>A	rs1489883516	0.00001
NM_014956.5(CEP164):c.2493+1G>A	rs778819060	0.00001
NM_014956.5(CEP164):c.2509C>T (p.Arg837Ter)	rs774951398	0.00001
GRCh37/hg19 11q23.3(chr11:117278620-117284002)
NM_014956.5(CEP164):c.2992C>T (p.Arg998Ter)	rs1323529877
NM_014956.5(CEP164):c.3749-2A>G	rs1482717760
NM_014956.5(CEP164):c.381dup (p.Lys128fs)	rs747914869
NM_014956.5(CEP164):c.4293_4294del (p.Phe1432fs)	rs756288878

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