List of variants reported as likely pathogenic for Nephronophthisis 3

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_153240.5(NPHP3):c.2342G>A (p.Gly781Asp)	rs781180515	0.00005
NM_153240.5(NPHP3):c.1928C>T (p.Pro643Leu)	rs760831781	0.00004
NM_153240.5(NPHP3):c.1871C>T (p.Ser624Phe)	rs1939561839	0.00001
NM_153240.5(NPHP3):c.2154C>T (p.Phe718=)	rs558637226	0.00001
NM_153240.5(NPHP3):c.2805C>T (p.Gly935=)	rs1281725083	0.00001
NM_153240.5(NPHP3):c.3494G>A (p.Arg1165Gln)	rs138630766	0.00001
NM_153240.4(NPHP3):c.[2108A>C];[3373C>T]
NM_153240.5(NPHP3):c.326TGT[1] (p.Leu110del)	rs753616848
NM_153240.5(NPHP3):c.3406C>T (p.Gln1136Ter)	rs1576660495
NM_153240.5(NPHP3):c.3419dup (p.Asn1140fs)	rs1939111919
NM_153240.5(NPHP3):c.3757C>G (p.Leu1253Val)	rs775281384

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