List of variants reported as pathogenic for NPHP3-related Meckel-like syndrome

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_153240.5(NPHP3):c.2694-2_2694-1del	rs751527253	0.00026
NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter)	rs267606916	0.00010
NM_153240.5(NPHP3):c.958-2A>G	rs780148543	0.00006
NM_153240.5(NPHP3):c.1817G>A (p.Trp606Ter)	rs182135982	0.00003
NM_153240.5(NPHP3):c.1381G>T (p.Glu461Ter)	rs119456961	0.00002
NM_153240.5(NPHP3):c.2563C>T (p.Gln855Ter)	rs201237799	0.00002
NM_153240.5(NPHP3):c.469del (p.Arg157fs)	rs773760404	0.00002
NM_153240.5(NPHP3):c.1174C>T (p.Arg392Ter)	rs1485445500	0.00001
NM_153240.5(NPHP3):c.1729C>T (p.Arg577Ter)	rs119456962	0.00001
NM_153240.5(NPHP3):c.3373C>T (p.Arg1125Ter)	rs368138001	0.00001
NM_153240.5(NPHP3):c.3619C>T (p.Arg1207Ter)	rs780020801	0.00001
NM_153240.5(NPHP3):c.2917C>T (p.Arg973Ter)
NM_153240.5(NPHP3):c.3406C>T (p.Gln1136Ter)	rs1576660495
NM_153240.5(NPHP3):c.434_437del (p.Glu145fs)	rs763300393
NM_153240.5(NPHP3):c.520-1G>T	rs759262253
NM_153240.5(NPHP3):c.748C>T (p.Gln250Ter)

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