List of variants reported as pathogenic for Nephronophthisis 3

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Total variants: 15

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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.1381G>T (p.Glu461Ter)	rs119456961	0.00002
NM_153240.5(NPHP3):c.3775C>T (p.Arg1259Ter)	rs758716466	0.00002
NM_153240.5(NPHP3):c.1174C>T (p.Arg392Ter)	rs1485445500	0.00001
NM_153240.5(NPHP3):c.1943dup (p.Ile649fs)	rs746059113	0.00001
NM_153240.5(NPHP3):c.424C>T (p.Arg142Ter)	rs771742823	0.00001
NM_153240.5(NPHP3):c.1079G>C (p.Ser360Thr)	rs119456960
NM_153240.5(NPHP3):c.1087_1090del (p.Val363fs)	rs1576682880
NM_153240.5(NPHP3):c.3608del (p.Ala1203fs)	rs1060499938
NM_153240.5(NPHP3):c.372_376del (p.Lys124fs)	rs1940240492
NM_153240.5(NPHP3):c.3821GAG[1] (p.Gly1275del)	rs119456959
NM_153240.5(NPHP3):c.3837dup (p.Ala1280fs)	rs1559998795
NM_153240.5(NPHP3):c.434_437del (p.Glu145fs)	rs763300393
NM_153240.5(NPHP3):c.520-1G>T	rs759262253

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