ClinVar Miner

List of variants in gene combination NPHP3, NPHP3-ACAD11 reported as pathogenic by Invitae

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Total variants: 11
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NM_153240.5(NPHP3):c.1087_1090del (p.Val363fs)
NM_153240.5(NPHP3):c.1817G>A (p.Trp606Ter) rs182135982
NM_153240.5(NPHP3):c.1985+1G>A rs1553773271
NM_153240.5(NPHP3):c.2563C>T (p.Gln855Ter)
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253
NM_153240.5(NPHP3):c.2956dup (p.Gln986fs) rs1560002147
NM_153240.5(NPHP3):c.3129T>A (p.Tyr1043Ter)
NM_153240.5(NPHP3):c.3156dup (p.Ser1053fs) rs771215577
NM_153240.5(NPHP3):c.3309C>G (p.Tyr1103Ter) rs1560000875
NM_153240.5(NPHP3):c.410del (p.Tyr137fs) rs1560017690
NM_153240.5(NPHP3):c.60C>G (p.Tyr20Ter) rs773521620

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