ClinVar Miner

List of variants in gene combination NPHP3, NPHP3-ACAD11 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP
NM_153240.5(NPHP3):c.-49G>A
NM_153240.5(NPHP3):c.105G>A (p.Lys35=) rs377060857
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser) rs142021049
NM_153240.5(NPHP3):c.1525-211A>G
NM_153240.5(NPHP3):c.1525-5del rs762115717
NM_153240.5(NPHP3):c.1629-17C>A rs145056102
NM_153240.5(NPHP3):c.1887+6G>A rs79113972
NM_153240.5(NPHP3):c.189G>A (p.Gly63=) rs750280281
NM_153240.5(NPHP3):c.2089-9C>T rs141397228
NM_153240.5(NPHP3):c.255G>A (p.Glu85=) rs146839563
NM_153240.5(NPHP3):c.2693+17A>G rs200046908
NM_153240.5(NPHP3):c.2769C>T (p.Phe923=) rs116174472
NM_153240.5(NPHP3):c.2883+13G>C rs112375565
NM_153240.5(NPHP3):c.2931A>G (p.Leu977=) rs146316936
NM_153240.5(NPHP3):c.306C>T (p.Arg102=) rs762134618
NM_153240.5(NPHP3):c.3093A>G (p.Glu1031=) rs112300370
NM_153240.5(NPHP3):c.3126-276A>G
NM_153240.5(NPHP3):c.3189A>G (p.Lys1063=) rs112386774
NM_153240.5(NPHP3):c.3570+9G>T rs112749193
NM_153240.5(NPHP3):c.3663C>T (p.Ala1221=) rs112144165
NM_153240.5(NPHP3):c.3664T>C (p.Leu1222=) rs142616619
NM_153240.5(NPHP3):c.3697-7del rs564013823
NM_153240.5(NPHP3):c.3717G>A (p.Leu1239=) rs146759786
NM_153240.5(NPHP3):c.393+18C>T rs367765709
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802
NM_153240.5(NPHP3):c.408G>A (p.Thr136=) rs141410951
NM_153240.5(NPHP3):c.449C>T (p.Ala150Val) rs142663818
NM_153240.5(NPHP3):c.520-10C>G rs200144727
NM_153240.5(NPHP3):c.921A>G (p.Thr307=) rs368874413

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