ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 64
Download table as spreadsheet
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.2851C>T (p.Arg951Ter) rs148670389 0.00004
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.2369T>C (p.Leu790Pro) rs398124546 0.00002
NM_153240.5(NPHP3):c.2563C>T (p.Gln855Ter) rs201237799 0.00002
NM_153240.5(NPHP3):c.3775C>T (p.Arg1259Ter) rs758716466 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.1911G>A (p.Trp637Ter) rs919854764 0.00001
NM_153240.5(NPHP3):c.1920T>G (p.Asp640Glu) rs869312915 0.00001
NM_153240.5(NPHP3):c.2154C>T (p.Phe718=) rs558637226 0.00001
NM_153240.5(NPHP3):c.3111C>G (p.Tyr1037Ter) rs1007848349 0.00001
NM_153240.5(NPHP3):c.3373C>T (p.Arg1125Ter) rs368138001 0.00001
NM_153240.5(NPHP3):c.424C>T (p.Arg142Ter) rs771742823 0.00001
NM_153240.5(NPHP3):c.988G>A (p.Glu330Lys) rs758498695 0.00001
NM_153240.5(NPHP3):c.1040dup (p.Asn347fs) rs2107996325
NM_153240.5(NPHP3):c.1087_1090del (p.Val363fs) rs1576682880
NM_153240.5(NPHP3):c.1094_1098del (p.Leu365fs)
NM_153240.5(NPHP3):c.1124T>A (p.Leu375Ter)
NM_153240.5(NPHP3):c.1164del (p.Gly389fs) rs2107990671
NM_153240.5(NPHP3):c.1289C>G (p.Ser430Ter)
NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del) rs1456714047
NM_153240.5(NPHP3):c.1531C>T (p.Gln511Ter)
NM_153240.5(NPHP3):c.1675del (p.His559fs)
NM_153240.5(NPHP3):c.1706C>G (p.Ser569Ter)
NM_153240.5(NPHP3):c.1832_1833del (p.Ser611fs) rs780165789
NM_153240.5(NPHP3):c.1976del (p.Pro659fs) rs1939543636
NM_153240.5(NPHP3):c.1985+1G>A rs1553773271
NM_153240.5(NPHP3):c.2040del (p.Ile680_Ile681insTer) rs757578685
NM_153240.5(NPHP3):c.2111_2112del (p.Cys704fs) rs2107976854
NM_153240.5(NPHP3):c.2218C>T (p.Gln740Ter)
NM_153240.5(NPHP3):c.2387G>A (p.Trp796Ter) rs2107971687
NM_153240.5(NPHP3):c.2702_2703del (p.Phe901fs)
NM_153240.5(NPHP3):c.2880_2883del (p.Ser960fs) rs1939234862
NM_153240.5(NPHP3):c.2956dup (p.Gln986fs) rs1560002147
NM_153240.5(NPHP3):c.2985C>G (p.Tyr995Ter) rs777768843
NM_153240.5(NPHP3):c.3003del (p.Phe1001fs) rs1560002113
NM_153240.5(NPHP3):c.30del (p.Ala11fs) rs1311592052
NM_153240.5(NPHP3):c.3118C>T (p.Gln1040Ter)
NM_153240.5(NPHP3):c.3129T>A (p.Tyr1043Ter) rs758238787
NM_153240.5(NPHP3):c.3156dup (p.Ser1053fs) rs771215577
NM_153240.5(NPHP3):c.3255_3256dup (p.Gly1086fs)
NM_153240.5(NPHP3):c.3309C>G (p.Tyr1103Ter) rs1560000875
NM_153240.5(NPHP3):c.3402_3403del (p.Ala1135fs) rs746849675
NM_153240.5(NPHP3):c.3439G>T (p.Glu1147Ter) rs2107963367
NM_153240.5(NPHP3):c.3576del (p.Lys1192fs)
NM_153240.5(NPHP3):c.3726T>A (p.Tyr1242Ter)
NM_153240.5(NPHP3):c.3787del (p.Thr1263fs) rs2107961294
NM_153240.5(NPHP3):c.3810dup (p.Ser1271Ter)
NM_153240.5(NPHP3):c.3812+1G>T rs1459151671
NM_153240.5(NPHP3):c.3820G>T (p.Gly1274Ter) rs1939045407
NM_153240.5(NPHP3):c.3821GAG[1] (p.Gly1275del) rs119456959
NM_153240.5(NPHP3):c.391C>T (p.Gln131Ter)
NM_153240.5(NPHP3):c.406del (p.Thr136fs) rs1379989124
NM_153240.5(NPHP3):c.410del (p.Tyr137fs) rs1560017690
NM_153240.5(NPHP3):c.434_437del (p.Glu145fs) rs763300393
NM_153240.5(NPHP3):c.436del (p.Ser146fs) rs1940156340
NM_153240.5(NPHP3):c.457C>T (p.Gln153Ter)
NM_153240.5(NPHP3):c.634dup (p.Glu212fs) rs747052534
NM_153240.5(NPHP3):c.707_716del (p.Ala236fs) rs1349623728

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.