ClinVar Miner

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

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Gene type:
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Total variants: 60
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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.703G>A (p.Gly235Arg) rs368570508 0.00008
NM_153240.5(NPHP3):c.2342G>A (p.Gly781Asp) rs781180515 0.00005
NM_153240.5(NPHP3):c.1928C>T (p.Pro643Leu) rs760831781 0.00004
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.2369T>C (p.Leu790Pro) rs398124546 0.00002
NM_153240.5(NPHP3):c.2563C>T (p.Gln855Ter) rs201237799 0.00002
NM_153240.5(NPHP3):c.2570+1G>T rs1322038132 0.00002
NM_153240.5(NPHP3):c.3775C>T (p.Arg1259Ter) rs758716466 0.00002
NM_153240.5(NPHP3):c.393+1G>C rs754332448 0.00002
NM_153240.5(NPHP3):c.1174C>T (p.Arg392Ter) rs1485445500 0.00001
NM_153240.5(NPHP3):c.1275+3A>T rs370712498 0.00001
NM_153240.5(NPHP3):c.1871C>T (p.Ser624Phe) rs1939561839 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.2171+1G>A rs1280230808 0.00001
NM_153240.5(NPHP3):c.2311-1G>C rs1363032805 0.00001
NM_153240.5(NPHP3):c.2311-2A>G rs1332659264 0.00001
NM_153240.5(NPHP3):c.2694-2A>T rs1395411307 0.00001
NM_153240.5(NPHP3):c.2805C>T (p.Gly935=) rs1281725083 0.00001
NM_153240.5(NPHP3):c.3111C>G (p.Tyr1037Ter) rs1007848349 0.00001
NM_153240.5(NPHP3):c.3287T>C (p.Leu1096Pro) rs777276873 0.00001
NM_153240.5(NPHP3):c.3422T>C (p.Leu1141Pro) rs1057521090 0.00001
NM_153240.5(NPHP3):c.3494G>A (p.Arg1165Gln) rs138630766 0.00001
NM_153240.5(NPHP3):c.430A>G (p.Lys144Glu) rs745342273 0.00001
NM_153240.4(NPHP3):c.[2108A>C];[3373C>T]
NM_153240.5(NPHP3):c.1007dup (p.His337fs) rs1576682959
NM_153240.5(NPHP3):c.1220_1221del (p.Ser407fs) rs1404621140
NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del) rs1456714047
NM_153240.5(NPHP3):c.1525-2A>G
NM_153240.5(NPHP3):c.1531C>T (p.Gln511Ter)
NM_153240.5(NPHP3):c.1598G>A (p.Gly533Asp)
NM_153240.5(NPHP3):c.1628+2T>A rs1277862520
NM_153240.5(NPHP3):c.1761G>A (p.Trp587Ter)
NM_153240.5(NPHP3):c.1791_1794dup (p.Leu599Ter)
NM_153240.5(NPHP3):c.1888-7_1893del rs1553773296
NM_153240.5(NPHP3):c.1985+1G>A rs1553773271
NM_153240.5(NPHP3):c.1985+5G>A rs754508002
NM_153240.5(NPHP3):c.2172-2A>C
NM_153240.5(NPHP3):c.2172-2A>G rs547310372
NM_153240.5(NPHP3):c.2279_2280insT (p.Asn761fs) rs2107974557
NM_153240.5(NPHP3):c.2647del (p.His883fs)
NM_153240.5(NPHP3):c.3020T>G (p.Leu1007Arg)
NM_153240.5(NPHP3):c.3129T>A (p.Tyr1043Ter) rs758238787
NM_153240.5(NPHP3):c.3201+2T>G
NM_153240.5(NPHP3):c.3233del (p.Leu1078fs)
NM_153240.5(NPHP3):c.326TGT[1] (p.Leu110del) rs753616848
NM_153240.5(NPHP3):c.3406C>T (p.Gln1136Ter) rs1576660495
NM_153240.5(NPHP3):c.3412_3413del (p.Leu1138fs) rs2107963405
NM_153240.5(NPHP3):c.3419dup (p.Asn1140fs) rs1939111919
NM_153240.5(NPHP3):c.3466G>T (p.Glu1156Ter)
NM_153240.5(NPHP3):c.3696_3696+3del
NM_153240.5(NPHP3):c.3757C>G (p.Leu1253Val) rs775281384
NM_153240.5(NPHP3):c.3821GAG[1] (p.Gly1275del) rs119456959
NM_153240.5(NPHP3):c.406del (p.Thr136fs) rs1379989124
NM_153240.5(NPHP3):c.447_471dup (p.Ala158fs) rs1553775392
NM_153240.5(NPHP3):c.634dup (p.Glu212fs) rs747052534
NM_153240.5(NPHP3):c.974T>C (p.Leu325Pro) rs1560014265
NM_153240.5(NPHP3):c.985T>C (p.Cys329Arg) rs766285779

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