ClinVar Miner

List of variants in gene combination NPHP3, NPHP3-ACAD11 reported as likely pathogenic for NPHP3-related Meckel-like syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_153240.5(NPHP3):c.2342G>A (p.Gly781Asp) rs781180515 0.00005
NM_153240.5(NPHP3):c.2851C>T (p.Arg951Ter) rs148670389 0.00003
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.393+1G>C rs754332448 0.00002
NM_153240.5(NPHP3):c.469del (p.Arg157fs) rs773760404 0.00002
NM_153240.5(NPHP3):c.2171+1G>A rs1280230808 0.00001
NM_153240.5(NPHP3):c.2311-2A>G rs1332659264 0.00001
NM_153240.5(NPHP3):c.2570+1G>T rs1322038132 0.00001
NM_153240.5(NPHP3):c.2805C>T (p.Gly935=) rs1281725083 0.00001
NM_153240.5(NPHP3):c.2918G>A (p.Arg973Gln) rs119456963 0.00001
NM_153240.5(NPHP3):c.2T>C (p.Met1Thr) rs886041990 0.00001
NM_153240.5(NPHP3):c.3287T>C (p.Leu1096Pro) rs777276873 0.00001
NM_153240.5(NPHP3):c.3812+2dup rs774573183 0.00001
NM_153240.5(NPHP3):c.1101_1102insATTTTATTATT (p.His368fs) rs1560014115
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.1468C>T (p.Gln490Ter)
NM_153240.5(NPHP3):c.1675del (p.His559fs) rs1171578361
NM_153240.5(NPHP3):c.1888-13_1913del
NM_153240.5(NPHP3):c.1936_1937del (p.Val646fs)
NM_153240.5(NPHP3):c.1985+1G>A rs1553773271
NM_153240.5(NPHP3):c.1985+5G>A rs754508002
NM_153240.5(NPHP3):c.2369T>C (p.Leu790Pro) rs398124546
NM_153240.5(NPHP3):c.2956dup (p.Gln986fs) rs1560002147
NM_153240.5(NPHP3):c.3201+1G>T
NM_153240.5(NPHP3):c.326T>A (p.Leu109Ter)
NM_153240.5(NPHP3):c.3570+1del
NM_153240.5(NPHP3):c.35del (p.Gly12fs)
NM_153240.5(NPHP3):c.3696_3696+3del rs2530376896
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.544G>T (p.Glu182Ter)
NM_153240.5(NPHP3):c.611dup (p.Ile205fs)
NM_153240.5(NPHP3):c.634dup (p.Glu212fs) rs747052534
NM_153240.5(NPHP3):c.728_729dup (p.Gly244Ter)
NM_153240.5(NPHP3):c.823+1G>T

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