ClinVar Miner

List of variants in gene combination NPHP3, NPHP3-ACAD11 reported as pathogenic for not provided

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Gene type:
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Total variants: 17
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HGVS dbSNP
NM_153240.4(NPHP3):c.1888-7_1893delTTTTAAGCAAGTT rs1553773296
NM_153240.5(NPHP3):c.1101_1102insATTTTATTATT (p.His368fs) rs1560014115
NM_153240.5(NPHP3):c.1381G>T (p.Glu461Ter) rs119456961
NM_153240.5(NPHP3):c.1472del (p.Met491fs) rs1215965777
NM_153240.5(NPHP3):c.1729C>T (p.Arg577Ter) rs119456962
NM_153240.5(NPHP3):c.1888-2A>G
NM_153240.5(NPHP3):c.2311-2A>G rs1332659264
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253
NM_153240.5(NPHP3):c.273del (p.Glu90_Tyr91insTer) rs758558609
NM_153240.5(NPHP3):c.2994G>A (p.Trp998Ter) rs794727349
NM_153240.5(NPHP3):c.2T>C (p.Met1Thr) rs886041990
NM_153240.5(NPHP3):c.3345dup (p.Leu1116fs) rs1553771818
NM_153240.5(NPHP3):c.3373C>T (p.Arg1125Ter) rs368138001
NM_153240.5(NPHP3):c.3570+2T>A rs1553771772
NM_153240.5(NPHP3):c.406del (p.Thr136fs) rs1379989124
NM_153240.5(NPHP3):c.430_433AAAG[1] (p.Glu145fs) rs763300393
NM_153240.5(NPHP3):c.634dup (p.Glu212fs) rs747052534

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