ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_153240.5(NPHP3):c.2563C>T (p.Gln855Ter) rs201237799 0.00002
NM_153240.5(NPHP3):c.430A>G (p.Lys144Glu) rs745342273 0.00001
NM_153240.5(NPHP3):c.1985+5G>A rs754508002
NM_153240.5(NPHP3):c.447_471dup (p.Ala158fs) rs1553775392

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