ClinVar Miner

List of variants in gene combination NPHP3, NPHP3-ACAD11 reported as pathogenic for Renal-hepatic-pancreatic dysplasia

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Total variants: 6
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HGVS dbSNP
NM_153240.4(NPHP3):c.1729C>T (p.Arg577Ter) rs119456962
NM_153240.4(NPHP3):c.1985+5G>A
NM_153240.4(NPHP3):c.2694-2_2694-1delAG rs751527253
NM_153240.4(NPHP3):c.273delC (p.Tyr91Terfs) rs758558609
NM_153240.4(NPHP3):c.2918G>A (p.Arg973Gln) rs119456963
NM_153240.4(NPHP3):c.3340C>T (p.Gln1114Ter) rs119456964

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