ClinVar Miner

List of variants in gene combination NPHP3, NPHP3-ACAD11 reported as likely benign for Renal-hepatic-pancreatic dysplasia 1

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_153240.5(NPHP3):c.1986G>A (p.Arg662=) rs77533254 0.01496
NM_153240.5(NPHP3):c.2089-9C>T rs141397228 0.00404
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser) rs142021049 0.00211
NM_153240.5(NPHP3):c.*1020T>C rs186828918 0.00120
NM_153240.5(NPHP3):c.*1176G>A rs183658380 0.00063
NM_153240.5(NPHP3):c.*926C>T rs570076170 0.00063
NM_153240.5(NPHP3):c.1853T>C (p.Ile618Thr) rs139730838

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