ClinVar Miner

List of variants in gene combination NPHP3, NPHP3-ACAD11 reported as uncertain significance for Meckel-Gruber syndrome

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Total variants: 12
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HGVS dbSNP
NM_153240.4(NPHP3):c.-70C>T rs886058006
NM_153240.5(NPHP3):c.*121_*123del rs371974858
NM_153240.5(NPHP3):c.*231A>T rs753577987
NM_153240.5(NPHP3):c.*650_*651del rs886058000
NM_153240.5(NPHP3):c.*652_*653del rs886057999
NM_153240.5(NPHP3):c.*652del rs369921629
NM_153240.5(NPHP3):c.*654dup rs886057998
NM_153240.5(NPHP3):c.1525-5del rs762115717
NM_153240.5(NPHP3):c.1813C>T (p.Arg605Cys) rs144731534
NM_153240.5(NPHP3):c.233G>T (p.Gly78Val) rs202142404
NM_153240.5(NPHP3):c.3126-12dup rs398124547
NM_153240.5(NPHP3):c.913A>G (p.Ile305Val) rs886058004

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