ClinVar Miner

List of variants in gene NPHP4 reported as uncertain significance by Gharavi Laboratory,Columbia University

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Total variants: 5
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HGVS dbSNP
NM_015102.5(NPHP4):c.1046T>G (p.Val349Gly) rs1557804355
NM_015102.5(NPHP4):c.1985G>A (p.Trp662Ter) rs1557697311
NM_015102.5(NPHP4):c.2858_2859del (p.Gln953fs) rs1557619525
NM_015102.5(NPHP4):c.287A>G (p.Tyr96Cys) rs1557860994
NM_015102.5(NPHP4):c.3082_3083delinsCT (p.Gly1028Leu) rs1557616029

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