ClinVar Miner

List of variants in gene NPHP4 reported as likely pathogenic by Gharavi Laboratory,Columbia University

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Total variants: 4
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NM_015102.5(NPHP4):c.1149_1150insCC (p.Ala384fs) rs1557768696
NM_015102.5(NPHP4):c.1889_1892del (p.Pro630fs) rs1368105372
NM_015102.5(NPHP4):c.2579G>A (p.Gly860Glu) rs1487910110
NM_015102.5(NPHP4):c.3930_3939del (p.Asp1311fs) rs1557580413

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