ClinVar Miner

List of variants in gene NPHP4 reported by GeneDx

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Total variants: 9
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HGVS dbSNP
NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly) rs117898549
NM_015102.5(NPHP4):c.133C>T (p.Gln45Ter)
NM_015102.5(NPHP4):c.1421_1423delinsCGTGG (p.Lys474fs) rs1553178047
NM_015102.5(NPHP4):c.2203C>T (p.Arg735Trp) rs191913664
NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu) rs201065230
NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys) rs116606479
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val) rs139767853
NM_015102.5(NPHP4):c.3526G>A (p.Asp1176Asn) rs893677386
NM_015102.5(NPHP4):c.3853G>C (p.Gly1285Arg) rs537859714

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