ClinVar Miner

List of variants in gene NPHP4 reported as likely benign by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_015102.5(NPHP4):c.1024C>T (p.Arg342Cys) rs190940697
NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly) rs117898549
NM_015102.5(NPHP4):c.2021G>T (p.Arg674Leu) rs375416303
NM_015102.5(NPHP4):c.2458C>T (p.Arg820Trp) rs200182705
NM_015102.5(NPHP4):c.2519G>A (p.Ser840Asn) rs147588666
NM_015102.5(NPHP4):c.2716C>T (p.Arg906Cys) rs199992272
NM_015102.5(NPHP4):c.3045-5C>T
NM_015102.5(NPHP4):c.3144C>G (p.Ala1048=) rs540738356
NM_015102.5(NPHP4):c.3168C>T (p.His1056=) rs376351293
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val) rs139767853
NM_015102.5(NPHP4):c.3454C>T (p.Pro1152Ser) rs560329867
NM_015102.5(NPHP4):c.3574C>T (p.Arg1192Trp) rs139022622
NM_015102.5(NPHP4):c.3777G>A (p.Arg1259=) rs369566680
NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg) rs115488133
NM_015102.5(NPHP4):c.944C>T (p.Thr315Met) rs200684272

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