ClinVar Miner

List of variants in gene NPHP4 reported as likely benign by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val) rs139767853 0.00374
NM_015102.5(NPHP4):c.3574C>T (p.Arg1192Trp) rs139022622 0.00172
NM_015102.5(NPHP4):c.2519G>A (p.Ser840Asn) rs147588666 0.00147
NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg) rs115488133 0.00124
NM_015102.5(NPHP4):c.3168C>T (p.His1056=) rs376351293 0.00121
NM_015102.5(NPHP4):c.1024C>T (p.Arg342Cys) rs190940697 0.00113
NM_015102.5(NPHP4):c.2458C>T (p.Arg820Trp) rs200182705 0.00067
NM_015102.5(NPHP4):c.3045-5C>T rs2297790 0.00038
NM_015102.5(NPHP4):c.944C>T (p.Thr315Met) rs200684272 0.00033
NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly) rs117898549 0.00020
NM_015102.5(NPHP4):c.2716C>T (p.Arg906Cys) rs199992272 0.00017
NM_015102.5(NPHP4):c.3777G>A (p.Arg1259=) rs369566680 0.00016
NM_015102.5(NPHP4):c.3454C>T (p.Pro1152Ser) rs560329867 0.00001
NM_015102.5(NPHP4):c.2021G>T (p.Arg674Leu) rs375416303
NM_015102.5(NPHP4):c.3144C>G (p.Ala1048=) rs540738356

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