ClinVar Miner

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

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Gene type:
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Total variants: 7
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NM_015102.5(NPHP4):c.1357G>T (p.Glu453Ter) rs1210874691
NM_015102.5(NPHP4):c.189_192del (p.Phe63fs) rs1553200990
NM_015102.5(NPHP4):c.2011C>T (p.Gln671Ter) rs1025515771
NM_015102.5(NPHP4):c.2611+1G>A rs374141736
NM_015102.5(NPHP4):c.2940_2944dup (p.His982fs) rs398124289
NM_015102.5(NPHP4):c.3409_3412del (p.Tyr1137fs) rs762371581
NM_015102.5(NPHP4):c.3618del (p.Asp1208fs) rs1557588167

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