ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP
NM_015102.5(NPHP4):c.1089G>T (p.Val363=) rs201464887
NM_015102.5(NPHP4):c.1441+13A>G rs7520105
NM_015102.5(NPHP4):c.1442-7C>T rs146078470
NM_015102.5(NPHP4):c.1611+9C>T rs114900019
NM_015102.5(NPHP4):c.1622C>T (p.Pro541Leu) rs145255635
NM_015102.5(NPHP4):c.1926G>A (p.Glu642=) rs12120967
NM_015102.5(NPHP4):c.1966G>A (p.Asp656Asn) rs191602135
NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn) rs148424288
NM_015102.5(NPHP4):c.2293G>A (p.Val765Ile) rs149244006
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp) rs17472401
NM_015102.5(NPHP4):c.2557G>T (p.Asp853Tyr) rs199875059
NM_015102.5(NPHP4):c.2643G>A (p.Ala881=) rs3747990
NM_015102.5(NPHP4):c.2724G>A (p.Ser908=) rs114545322
NM_015102.5(NPHP4):c.279+47T>G rs115690090
NM_015102.5(NPHP4):c.2802C>T (p.Arg934=) rs3747992
NM_015102.5(NPHP4):c.2808G>A (p.Thr936=) rs17028857
NM_015102.5(NPHP4):c.2812G>A (p.Val938Met) rs184961418
NM_015102.5(NPHP4):c.2818-2= rs1217117155
NM_015102.5(NPHP4):c.2868C>T (p.Ala956=) rs138025088
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His) rs183885357
NM_015102.5(NPHP4):c.2914A>G (p.Ser972Gly) rs187947581
NM_015102.5(NPHP4):c.3036C>T (p.Pro1012=) rs34265978
NM_015102.5(NPHP4):c.3243G>C (p.Gly1081=) rs41280800
NM_015102.5(NPHP4):c.3570A>G (p.Glu1190=) rs555164
NM_015102.5(NPHP4):c.3674C>T (p.Thr1225Met) rs144624477
NM_015102.5(NPHP4):c.3876C>T (p.Gly1292=) rs115526767
NM_015102.5(NPHP4):c.4179T>A (p.Phe1393Leu) rs35641267
NM_015102.5(NPHP4):c.453-27G>A rs200754878

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