ClinVar Miner

List of variants in gene NPHP4 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His) rs183885357 0.00200
NM_015102.5(NPHP4):c.3859C>G (p.Gln1287Glu) rs201779243 0.00034
NM_015102.5(NPHP4):c.2939C>T (p.Thr980Met) rs199645515 0.00006
NM_015102.5(NPHP4):c.1880C>T (p.Thr627Met) rs199891059 0.00001
NM_015102.5(NPHP4):c.1102G>A (p.Ala368Thr)

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