ClinVar Miner

List of variants in gene NPHP4 reported as pathogenic for Senior-Loken syndrome 4

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_015102.5(NPHP4):c.1972C>T (p.Arg658Ter) rs137852923
NM_015102.5(NPHP4):c.2335C>T (p.Gln779Ter) rs137852922

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