ClinVar Miner

List of variants in gene NPHP4 reported as likely benign by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_015102.5(NPHP4):c.*128A>C rs116747881
NM_015102.5(NPHP4):c.*314T>G rs111874674
NM_015102.5(NPHP4):c.136-4del rs143323188
NM_015102.5(NPHP4):c.1441+13A>G rs7520105
NM_015102.5(NPHP4):c.1470C>T (p.Leu490=) rs12116997
NM_015102.5(NPHP4):c.1490C>G (p.Pro497Arg) rs375051705
NM_015102.5(NPHP4):c.1611+9C>T rs114900019
NM_015102.5(NPHP4):c.1631C>G (p.Ala544Gly) rs12093500
NM_015102.5(NPHP4):c.1926G>A (p.Glu642=) rs12120967
NM_015102.5(NPHP4):c.2031C>T (p.Pro677=) rs34373111
NM_015102.5(NPHP4):c.2219G>A (p.Arg740His) rs34248917
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.2808G>A (p.Thr936=) rs17028857
NM_015102.5(NPHP4):c.2868C>T (p.Ala956=) rs138025088
NM_015102.5(NPHP4):c.2876G>A (p.Arg959Gln) rs12084067
NM_015102.5(NPHP4):c.86C>T (p.Thr29Met) rs12142270

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