ClinVar Miner

List of variants reported as benign for Nephronophthisis 4 by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_015102.5(NPHP4):c.2802C>T (p.Arg934=) rs3747992 0.36928
NM_015102.5(NPHP4):c.3570A>G (p.Glu1190=) rs555164 0.35094
NM_015102.5(NPHP4):c.1441+13A>G rs7520105 0.17476
NM_015102.5(NPHP4):c.2643G>A (p.Ala881=) rs3747990 0.11763
NM_015102.5(NPHP4):c.1926G>A (p.Glu642=) rs12120967 0.11732
NM_015102.5(NPHP4):c.1470C>T (p.Leu490=) rs12116997 0.04804
NM_015102.5(NPHP4):c.86C>T (p.Thr29Met) rs12142270 0.04382
NM_015102.5(NPHP4):c.2724G>A (p.Ser908=) rs114545322 0.03032
NM_015102.5(NPHP4):c.2219G>A (p.Arg740His) rs34248917 0.02256
NM_015102.5(NPHP4):c.*314T>G rs111874674 0.02020
NM_015102.5(NPHP4):c.3243G>C (p.Gly1081=) rs41280800 0.01658
NM_015102.5(NPHP4):c.1611+9C>T rs114900019 0.01637
NM_015102.5(NPHP4):c.2808G>A (p.Thr936=) rs17028857 0.01235
NM_015102.5(NPHP4):c.*128A>C rs116747881 0.01171
NM_015102.5(NPHP4):c.3479C>T (p.Pro1160Leu) rs113445782 0.01143
NM_015102.5(NPHP4):c.2031C>T (p.Pro677=) rs34373111 0.01102
NM_015102.5(NPHP4):c.1852G>A (p.Glu618Lys) rs571655 0.01009
NM_015102.5(NPHP4):c.3876C>T (p.Gly1292=) rs115526767 0.00982
NM_015102.5(NPHP4):c.1542G>A (p.Pro514=) rs35264155 0.00677
NM_015102.5(NPHP4):c.1442-7C>T rs146078470 0.00599
NM_015102.5(NPHP4):c.3674C>T (p.Thr1225Met) rs144624477 0.00576
NM_015102.5(NPHP4):c.3894C>T (p.Ala1298=) rs60094861 0.00477
NM_015102.5(NPHP4):c.1705C>G (p.Gln569Glu) rs113413307 0.00443
NM_015102.5(NPHP4):c.279+11G>A rs113902159 0.00401
NM_015102.5(NPHP4):c.2868C>T (p.Ala956=) rs138025088 0.00188
NM_015102.5(NPHP4):c.1966G>A (p.Asp656Asn) rs191602135 0.00050
NM_015102.5(NPHP4):c.2716C>T (p.Arg906Cys) rs199992272 0.00017
NM_015102.5(NPHP4):c.1490C>G (p.Pro497Arg) rs375051705 0.00006

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