ClinVar Miner

List of variants in gene combination NPHP3, NPHP3-ACAD11 reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_153240.5(NPHP3):c.3812+126C>T rs6792074 0.41528
NM_153240.5(NPHP3):c.2172-132T>G rs10804612 0.40031
NM_153240.5(NPHP3):c.671-70G>A rs11718115 0.38727
NM_153240.5(NPHP3):c.519+248A>G rs3860503 0.21326
NM_153240.5(NPHP3):c.394-45A>G rs12631786 0.19778
NM_153240.5(NPHP3):c.520-111G>A rs3860502 0.19179
NM_153240.5(NPHP3):c.823+69G>A rs67092166 0.17979
NM_153240.5(NPHP3):c.1118+257G>A rs1479103 0.17968
NM_153240.5(NPHP3):c.671-118T>C rs72628561 0.14562
NM_153240.5(NPHP3):c.3759G>A (p.Leu1253=) rs6794496 0.13621
NM_153240.5(NPHP3):c.2172-187A>G rs10935028 0.12103
NM_153240.5(NPHP3):c.3812+290T>C rs11925495 0.09215
NM_153240.5(NPHP3):c.2476-84A>G rs2271490 0.09160
NM_153240.5(NPHP3):c.2571-103G>T rs62292469 0.09060
NM_153240.5(NPHP3):c.1276-122T>C rs3860501 0.08681
NM_153240.5(NPHP3):c.2172-78G>A rs79047540 0.07434
NM_153240.5(NPHP3):c.2089-194C>G rs77577514 0.07429
NM_153240.5(NPHP3):c.2171+151A>G rs76177059 0.06173
NM_153240.5(NPHP3):c.824-89A>G rs6765919 0.05850
NM_153240.5(NPHP3):c.1525-128dup rs145823343 0.05351
NM_153240.5(NPHP3):c.3697-151C>G rs73220112 0.04433
NM_153240.5(NPHP3):c.3202-106A>G rs73002503 0.04347
NM_153240.5(NPHP3):c.2610G>A (p.Pro870=) rs16839515 0.04323
NM_153240.5(NPHP3):c.1628+300_1628+301dup rs144360134 0.03923
NM_153240.5(NPHP3):c.*266G>A rs11708200 0.03396
NM_153240.5(NPHP3):c.*657C>T rs79224795 0.03141
NM_153240.5(NPHP3):c.3812+117T>C rs74504982 0.03053
NM_153240.5(NPHP3):c.2571-7T>C rs62292468 0.02974
NM_153240.5(NPHP3):c.1350+120G>A rs79953884 0.02530
NM_153240.5(NPHP3):c.*785G>A rs6774366 0.02518
NM_153240.5(NPHP3):c.1525-316A>G rs11717312 0.02368
NM_153240.5(NPHP3):c.1525-313A>G rs11717311 0.02349
NM_153240.5(NPHP3):c.1351-228T>G rs73863711 0.01844
NM_153240.5(NPHP3):c.864T>A (p.Thr288=) rs147932449 0.01825
NM_153240.5(NPHP3):c.1743+27C>G rs73863710 0.01775
NM_153240.5(NPHP3):c.1744-99T>C rs73863708 0.01773
NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys) rs35485382 0.01709
NM_153240.5(NPHP3):c.1986G>A (p.Arg662=) rs77533254 0.01496
NM_153240.5(NPHP3):c.450G>A (p.Ala150=) rs78527322 0.00906
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr) rs34391943 0.00744
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802 0.00658
NM_153240.5(NPHP3):c.1887+6G>A rs79113972 0.00654
NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=) rs11915053 0.00629
NM_153240.5(NPHP3):c.2089-9C>T rs141397228 0.00404
NM_153240.5(NPHP3):c.*650_*651del rs886058000
NM_153240.5(NPHP3):c.*651del rs886058000
NM_153240.5(NPHP3):c.*651dup rs886058000
NM_153240.5(NPHP3):c.1276-271G>A rs9842176
NM_153240.5(NPHP3):c.1986-165_1986-164insTGAG rs10670383
NM_153240.5(NPHP3):c.2172-66C>T rs12633369
NM_153240.5(NPHP3):c.2476-72T>C rs2271491
NM_153240.5(NPHP3):c.2693+295G>A rs74660833
NM_153240.5(NPHP3):c.3125+7dup rs11396595
NM_153240.5(NPHP3):c.3126-4del rs398124547
NM_153240.5(NPHP3):c.3329+198dup rs374302036
NM_153240.5(NPHP3):c.3571-112dup rs200443262
NM_153240.5(NPHP3):c.3697-7del rs564013823
NM_153240.5(NPHP3):c.394-89AT[7] rs10590809
NM_153240.5(NPHP3):c.394-89AT[9] rs10590809
NM_153240.5(NPHP3):c.824-94A>G rs17414558

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