ClinVar Miner

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

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 71
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HGVS dbSNP
NM_153240.4(NPHP3):c.-69A>G rs13099099
NM_153240.4(NPHP3):c.-77_-50del28 rs781381515
NM_153240.5(NPHP3):c.-49G>A
NM_153240.5(NPHP3):c.105G>A (p.Lys35=) rs377060857
NM_153240.5(NPHP3):c.1082C>G (p.Ser361Cys) rs146250226
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser) rs142021049
NM_153240.5(NPHP3):c.1189C>T (p.Arg397Cys) rs141477666
NM_153240.5(NPHP3):c.1276-122T>C
NM_153240.5(NPHP3):c.1525-211A>G
NM_153240.5(NPHP3):c.1525-313A>G
NM_153240.5(NPHP3):c.1525-316A>G
NM_153240.5(NPHP3):c.1525-5del rs762115717
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112
NM_153240.5(NPHP3):c.1629-17C>A rs145056102
NM_153240.5(NPHP3):c.169_174dup (p.Pro57_Gly58dup) rs1553775768
NM_153240.5(NPHP3):c.1887+6G>A rs79113972
NM_153240.5(NPHP3):c.189G>A (p.Gly63=) rs750280281
NM_153240.5(NPHP3):c.1986-165_1986-164insTGAG
NM_153240.5(NPHP3):c.1986G>A (p.Arg662=) rs77533254
NM_153240.5(NPHP3):c.2089-9C>T rs141397228
NM_153240.5(NPHP3):c.2171+151A>G
NM_153240.5(NPHP3):c.2171G>A (p.Arg724His) rs1064797063
NM_153240.5(NPHP3):c.2172-132T>G
NM_153240.5(NPHP3):c.2172-187A>G
NM_153240.5(NPHP3):c.233G>T (p.Gly78Val) rs202142404
NM_153240.5(NPHP3):c.2476-72T>C
NM_153240.5(NPHP3):c.2476-84A>G
NM_153240.5(NPHP3):c.255G>A (p.Glu85=) rs146839563
NM_153240.5(NPHP3):c.2571-103G>T
NM_153240.5(NPHP3):c.2571-7T>C rs62292468
NM_153240.5(NPHP3):c.2610G>A (p.Pro870=) rs16839515
NM_153240.5(NPHP3):c.2693+17A>G rs200046908
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253
NM_153240.5(NPHP3):c.2769C>T (p.Phe923=) rs116174472
NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu) rs144989330
NM_153240.5(NPHP3):c.2883+13G>C rs112375565
NM_153240.5(NPHP3):c.2931A>G (p.Leu977=) rs146316936
NM_153240.5(NPHP3):c.2T>C (p.Met1Thr) rs886041990
NM_153240.5(NPHP3):c.306C>T (p.Arg102=) rs762134618
NM_153240.5(NPHP3):c.3093A>G (p.Glu1031=) rs112300370
NM_153240.5(NPHP3):c.3125+7dup rs11396595
NM_153240.5(NPHP3):c.3126-276A>G
NM_153240.5(NPHP3):c.3189A>G (p.Lys1063=) rs112386774
NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=) rs11915053
NM_153240.5(NPHP3):c.3345dup (p.Leu1116fs) rs1553771818
NM_153240.5(NPHP3):c.3422T>C (p.Leu1141Pro) rs1057521090
NM_153240.5(NPHP3):c.3500G>A (p.Arg1167His) rs111727307
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr) rs34391943
NM_153240.5(NPHP3):c.3570+9G>T rs112749193
NM_153240.5(NPHP3):c.3592C>T (p.Pro1198Ser) rs550670844
NM_153240.5(NPHP3):c.3663C>T (p.Ala1221=) rs112144165
NM_153240.5(NPHP3):c.3664T>C (p.Leu1222=) rs142616619
NM_153240.5(NPHP3):c.3697-7del rs564013823
NM_153240.5(NPHP3):c.3717G>A (p.Leu1239=) rs146759786
NM_153240.5(NPHP3):c.3759G>A (p.Leu1253=) rs6794496
NM_153240.5(NPHP3):c.3812+126C>T
NM_153240.5(NPHP3):c.3812+290T>C
NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys) rs35485382
NM_153240.5(NPHP3):c.393+18C>T rs367765709
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802
NM_153240.5(NPHP3):c.3971T>C (p.Phe1324Ser) rs113364886
NM_153240.5(NPHP3):c.408G>A (p.Thr136=) rs141410951
NM_153240.5(NPHP3):c.447_471dup (p.Ala158fs) rs1553775392
NM_153240.5(NPHP3):c.449C>T (p.Ala150Val) rs142663818
NM_153240.5(NPHP3):c.450G>A (p.Ala150=) rs78527322
NM_153240.5(NPHP3):c.520-10C>G rs200144727
NM_153240.5(NPHP3):c.57G>C (p.Thr19=) rs192633696
NM_153240.5(NPHP3):c.824-89A>G
NM_153240.5(NPHP3):c.824-94A>G
NM_153240.5(NPHP3):c.864T>A (p.Thr288=) rs147932449
NM_153240.5(NPHP3):c.921A>G (p.Thr307=) rs368874413

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