ClinVar Miner

List of variants in gene XPNPEP3 reported as likely benign for Nephronophthisis-like nephropathy 1

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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_022098.4(XPNPEP3):c.111A>G (p.Pro37=) rs1894658 0.01750
NM_022098.4(XPNPEP3):c.*2762T>C rs181614337 0.01298
NM_022098.4(XPNPEP3):c.*6179G>A rs149909864 0.00253
NM_022098.4(XPNPEP3):c.*4530C>T rs190920816 0.00250
NM_022098.4(XPNPEP3):c.*5445G>A rs150740494 0.00243
NM_022098.4(XPNPEP3):c.*1531A>G rs145932052 0.00233
NM_022098.4(XPNPEP3):c.*5547C>G rs191415641 0.00224
NM_022098.4(XPNPEP3):c.*531T>G rs564294482 0.00197
NM_022098.4(XPNPEP3):c.1056-9C>T rs116758113 0.00160
NM_022098.4(XPNPEP3):c.590-8A>G rs143719656 0.00156
NM_022098.4(XPNPEP3):c.817A>G (p.Ser273Gly) rs138501598 0.00085
NM_022098.4(XPNPEP3):c.63A>G (p.Ser21=) rs139991468 0.00072
NM_022098.4(XPNPEP3):c.970-9T>C rs117568682 0.00066
NM_022098.4(XPNPEP3):c.1357+19A>G rs139881907 0.00024
NM_022098.4(XPNPEP3):c.793-18C>T rs201917593 0.00021
NM_022098.4(XPNPEP3):c.597G>A (p.Thr199=) rs151167805 0.00019
NM_022098.4(XPNPEP3):c.366G>A (p.Leu122=) rs201469402 0.00017
NM_022098.4(XPNPEP3):c.*2649A>G rs554227485 0.00014
NM_022098.4(XPNPEP3):c.718A>T (p.Ile240Leu) rs137859412 0.00012
NM_022098.4(XPNPEP3):c.1173G>C (p.Leu391=) rs374128745 0.00009
NM_022098.4(XPNPEP3):c.388C>G (p.Pro130Ala) rs199693203 0.00009
NM_022098.4(XPNPEP3):c.792+13T>C rs376777685 0.00009
NM_022098.4(XPNPEP3):c.1188T>C (p.Leu396=) rs146309087 0.00003
NM_022098.4(XPNPEP3):c.612T>C (p.Tyr204=) rs752306590 0.00002
NM_022098.4(XPNPEP3):c.933C>T (p.Asn311=) rs763093642 0.00002
NM_022098.4(XPNPEP3):c.963C>T (p.Leu321=) rs759612541 0.00002
NM_022098.4(XPNPEP3):c.970-4C>T rs752602313 0.00002
NM_022098.4(XPNPEP3):c.*390A>G rs142395135
NM_022098.4(XPNPEP3):c.*6178C>G rs193116004
NM_022098.4(XPNPEP3):c.1055+15G>C
NM_022098.4(XPNPEP3):c.1056-5C>G
NM_022098.4(XPNPEP3):c.1056-5C>T
NM_022098.4(XPNPEP3):c.1056-8G>A
NM_022098.4(XPNPEP3):c.1077A>G (p.Glu359=)
NM_022098.4(XPNPEP3):c.1122C>T (p.Leu374=) rs761504767
NM_022098.4(XPNPEP3):c.1182G>A (p.Gln394=)
NM_022098.4(XPNPEP3):c.1236+8_1236+12del rs759227329
NM_022098.4(XPNPEP3):c.1237-10T>C
NM_022098.4(XPNPEP3):c.1296C>T (p.Asp432=) rs1601522952
NM_022098.4(XPNPEP3):c.1314T>A (p.Arg438=)
NM_022098.4(XPNPEP3):c.1449C>T (p.Asp483=)
NM_022098.4(XPNPEP3):c.183G>A (p.Gly61=) rs2146250112
NM_022098.4(XPNPEP3):c.297G>A (p.Val99=) rs1234430672
NM_022098.4(XPNPEP3):c.375T>C (p.Cys125=)
NM_022098.4(XPNPEP3):c.393T>C (p.Asp131=)
NM_022098.4(XPNPEP3):c.462T>G (p.Pro154=)
NM_022098.4(XPNPEP3):c.51C>T (p.Val17=)
NM_022098.4(XPNPEP3):c.540C>T (p.Asp180=)
NM_022098.4(XPNPEP3):c.567A>G (p.Gln189=)
NM_022098.4(XPNPEP3):c.582A>C (p.Lys194Asn)
NM_022098.4(XPNPEP3):c.60C>T (p.Leu20=)
NM_022098.4(XPNPEP3):c.615C>T (p.Asp205=)
NM_022098.4(XPNPEP3):c.627C>T (p.Pro209=)
NM_022098.4(XPNPEP3):c.64+9C>A
NM_022098.4(XPNPEP3):c.65-10C>T
NM_022098.4(XPNPEP3):c.65-17C>T
NM_022098.4(XPNPEP3):c.774T>C (p.Ala258=)
NM_022098.4(XPNPEP3):c.792+19A>G
NM_022098.4(XPNPEP3):c.793-19T>G
NM_022098.4(XPNPEP3):c.855+11G>A
NM_022098.4(XPNPEP3):c.856-14G>A
NM_022098.4(XPNPEP3):c.882C>T (p.Gly294=)
NM_022098.4(XPNPEP3):c.969+13C>G
NM_022098.4(XPNPEP3):c.969+17C>T
NM_022098.4(XPNPEP3):c.970-18T>A
NM_022098.4(XPNPEP3):c.970-8T>C rs547747361

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