ClinVar Miner

List of variants studied for Nephronophthisis-like nephropathy 1 by Invitae

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Total variants: 98
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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.590-9C>T rs149370388 0.00467
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.1477C>G (p.Pro493Ala) rs146023695 0.00155
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.1244G>A (p.Arg415Gln) rs79385822 0.00051
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.1516G>A (p.Ala506Thr) rs139592817 0.00012
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.1313G>A (p.Arg438His) rs766361465 0.00007
NM_022098.4(XPNPEP3):c.263A>G (p.Gln88Arg) rs753043524 0.00007
NM_022098.4(XPNPEP3):c.119G>A (p.Arg40Lys) rs761750025 0.00005
NM_022098.4(XPNPEP3):c.856-2A>G rs149609214 0.00005
NM_022098.4(XPNPEP3):c.1049A>G (p.Asn350Ser) rs768828532 0.00004
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.891T>G (p.Ile297Met) rs746834434 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.1259A>G (p.His420Arg) rs952458657 0.00001
NM_022098.4(XPNPEP3):c.218C>T (p.Ala73Val) rs747953049 0.00001
NM_022098.4(XPNPEP3):c.271A>G (p.Ser91Gly) rs761097517 0.00001
NM_022098.4(XPNPEP3):c.272G>A (p.Ser91Asn) rs1017989325 0.00001
NM_022098.4(XPNPEP3):c.47A>T (p.Asn16Ile) rs893424638 0.00001
NM_022098.4(XPNPEP3):c.969+5G>A rs764558082 0.00001
NC_000022.10:g.(?_41264983)_(41729217_?)dup
NC_000022.10:g.(?_41277754)_(41278201_?)del
NC_000022.10:g.(?_41282297)_(41282539_?)del
NM_022098.4(XPNPEP3):c.1055+15G>A rs5995965
NM_022098.4(XPNPEP3):c.1055+2T>G rs769010051
NM_022098.4(XPNPEP3):c.1056-5C>G
NM_022098.4(XPNPEP3):c.1056-8G>A
NM_022098.4(XPNPEP3):c.1077A>G (p.Glu359=)
NM_022098.4(XPNPEP3):c.1093C>G (p.Leu365Val)
NM_022098.4(XPNPEP3):c.1122C>T (p.Leu374=) rs761504767
NM_022098.4(XPNPEP3):c.1182G>A (p.Gln394=)
NM_022098.4(XPNPEP3):c.1187T>A (p.Leu396His)
NM_022098.4(XPNPEP3):c.1236+8_1236+12del rs759227329
NM_022098.4(XPNPEP3):c.1237-10T>C
NM_022098.4(XPNPEP3):c.1261C>G (p.His421Asp)
NM_022098.4(XPNPEP3):c.1296C>T (p.Asp432=) rs1601522952
NM_022098.4(XPNPEP3):c.1314T>A (p.Arg438=)
NM_022098.4(XPNPEP3):c.1363T>C (p.Tyr455His)
NM_022098.4(XPNPEP3):c.1379A>G (p.Asp460Gly)
NM_022098.4(XPNPEP3):c.1402C>T (p.Arg468Trp)
NM_022098.4(XPNPEP3):c.1427A>C (p.Asp476Ala)
NM_022098.4(XPNPEP3):c.1449C>T (p.Asp483=)
NM_022098.4(XPNPEP3):c.1450T>C (p.Ser484Pro)
NM_022098.4(XPNPEP3):c.1483G>A (p.Glu495Lys)
NM_022098.4(XPNPEP3):c.1488G>T (p.Met496Ile)
NM_022098.4(XPNPEP3):c.1511G>A (p.Ser504Asn) rs2146283516
NM_022098.4(XPNPEP3):c.182-3T>C
NM_022098.4(XPNPEP3):c.183G>A (p.Gly61=) rs2146250112
NM_022098.4(XPNPEP3):c.250C>T (p.Gln84Ter)
NM_022098.4(XPNPEP3):c.287C>T (p.Thr96Ile)
NM_022098.4(XPNPEP3):c.289G>A (p.Val97Met)
NM_022098.4(XPNPEP3):c.292G>A (p.Val98Ile)
NM_022098.4(XPNPEP3):c.297G>A (p.Val99=) rs1234430672
NM_022098.4(XPNPEP3):c.349C>G (p.Gln117Glu) rs2146250280
NM_022098.4(XPNPEP3):c.375T>C (p.Cys125=)
NM_022098.4(XPNPEP3):c.393T>C (p.Asp131=)
NM_022098.4(XPNPEP3):c.440A>C (p.His147Pro)
NM_022098.4(XPNPEP3):c.462T>G (p.Pro154=)
NM_022098.4(XPNPEP3):c.463C>T (p.Arg155Trp)
NM_022098.4(XPNPEP3):c.51C>T (p.Val17=)
NM_022098.4(XPNPEP3):c.567A>G (p.Gln189=)
NM_022098.4(XPNPEP3):c.615C>T (p.Asp205=)
NM_022098.4(XPNPEP3):c.64+5G>C
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.700C>T (p.Arg234Trp)
NM_022098.4(XPNPEP3):c.725G>T (p.Arg242Leu)
NM_022098.4(XPNPEP3):c.740A>G (p.Lys247Arg)
NM_022098.4(XPNPEP3):c.761G>A (p.Arg254Gln)
NM_022098.4(XPNPEP3):c.761G>T (p.Arg254Leu)
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.85C>T (p.Arg29Ter) rs373917063
NM_022098.4(XPNPEP3):c.882C>T (p.Gly294=)
NM_022098.4(XPNPEP3):c.926G>A (p.Arg309Gln)
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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