ClinVar Miner

List of variants reported as uncertain significance for Nephronophthisis-like nephropathy 1 by Invitae

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_022098.4(XPNPEP3):c.1244G>A (p.Arg415Gln) rs79385822 0.00051
NM_022098.4(XPNPEP3):c.1516G>A (p.Ala506Thr) rs139592817 0.00012
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.1049A>G (p.Asn350Ser) rs768828532 0.00004
NM_022098.4(XPNPEP3):c.891T>G (p.Ile297Met) rs746834434 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
NM_022098.4(XPNPEP3):c.1093C>G (p.Leu365Val)
NM_022098.4(XPNPEP3):c.1187T>A (p.Leu396His)
NM_022098.4(XPNPEP3):c.1261C>G (p.His421Asp)
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.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.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.349C>G (p.Gln117Glu) rs2146250280
NM_022098.4(XPNPEP3):c.440A>C (p.His147Pro)
NM_022098.4(XPNPEP3):c.463C>T (p.Arg155Trp)
NM_022098.4(XPNPEP3):c.64+5G>C
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.926G>A (p.Arg309Gln)

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