ClinVar Miner

List of variants reported as likely benign for Nephronophthisis-like nephropathy 1 by Invitae

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Total variants: 45
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HGVS dbSNP gnomAD frequency
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.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.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.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.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.567A>G (p.Gln189=)
NM_022098.4(XPNPEP3):c.615C>T (p.Asp205=)
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

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