ClinVar Miner

List of variants reported as likely benign for Nephrotic syndrome, type 3 by Illumina Laboratory Services, Illumina

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_016341.4(PLCE1):c.5669C>T (p.Pro1890Leu) rs58539480 0.01296
NM_016341.4(PLCE1):c.-287G>A rs17506379 0.00415
NM_016341.4(PLCE1):c.-165T>C rs183919560 0.00397
NM_016341.4(PLCE1):c.2728G>A (p.Val910Ile) rs61751497 0.00284
NM_016341.4(PLCE1):c.2428A>G (p.Ile810Val) rs78217273 0.00251
NM_016341.4(PLCE1):c.-47A>G rs11187771 0.00223
NM_016341.4(PLCE1):c.2157C>T (p.Gly719=) rs200164874 0.00208
NM_016341.4(PLCE1):c.1495C>T (p.Arg499Cys) rs61751493 0.00134
NM_016341.4(PLCE1):c.*268T>C rs146319051 0.00031
NM_016341.4(PLCE1):c.-160G>A rs186468483 0.00029
NM_016341.4(PLCE1):c.*220T>G rs184484950 0.00010
NM_016341.4(PLCE1):c.1313T>C (p.Val438Ala) rs199689540 0.00010
NM_016341.4(PLCE1):c.5979T>C (p.Ser1993=) rs200943442 0.00009
NM_016341.4(PLCE1):c.1228G>A (p.Glu410Lys) rs145451189 0.00006
NM_016341.4(PLCE1):c.5168-6G>C rs148239915

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