ClinVar Miner

List of variants reported as likely pathogenic for Nephrotic syndrome by Yale Center for Mendelian Genomics, Yale University

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Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_181712.5(KANK4):c.2401T>C (p.Tyr801His) rs145623004 0.00133
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_005245.4(FAT1):c.5671C>A (p.Pro1891Thr) rs185078412 0.00015
NM_014669.5(NUP93):c.1772G>T (p.Gly591Val) rs145473779 0.00014
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033 0.00013
NM_014669.5(NUP93):c.575A>G (p.Tyr192Cys) rs201924382 0.00013
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter) rs267606919 0.00010
NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser) rs121918232 0.00009
NM_024753.5(TTC21B):c.2569G>A (p.Ala857Thr) rs190101048 0.00005
NM_005245.4(FAT1):c.857A>G (p.Asn286Ser) rs201488687 0.00004
NM_004646.4(NPHS1):c.2728T>C (p.Ser910Pro) rs143649022 0.00003
NM_017752.3(TBC1D8B):c.1030C>T (p.Arg344Ter) rs749688361 0.00003
NM_002292.4(LAMB2):c.395C>T (p.Ala132Val) rs766482429 0.00002
NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln) rs386833880 0.00002
NM_020381.4(PDSS2):c.1145C>T (p.Ser382Leu) rs118203956 0.00002
NM_032856.5(WDR73):c.703C>T (p.Gln235Ter) rs797044992 0.00002
NM_002292.4(LAMB2):c.1731+1G>A rs755787013 0.00001
NM_002292.4(LAMB2):c.4573C>T (p.Gln1525Ter) rs376983109 0.00001
NM_002292.4(LAMB2):c.736C>T (p.Arg246Trp) rs121912488 0.00001
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro) rs386833863 0.00001
NM_005245.4(FAT1):c.3008C>T (p.Ala1003Val) rs369363545 0.00001
NM_005245.4(FAT1):c.4517G>A (p.Arg1506His) rs570583897 0.00001
NM_014140.4(SMARCAL1):c.1756C>T (p.Arg586Trp) rs119473038 0.00001
NM_014140.4(SMARCAL1):c.2290C>T (p.Arg764Trp) rs1480919035 0.00001
NM_014669.5(NUP93):c.2017C>T (p.Arg673Trp) rs1166462755 0.00001
NM_212482.4(FN1):c.7379T>C (p.Ile2460Thr) rs2053446114 0.00001
NM_000030.3(AGXT):c.33dup (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.863G>A (p.Trp288Ter) rs2106431706
NM_000169.3(GLA):c.504A>C (p.Lys168Asn) rs2147477422
NM_001174147.2(LMX1B):c.737G>A (p.Arg246Gln) rs1191455921
NM_001358921.2(COQ2):c.26dup (p.Ala10fs) rs1198292264
NM_002204.4(ITGA3):c.1883G>C (p.Arg628Pro) rs140781106
NM_002204.4(ITGA3):c.2593del (p.Asp865fs) rs2144304926
NM_002292.4(LAMB2):c.143A>C (p.Tyr48Ser) rs776905329
NM_002292.4(LAMB2):c.4537C>T (p.Gln1513Ter) rs2107636063
NM_003647.3(DGKE):c.610del (p.Thr204fs) rs147972030
NM_003901.4(SGPL1):c.1037G>T (p.Ser346Ile) rs1131692256
NM_003901.4(SGPL1):c.665G>A (p.Arg222Gln) rs769259446
NM_004621.6(TRPC6):c.523C>T (p.Arg175Trp) rs869025541
NM_004646.4(NPHS1):c.139del (p.Ala47fs) rs386833882
NM_004646.4(NPHS1):c.1760T>G (p.Leu587Arg) rs386833892
NM_004646.4(NPHS1):c.2014G>A (p.Ala672Thr) rs1352354716
NM_004646.4(NPHS1):c.2020C>A (p.Pro674Thr) rs2146822238
NM_004646.4(NPHS1):c.2506+5G>T rs762704370
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_004646.4(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_004646.4(NPHS1):c.728C>T (p.Pro243Leu) rs919999972
NM_004937.3(CTNS):c.809_811del (p.Ser270del) rs786204632
NM_004998.4(MYO1E):c.1228G>A (p.Glu410Lys) rs2140342702
NM_004998.4(MYO1E):c.1978C>T (p.Gln660Ter) rs2140319931
NM_005245.4(FAT1):c.9259C>G (p.Arg3087Gly) rs375998390
NM_007286.6(SYNPO):c.1808C>T (p.Pro603Leu) rs1464796596
NM_014140.4(SMARCAL1):c.1736C>A (p.Ser579Ter) rs1694331040
NM_014140.4(SMARCAL1):c.1822T>C (p.Phe608Leu) rs2106050388
NM_014140.4(SMARCAL1):c.1940A>C (p.Lys647Thr) rs2106055226
NM_014625.4(NPHS2):c.1059_1060del (p.Ser354fs) rs2125764106
NM_014625.4(NPHS2):c.1120A>T (p.Asn374Tyr) rs2125763683
NM_014625.4(NPHS2):c.1A>T (p.Met1Leu) rs2101887841
NM_014625.4(NPHS2):c.397del (p.Arg133fs) rs1481262338
NM_014625.4(NPHS2):c.419del (p.Gly140fs) rs749779208
NM_014625.4(NPHS2):c.742G>A (p.Ala248Thr) rs2125780619
NM_014625.4(NPHS2):c.910_918del (p.Ser304_Arg306del) rs2125765369
NM_014669.5(NUP93):c.1886A>G (p.Tyr629Cys) rs757674160
NM_016341.4(PLCE1):c.1709del (p.Ser570fs) rs2136320656
NM_016341.4(PLCE1):c.2576_2577insT (p.Gln859fs) rs2137512478
NM_016341.4(PLCE1):c.3379_3380del (p.Ile1126_Asn1127insTer) rs2132855762
NM_016341.4(PLCE1):c.4506+2T>C rs2133127123
NM_016341.4(PLCE1):c.4887del (p.Ala1630fs) rs747229979
NM_016341.4(PLCE1):c.4978_4981del (p.Gln1660fs) rs1589475328
NM_016341.4(PLCE1):c.5521A>G (p.Lys1841Glu) rs2133612592
NM_016341.4(PLCE1):c.5951_5953del (p.Asn1984del) rs2133673643
NM_022489.4(INF2):c.532T>G (p.Phe178Val) rs2140648131
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) rs797044995
NM_032856.5(WDR73):c.940C>T (p.Gln314Ter) rs797044994
NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser) rs104886210
NM_033380.3(COL4A5):c.3722G>A (p.Gly1241Asp) rs281874721

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