ClinVar Miner

List of variants in gene NPHS1 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 104
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004646.4(NPHS1):c.697A>G (p.Thr233Ala) rs35238405 0.00270
NM_004646.4(NPHS1):c.3562G>A (p.Ala1188Thr) rs116700257 0.00177
NM_004646.4(NPHS1):c.658T>G (p.Ser220Ala) rs115333628 0.00116
NM_004646.4(NPHS1):c.1151T>C (p.Met384Thr) rs114112112 0.00091
NM_004646.4(NPHS1):c.1747G>A (p.Glu583Lys) rs147641617 0.00059
NM_004646.4(NPHS1):c.1619C>A (p.Ala540Glu) rs149598144 0.00051
NM_004646.4(NPHS1):c.1620G>C (p.Ala540=) rs375861433 0.00042
NM_004646.4(NPHS1):c.766C>T (p.Arg256Trp) rs386833960 0.00019
NM_004646.4(NPHS1):c.427G>C (p.Glu143Gln) rs540253444 0.00016
NM_004646.4(NPHS1):c.1183G>A (p.Gly395Ser) rs372069596 0.00015
NM_004646.4(NPHS1):c.2591G>A (p.Arg864His) rs143986233 0.00013
NM_004646.4(NPHS1):c.710T>A (p.Leu237Gln) rs373835033 0.00011
NM_004646.4(NPHS1):c.2335-1G>A rs150038620 0.00009
NM_004646.4(NPHS1):c.3455C>T (p.Thr1152Met) rs143145248 0.00009
NM_004646.4(NPHS1):c.2916G>T (p.Arg972Ser) rs374762054 0.00006
NM_004646.4(NPHS1):c.973G>T (p.Ala325Ser) rs376401690 0.00005
NM_004646.4(NPHS1):c.1309G>A (p.Val437Ile) rs751182197 0.00004
NM_004646.4(NPHS1):c.2533C>A (p.Pro845Thr) rs375108899 0.00004
NM_004646.4(NPHS1):c.2590C>T (p.Arg864Cys) rs752712664 0.00004
NM_004646.4(NPHS1):c.2996C>T (p.Thr999Met) rs767424724 0.00004
NM_004646.4(NPHS1):c.3165A>T (p.Ser1055=) rs201738778 0.00004
NM_004646.4(NPHS1):c.609-10C>T rs763508503 0.00004
NM_004646.4(NPHS1):c.2305C>T (p.Leu769Phe) rs747892169 0.00002
NM_004646.4(NPHS1):c.1555C>T (p.Pro519Ser) rs386833884 0.00001
NM_004646.4(NPHS1):c.1727T>C (p.Val576Ala) rs757670920 0.00001
NM_004646.4(NPHS1):c.1850A>G (p.His617Arg) rs764058957 0.00001
NM_004646.4(NPHS1):c.2054G>A (p.Gly685Asp) rs1161340572 0.00001
NM_004646.4(NPHS1):c.2669C>T (p.Thr890Met) rs773622352 0.00001
NM_004646.4(NPHS1):c.2695G>A (p.Val899Ile) rs1174084046 0.00001
NM_004646.4(NPHS1):c.3160C>T (p.Pro1054Ser) rs772424085 0.00001
NM_004646.4(NPHS1):c.610G>A (p.Val204Met) rs773027675 0.00001
NM_004646.4(NPHS1):c.625T>A (p.Ser209Thr) rs749219077 0.00001
NM_004646.4(NPHS1):c.938C>T (p.Ala313Val) rs755752316 0.00001
NC_000019.9:g.(?_36317416)_(36317567_?)dup
NM_004646.4(NPHS1):c.1022G>C (p.Ser341Thr) rs976105039
NM_004646.4(NPHS1):c.1040G>A (p.Gly347Glu) rs386833862
NM_004646.4(NPHS1):c.1189A>C (p.Ile397Leu) rs1973175925
NM_004646.4(NPHS1):c.1337T>A (p.Ile446Asn) rs386833879
NM_004646.4(NPHS1):c.1370C>T (p.Ala457Val)
NM_004646.4(NPHS1):c.1469_1486dup (p.Leu490_Arg495dup) rs1973137901
NM_004646.4(NPHS1):c.1504G>A (p.Val502Met)
NM_004646.4(NPHS1):c.1576T>C (p.Phe526Leu)
NM_004646.4(NPHS1):c.1606T>C (p.Ser536Pro) rs1555762694
NM_004646.4(NPHS1):c.1790C>T (p.Ala597Val) rs548304892
NM_004646.4(NPHS1):c.1873G>T (p.Ala625Ser) rs1973122430
NM_004646.4(NPHS1):c.2020C>A (p.Pro674Thr) rs2146822238
NM_004646.4(NPHS1):c.2024C>T (p.Ala675Val)
NM_004646.4(NPHS1):c.2053G>T (p.Gly685Cys)
NM_004646.4(NPHS1):c.2072-5C>T rs1973103431
NM_004646.4(NPHS1):c.2150A>G (p.Tyr717Cys)
NM_004646.4(NPHS1):c.2159A>C (p.His720Pro) rs760911714
NM_004646.4(NPHS1):c.2201T>G (p.Leu734Arg) rs781209508
NM_004646.4(NPHS1):c.2210A>C (p.His737Pro)
NM_004646.4(NPHS1):c.2257G>A (p.Val753Ile) rs753894951
NM_004646.4(NPHS1):c.2335-11T>A rs142316130
NM_004646.4(NPHS1):c.2336G>T (p.Gly779Val) rs2146819926
NM_004646.4(NPHS1):c.2346GGA[1] (p.Glu783del) rs1568453391
NM_004646.4(NPHS1):c.2437G>A (p.Ala813Thr)
NM_004646.4(NPHS1):c.2446T>C (p.Cys816Arg) rs1568453333
NM_004646.4(NPHS1):c.2452G>A (p.Val818Met)
NM_004646.4(NPHS1):c.2497G>T (p.Val833Phe)
NM_004646.4(NPHS1):c.2506+5G>T rs762704370
NM_004646.4(NPHS1):c.2525A>C (p.His842Pro) rs1599841693
NM_004646.4(NPHS1):c.2543A>C (p.Lys848Thr)
NM_004646.4(NPHS1):c.2588G>T (p.Cys863Phe) rs1568453194
NM_004646.4(NPHS1):c.2635G>A (p.Gly879Arg)
NM_004646.4(NPHS1):c.2651T>C (p.Leu884Pro)
NM_004646.4(NPHS1):c.2679A>G (p.Thr893=) rs1568453068
NM_004646.4(NPHS1):c.2746G>A (p.Ala916Thr)
NM_004646.4(NPHS1):c.2758T>A (p.Cys920Ser) rs1568453007
NM_004646.4(NPHS1):c.2810G>A (p.Ser937Asn)
NM_004646.4(NPHS1):c.2819G>A (p.Arg940His)
NM_004646.4(NPHS1):c.2899G>T (p.Gly967Trp) rs1973023933
NM_004646.4(NPHS1):c.295G>A (p.Glu99Lys)
NM_004646.4(NPHS1):c.3024A>G (p.Arg1008=) rs1131691606
NM_004646.4(NPHS1):c.3025T>C (p.Tyr1009His)
NM_004646.4(NPHS1):c.3214C>A (p.Leu1072Ile) rs1972887955
NM_004646.4(NPHS1):c.3238T>G (p.Cys1080Gly)
NM_004646.4(NPHS1):c.3244G>A (p.Gly1082Arg)
NM_004646.4(NPHS1):c.3245G>T (p.Gly1082Val) rs1440052631
NM_004646.4(NPHS1):c.3418C>T (p.Arg1140Cys) rs143092783
NM_004646.4(NPHS1):c.3439C>A (p.Pro1147Thr)
NM_004646.4(NPHS1):c.3456G>T (p.Thr1152=) rs138092189
NM_004646.4(NPHS1):c.3464A>G (p.Glu1155Gly)
NM_004646.4(NPHS1):c.3544A>G (p.Thr1182Ala) rs537783084
NM_004646.4(NPHS1):c.3544_3545dup (p.Tyr1183fs)
NM_004646.4(NPHS1):c.3643G>A (p.Gly1215Arg) rs901965982
NM_004646.4(NPHS1):c.3679C>G (p.Leu1227Val)
NM_004646.4(NPHS1):c.404C>A (p.Pro135His) rs2146831313
NM_004646.4(NPHS1):c.422C>A (p.Thr141Asn)
NM_004646.4(NPHS1):c.444_452del (p.Thr149_Val151del) rs1568457279
NM_004646.4(NPHS1):c.451G>A (p.Val151Ile)
NM_004646.4(NPHS1):c.460del (p.Gln154fs) rs1568457270
NM_004646.4(NPHS1):c.528T>G (p.Ser176Arg)
NM_004646.4(NPHS1):c.545A>C (p.Asp182Ala) rs2146830080
NM_004646.4(NPHS1):c.620G>A (p.Arg207Gln)
NM_004646.4(NPHS1):c.644T>A (p.Leu215Gln) rs755962215
NM_004646.4(NPHS1):c.665C>T (p.Pro222Leu)
NM_004646.4(NPHS1):c.673G>C (p.Glu225Gln)
NM_004646.4(NPHS1):c.710T>C (p.Leu237Pro) rs373835033
NM_004646.4(NPHS1):c.767G>A (p.Arg256Gln)
NM_004646.4(NPHS1):c.791C>A (p.Pro264Gln) rs34982899
NM_004646.4(NPHS1):c.791C>T (p.Pro264Leu)
NM_004646.4(NPHS1):c.808G>C (p.Gly270Arg)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.