ClinVar Miner

Variants in gene NPHS1 with conflicting interpretations

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Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
1409 78 31 83 27 0 23 133

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 56 5 0 0
likely pathogenic 56 31 18 1 0
uncertain significance 5 18 0 25 6
likely benign 0 1 25 0 27
benign 0 0 6 27 0

All variants with conflicting interpretations #

Total variants: 133
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004646.4(NPHS1):c.1175T>C (p.Leu392Pro) rs34320609 0.01801
NM_004646.4(NPHS1):c.1930+12G>A rs528950 0.01172
NM_004646.4(NPHS1):c.1930+10C>T rs76131336 0.01025
NM_004646.4(NPHS1):c.881C>T (p.Thr294Ile) rs113825926 0.00863
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile) rs145125791 0.00598
NM_004646.4(NPHS1):c.1908C>T (p.Ser636=) rs34761059 0.00420
NM_004646.4(NPHS1):c.3598C>T (p.Pro1200Ser) rs35240811 0.00405
NM_004646.4(NPHS1):c.1170+8G>A rs140808195 0.00400
NM_004646.4(NPHS1):c.1926A>G (p.Val642=) rs114728208 0.00397
NM_004646.4(NPHS1):c.1110T>C (p.Val370=) rs116459838 0.00394
NM_004646.4(NPHS1):c.840+6G>A rs369975773 0.00388
NM_004646.4(NPHS1):c.1758-8T>G rs187501631 0.00387
NM_004646.4(NPHS1):c.697A>G (p.Thr233Ala) rs35238405 0.00270
NM_004646.4(NPHS1):c.2072-6C>T rs200253809 0.00191
NM_004646.4(NPHS1):c.3562G>A (p.Ala1188Thr) rs116700257 0.00177
NM_004646.4(NPHS1):c.2398C>T (p.Arg800Cys) rs114896482 0.00151
NM_004646.4(NPHS1):c.1638T>G (p.Thr546=) rs115444936 0.00138
NM_004646.4(NPHS1):c.658T>G (p.Ser220Ala) rs115333628 0.00116
NM_004646.4(NPHS1):c.3482-7A>T rs73928326 0.00107
NM_004646.4(NPHS1):c.597G>A (p.Glu199=) rs61731102 0.00101
NM_004646.4(NPHS1):c.1151T>C (p.Met384Thr) rs114112112 0.00091
NM_004646.4(NPHS1):c.1339G>A (p.Glu447Lys) rs28939695 0.00067
NM_004646.4(NPHS1):c.1747G>A (p.Glu583Lys) rs147641617 0.00059
NM_004646.4(NPHS1):c.803G>A (p.Arg268Gln) rs115308424 0.00052
NM_004646.4(NPHS1):c.1619C>A (p.Ala540Glu) rs149598144 0.00051
NM_004646.4(NPHS1):c.2869G>C (p.Val957Leu) rs114849139 0.00044
NM_004646.4(NPHS1):c.1620G>C (p.Ala540=) rs375861433 0.00042
NM_004646.4(NPHS1):c.1802G>C (p.Gly601Ala) rs114615449 0.00041
NM_004646.4(NPHS1):c.1610C>T (p.Thr537Met) rs368913905 0.00027
NM_004646.4(NPHS1):c.766C>T (p.Arg256Trp) rs386833960 0.00019
NM_004646.4(NPHS1):c.559G>A (p.Val187Met) rs199646884 0.00016
NM_004646.4(NPHS1):c.1104G>A (p.Pro368=) rs143178785 0.00015
NM_004646.4(NPHS1):c.1183G>A (p.Gly395Ser) rs372069596 0.00015
NM_004646.4(NPHS1):c.1486C>A (p.Arg496Ser) rs373264146 0.00011
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter) rs267606919 0.00010
NM_004646.4(NPHS1):c.2335-1G>A rs150038620 0.00009
NM_004646.4(NPHS1):c.3321G>A (p.Glu1107=) rs115670171 0.00009
NM_004646.4(NPHS1):c.3455C>T (p.Thr1152Met) rs143145248 0.00009
NM_004646.4(NPHS1):c.3130G>A (p.Glu1044Lys) rs370387270 0.00008
NM_004646.4(NPHS1):c.1049C>T (p.Ser350Phe) rs570069789 0.00007
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe) rs386833895 0.00007
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys) rs386833909 0.00006
NM_004646.4(NPHS1):c.2491C>T (p.Arg831Cys) rs386833915 0.00005
NM_004646.4(NPHS1):c.1822G>A (p.Val608Ile) rs367976914 0.00004
NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser) rs138656762 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.1647G>C (p.Thr549=) rs371484897 0.00003
NM_004646.4(NPHS1):c.1701C>A (p.Cys567Ter) rs386833887 0.00003
NM_004646.4(NPHS1):c.2728T>C (p.Ser910Pro) rs143649022 0.00003
NM_004646.4(NPHS1):c.1219C>T (p.Arg407Trp) rs386833874 0.00002
NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln) rs386833880 0.00002
NM_004646.4(NPHS1):c.1714A>G (p.Ser572Gly) rs755254230 0.00002
NM_004646.4(NPHS1):c.2417C>A (p.Ala806Asp) rs386833912 0.00002
NM_004646.4(NPHS1):c.2523G>A (p.Glu841=) rs1215088730 0.00002
NM_004646.4(NPHS1):c.2600G>A (p.Gly867Asp) rs753656470 0.00002
NM_004646.4(NPHS1):c.319G>A (p.Ala107Thr) rs386833933 0.00002
NM_004646.4(NPHS1):c.3442C>T (p.Gln1148Ter) rs150855173 0.00002
NM_004646.4(NPHS1):c.574C>T (p.Gln192Ter) rs386833953 0.00002
NM_004646.4(NPHS1):c.928G>A (p.Asp310Asn) rs763972372 0.00002
NM_004646.4(NPHS1):c.1019C>A (p.Pro340His) rs386833861 0.00001
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro) rs386833863 0.00001
NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys) rs386833865 0.00001
NM_004646.4(NPHS1):c.1103C>T (p.Pro368Leu) rs386833867 0.00001
NM_004646.4(NPHS1):c.1170+7C>T rs906888001 0.00001
NM_004646.4(NPHS1):c.1481del (p.Ser494fs) rs386833883 0.00001
NM_004646.4(NPHS1):c.1555C>T (p.Pro519Ser) rs386833884 0.00001
NM_004646.4(NPHS1):c.1715G>A (p.Ser572Asn) rs386833889 0.00001
NM_004646.4(NPHS1):c.1954C>T (p.Gln652Ter) rs386833899 0.00001
NM_004646.4(NPHS1):c.2131C>A (p.Arg711Ser) rs764181464 0.00001
NM_004646.4(NPHS1):c.2464G>A (p.Val822Met) rs267606918 0.00001
NM_004646.4(NPHS1):c.2596C>T (p.Arg866Ter) rs386833920 0.00001
NM_004646.4(NPHS1):c.2815+3A>G rs1223946044 0.00001
NM_004646.4(NPHS1):c.313G>A (p.Asp105Asn) rs386833932 0.00001
NM_004646.4(NPHS1):c.320C>T (p.Ala107Val) rs386833934 0.00001
NM_004646.4(NPHS1):c.532C>T (p.Gln178Ter) rs386833951 0.00001
NM_004646.4(NPHS1):c.534del (p.Thr179fs) rs386833952 0.00001
NM_004646.4(NPHS1):c.728_729del (p.Pro243fs) rs1599845714 0.00001
NM_004646.4(NPHS1):c.808G>T (p.Gly270Cys) rs386833961 0.00001
NM_004646.4(NPHS1):c.895C>T (p.Arg299Cys) rs753476209 0.00001
NM_004646.3(NPHS1):c.1758-8_1785del rs386833891
NM_004646.4(NPHS1):c.1020del (p.Ser341fs) rs1555763372
NM_004646.4(NPHS1):c.1040G>A (p.Gly347Glu) rs386833862
NM_004646.4(NPHS1):c.1096A>C (p.Ser366Arg) rs386833864
NM_004646.4(NPHS1):c.1234G>T (p.Gly412Cys) rs142008044
NM_004646.4(NPHS1):c.1275del (p.Lys426fs) rs386833876
NM_004646.4(NPHS1):c.1307_1308dup (p.Val437fs) rs386833878
NM_004646.4(NPHS1):c.1337T>A (p.Ile446Asn) rs386833879
NM_004646.4(NPHS1):c.1394G>A (p.Cys465Tyr) rs386833881
NM_004646.4(NPHS1):c.1570G>A (p.Ala524Thr)
NM_004646.4(NPHS1):c.1757+1G>A rs1555762591
NM_004646.4(NPHS1):c.1760T>G (p.Leu587Arg) rs386833892
NM_004646.4(NPHS1):c.1913A>G (p.Tyr638Cys)
NM_004646.4(NPHS1):c.2071+2T>C rs386833901
NM_004646.4(NPHS1):c.2072-5C>T rs1973103431
NM_004646.4(NPHS1):c.2072-6C>G rs200253809
NM_004646.4(NPHS1):c.2126T>G (p.Val709Gly) rs386833902
NM_004646.4(NPHS1):c.2156_2163del (p.Leu719fs) rs386833903
NM_004646.4(NPHS1):c.2160dup (p.Cys721fs) rs386833904
NM_004646.4(NPHS1):c.2172_2173del (p.Glu725fs) rs386833906
NM_004646.4(NPHS1):c.2404C>T (p.Arg802Trp) rs386833911
NM_004646.4(NPHS1):c.2515del (p.Gln839fs) rs386833918
NM_004646.4(NPHS1):c.2549_2558del (p.Ala850fs) rs386833919
NM_004646.4(NPHS1):c.2606_2607dup (p.Asn870fs) rs386833921
NM_004646.4(NPHS1):c.2663G>A (p.Arg888Lys) rs778951863
NM_004646.4(NPHS1):c.2746G>T (p.Ala916Ser) rs138173172
NM_004646.4(NPHS1):c.2783C>A (p.Ser928Ter) rs386833926
NM_004646.4(NPHS1):c.2928-3del
NM_004646.4(NPHS1):c.3061dup (p.Asp1021fs) rs34124941
NM_004646.4(NPHS1):c.3250del (p.Val1084fs) rs386833935
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_004646.4(NPHS1):c.3286+5G>A rs1555759089
NM_004646.4(NPHS1):c.3418C>A (p.Arg1140Ser) rs143092783
NM_004646.4(NPHS1):c.3418C>T (p.Arg1140Cys) rs143092783
NM_004646.4(NPHS1):c.3456G>T (p.Thr1152=) rs138092189
NM_004646.4(NPHS1):c.3555_3574del (p.Ser1186fs) rs767832658
NM_004646.4(NPHS1):c.3595-2A>G rs386833940
NM_004646.4(NPHS1):c.3622_3625del (p.Asp1208fs) rs1186290245
NM_004646.4(NPHS1):c.398-1G>A rs386833942
NM_004646.4(NPHS1):c.468C>G (p.Tyr156Ter) rs386833943
NM_004646.4(NPHS1):c.479G>C (p.Cys160Ser) rs386833944
NM_004646.4(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_004646.4(NPHS1):c.565G>T (p.Glu189Ter) rs139598219
NM_004646.4(NPHS1):c.609-2A>C rs386833955
NM_004646.4(NPHS1):c.614_621delinsTT (p.Thr205_Arg207delinsIle) rs1555763603
NM_004646.4(NPHS1):c.619del (p.Arg207fs) rs778217926
NM_004646.4(NPHS1):c.621del (p.Ser208fs) rs2146828521
NM_004646.4(NPHS1):c.710T>C (p.Leu237Pro) rs373835033
NM_004646.4(NPHS1):c.736G>T (p.Glu246Ter) rs386833959
NM_004646.4(NPHS1):c.791C>A (p.Pro264Gln) rs34982899
NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg) rs34982899
NM_004646.4(NPHS1):c.796G>A (p.Val266Met)
NM_004646.4(NPHS1):c.866G>A (p.Trp289Ter) rs781584590

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